BRCA1 Protein
The phosphoprotein encoded by the BRCA1 gene (GENE, BRCA1). In normal cells the BRCA1 protein is localized in the nucleus, whereas in the majority of breast cancer cell lines and in malignant pleural effusions from breast cancer patients, it is localized mainly in the cytoplasm. (Science 1995;270(5237):713,789-91)
Genes, BRCA1
BRCA2 Protein
A large, nuclear protein, encoded by the BRCA2 gene (GENE, BRCA2). Mutations in this gene predispose humans to breast and ovarian cancer. The BRCA2 protein is an essential component of DNA repair pathways, suppressing the formation of gross chromosomal rearrangements. (from Genes Dev. 2000;14(11):1400-6)
Genes, BRCA2
A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human chromosome 13 at locus 13q12.3. Mutations in this gene predispose humans to breast and ovarian cancer. It encodes a large, nuclear protein that is an essential component of DNA repair pathways, suppressing the formation of gross chromosomal rearrangements. (from Genes Dev 2000;14(11):1400-6)
Germ-Line Mutation
Ovarian Neoplasms
Mutation
Genetic Testing
Heterozygote
Rad51 Recombinase
Genetic Predisposition to Disease
Founder Effect
A phenomenon that is observed when a small subgroup of a larger POPULATION establishes itself as a separate and isolated entity. The subgroup's GENE POOL carries only a fraction of the genetic diversity of the parental population resulting in an increased frequency of certain diseases in the subgroup, especially those diseases known to be autosomal recessive.
Breast Neoplasms, Male
Neoplastic Syndromes, Hereditary
The condition of a pattern of malignancies within a family, but not every individual's necessarily having the same neoplasm. Characteristically the tumor tends to occur at an earlier than average age, individuals may have more than one primary tumor, the tumors may be multicentric, usually more than 25 percent of the individuals in direct lineal descent from the proband are affected, and the cancer predisposition in these families behaves as an autosomal dominant trait with about 60 percent penetrance.
Neoplasm Proteins
Proteins whose abnormal expression (gain or loss) are associated with the development, growth, or progression of NEOPLASMS. Some neoplasm proteins are tumor antigens (ANTIGENS, NEOPLASM), i.e. they induce an immune reaction to their tumor. Many neoplasm proteins have been characterized and are used as tumor markers (BIOMARKERS, TUMOR) when they are detectable in cells and body fluids as monitors for the presence or growth of tumors. Abnormal expression of ONCOGENE PROTEINS is involved in neoplastic transformation, whereas the loss of expression of TUMOR SUPPRESSOR PROTEINS is involved with the loss of growth control and progression of the neoplasm.
DNA Repair
The reconstruction of a continuous two-stranded DNA molecule without mismatch from a molecule which contained damaged regions. The major repair mechanisms are excision repair, in which defective regions in one strand are excised and resynthesized using the complementary base pairing information in the intact strand; photoreactivation repair, in which the lethal and mutagenic effects of ultraviolet light are eliminated; and post-replication repair, in which the primary lesions are not repaired, but the gaps in one daughter duplex are filled in by incorporation of portions of the other (undamaged) daughter duplex. Excision repair and post-replication repair are sometimes referred to as "dark repair" because they do not require light.
Genetic Counseling
An educational process that provides information and advice to individuals or families about a genetic condition that may affect them. The purpose is to help individuals make informed decisions about marriage, reproduction, and other health management issues based on information about the genetic disease, the available diagnostic tests, and management programs. Psychosocial support is usually offered.
DNA Damage
Injuries to DNA that introduce deviations from its normal, intact structure and which may, if left unrepaired, result in a MUTATION or a block of DNA REPLICATION. These deviations may be caused by physical or chemical agents and occur by natural or unnatural, introduced circumstances. They include the introduction of illegitimate bases during replication or by deamination or other modification of bases; the loss of a base from the DNA backbone leaving an abasic site; single-strand breaks; double strand breaks; and intrastrand (PYRIMIDINE DIMERS) or interstrand crosslinking. Damage can often be repaired (DNA REPAIR). If the damage is extensive, it can induce APOPTOSIS.
Transcription Factors
Tumor Suppressor Proteins
Pedigree
Ubiquitin-Protein Ligases
A diverse class of enzymes that interact with UBIQUITIN-CONJUGATING ENZYMES and ubiquitination-specific protein substrates. Each member of this enzyme group has its own distinct specificity for a substrate and ubiquitin-conjugating enzyme. Ubiquitin-protein ligases exist as both monomeric proteins multiprotein complexes.
Fallopian Tube Neoplasms
Genomic Instability
Family Health
Gene Expression Regulation, Neoplastic
Replication Protein A
Receptor, Cannabinoid, CB1
Chromosomes, Artificial, Bacterial
Meiosis
Molecular Sequence Data
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
Survival in familial, BRCA1-associated, and BRCA2-associated epithelial ovarian cancer. United Kingdom Coordinating Committee for Cancer Research (UKCCCR) Familial Ovarian Cancer Study Group. (1/929)
The natural history of hereditary and BRCA1- and BRCA2-associated epithelial ovarian cancer may differ from that of sporadic disease. The purpose of this study was to compare the clinical characteristics of BRCA1- and BRCA2-associated hereditary ovarian cancer, hereditary ovarian cancer with no identified BRCA1/2 mutation, and ovarian cancer in population-based controls. BRCA1 and BRCA2 mutation testing was carried out on index cases from 119 families with site-specific epithelial ovarian cancer or breast-ovarian cancer. We estimated overall survival in 151 patients from 57 BRCA1 and BRCA2 mutation families and compared it with that in 119 patients from 62 families in which a BRCA1/2 mutation was not identified. We compared clinical outcome and data on tumor histopathology, grade, and stage. We also compared survival in familial epithelial ovarian cancer, whether or not a mutation was identified, with that of an age-matched set of population control cases. Overall survival at 5 years was 21% (95% confidence interval, 14-28) in cases from BRCA1 mutation families, 25% (8-42) in BRCA2 mutation families, and 19% (12-26) in families with no identified mutation (P = 0.91). Survival in familial ovarian cancer cases as a whole was significantly worse than for population controls (P = 0.005). In the familial cases, we found no differences in histopathological type, grade, or stage according to mutation status. Compared to population control cases, mucinous tumors occurred less frequently in the familial cases (2 versus 12%, P<0.001), and a greater proportion of the familial cases presented with advanced disease (83% stage III/IV versus 56%; P = 0.001). We have shown that survival in familial ovarian cancer cases is worse than that in sporadic cases, whether or not a BRCA1/2 mutation was identified, perhaps reflecting a difference in biology analogous to that observed in breast cancer. (+info)Exclusion of a major role for the PTEN tumour-suppressor gene in breast carcinomas. (2/929)
PTEN is a novel tumour-suppressor gene located on chromosomal band 10q23.3. This region displays frequent loss of heterozygosity (LOH) in a variety of human neoplasms including breast carcinomas. The detection of PTEN mutations in Cowden disease and in breast carcinoma cell lines suggests that PTEN may be involved in mammary carcinogenesis. We here report a mutational analysis of tumour specimens from 103 primary breast carcinomas and constitutive DNA from 25 breast cancer families. The entire coding region of PTEN was screened by single-strand conformation polymorphism (SSCP) analysis and direct sequencing using intron-based primers. No germline mutations could be identified in the breast cancer families and only one sporadic carcinoma carried a PTEN mutation at one allele. In addition, all sporadic tumours were analysed for homozygous deletions by differential polymerase chain reaction (PCR) and for allelic loss using the microsatellite markers D10S215, D10S564 and D10S573. No homozygous deletions were detected and only 10 out of 94 informative tumours showed allelic loss in the PTEN region. These results suggest that PTEN does not play a major role in breast cancer formation. (+info)High frequency of germ-line BRCA2 mutations among Hungarian male breast cancer patients without family history. (3/929)
To determine the contribution of BRCA1 and BRCA2 mutations to the pathogenesis of male breast cancer in Hungary, the country with the highest male breast cancer mortality rates in continental Europe, a series of 18 male breast cancer patients and three patients with gynecomastia was analyzed for germ-line mutations in both BRCA1 and BRCA2. Although no germ-line BRCA1 mutation was observed, 6 of the 18 male breast cancer cases (33%) carried truncating mutations in the BRCA2 gene. Unexpectedly, none of them reported a family history for breast/ovarian cancer. Four of six truncating mutations were novel, and two mutations were recurrent. Four patients (22%) had a family history of breast/ovarian cancer in at least one first- or second-degree relative; however, no BRCA2 mutation was identified among them. No mutation was identified in either of the genes in the gynecomastias. These results provide evidence for a strong genetic component of male breast cancer in Hungary. (+info)Benefits and costs of screening Ashkenazi Jewish women for BRCA1 and BRCA2. (4/929)
PURPOSE: To determine the survival benefit and cost-effectiveness of screening Ashkenazi Jewish women for three specific BRCA1/2 gene mutations. METHODS: We used a Markov model and Monte Carlo analysis to estimate the survival benefit and cost-effectiveness of screening for three specific mutations in a population in which their prevalence is 2.5% and the associated cancer risks are 56% for breast cancer and 16% for ovarian cancer. We assumed that the sensitivity and specificity of the test were 98% and 99%, respectively, that bilateral prophylactic oophorectomy would reduce ovarian cancer risk by 45%, and that bilateral prophylactic mastectomy would reduce breast cancer risk by 90%. We used Medicare payment data for treatment costs and Surveillance, Epidemiology, and End Results data for cancer survival. RESULTS: Our model suggests that genetic screening of this population could prolong average nondiscounted survival by 38 days (95% probability interval, 22 to 57 days) for combined surgery, 33 days (95% probability interval, 18 to 43 days) for mastectomy, 11 days (95% probability interval, 4 to 25 days) for oophorectomy, and 6 days (95% probability interval, 3 to 8 days) for surveillance. The respective cost-effectiveness ratios per life-year saved, with a discount rate of 3%, are $20,717, $29,970, $72,780, and $134,273. CONCLUSION: In this Ashkenazi Jewish population, with a high prevalence of BRCA1/2 mutations, genetic screening may significantly increase average survival and, depending on costs and screening/treatment strategies, may be cost-effective by the standards of accepted cancer screening tests. According to our model, screening is cost-effective only if all women who test positive undergo prophylactic surgery. These estimates require confirmation through prospective observational studies and clinical trials. (+info)The prevalence of common BRCA1 and BRCA2 mutations among Ashkenazi Jews. (5/929)
Three founder mutations in the cancer-associated genes BRCA1 and BRCA2 occur frequently enough among Ashkenazi Jews to warrant consideration of genetic testing outside the setting of high-risk families with multiple cases of breast or ovarian cancer. We estimated the prevalence of these founder mutations in BRCA1 and BRCA2 in the general population of Ashkenazi Jews according to age at testing, personal cancer history, and family cancer history. We compared the results of anonymous genetic testing of blood samples obtained in a survey of >5,000 Jewish participants from the Washington, DC, area with personal and family cancer histories obtained from questionnaires completed by the participants. In all subgroups defined by age and cancer history, fewer mutations were found in this community sample than in clinical series studied to date. For example, 11 (10%) of 109 Jewish women who had been given a diagnosis of breast cancer in their forties carried one of the mutations. The most important predictor of mutation status was a previous diagnosis of breast or ovarian cancer. In men and in women never given a diagnosis of cancer, family history of breast cancer before age 50 years was the strongest predictor. As interest in genetic testing for BRCA1 and BRCA2 in the Jewish community broadens, community-based estimates such as these help guide those seeking and those offering such testing. Even with accurate estimates of the likelihood of carrying a mutation and the likelihood of developing cancer if a mutation is detected, the most vexing clinical problems remain. (+info)Commercialization of BRCA1/2 testing: practitioner awareness and use of a new genetic test. (6/929)
It was our purpose to determine the characteristics of practitioners in the United States who were among the first to inquire about and use the BRCA1 and BRCA2 (BRCA1/2) genetic tests outside of a research protocol. Questionnaires were mailed to all practitioners who requested information on or ordered a BRCA1/2 test from the University of Pennsylvania (UPenn) Genetic Diagnostics Laboratory (GDL) between October 1, 1995 and January 1, 1997 (the first 15 months the test was available for clinical use). The response rate was 67% of practitioners; 54% (121/225) were genetic counselors, 39% (87/225) were physicians or lab directors. Most physicians were oncologists, pathologists, or obstetrician/gynecologists, but 20% practiced surgery or internal or general medicine. Fifty-six percent (125/225) had ordered a BRCA1/2 test for a patient; most of the rest had offered or were willing to offer testing. Of those who had offered testing, 70% had a patient decline BRCA1/2 testing when offered. Practitioners perceived that patients' fear of loss of confidentiality was a major reason for declining. Nearly 60% of practitioners reported that their patients had access to a genetic counselor, but 28% of physicians who ordered a BRCA1/2 test reported having no such access, despite the GDL's counseling requirement. The proportion of physicians reporting no access to genetic counselors for their patients increased from 22.4% in the first half of the study to 50% in the last half. Many practitioners have an interest in BRCA1/2 testing, despite policy statements that discourage its use outside of research protocols. Practitioner responses suggest that patient interest in testing seems to be tempered by knowledge of potential risks. An apparent increase in patient concern about confidentiality and inability to pay for testing could indicate growing barriers to testing. Although most practitioners reported having access to counseling facilities, perceived lack of such access among an increasing proportion of practitioners indicates that lab requirements for counseling are difficult to enforce and suggests that an increasing proportion of patients may not be getting access to counseling. (+info)Prevalence of BRCA1 and BRCA2 Jewish mutations in Spanish breast cancer patients. (7/929)
We screened the 185delAG and 5382insC (BRCA1) and the 6174delT (BRCA2) mutation in 298 Spanish women with breast cancer. Two women (one with Sephardic ancestors) presented the 185delAG mutation and the same haplotype reported in Ashkenazim with this mutation. This suggests a common origin of the 185delAG in both Sephardic and Ashkenazi populations. (+info)Characteristics of small breast and/or ovarian cancer families with germline mutations in BRCA1 and BRCA2. (8/929)
For families with a small number of cases of breast and/or ovarian cancer, limited data are available to predict the likelihood of genetic predisposition due to mutations in BRCA1 or BRCA2. In 104 families with three or more affected individuals (average 3.8) seeking counselling at family cancer clinics, mutation analysis was performed in the open reading frame of BRCA1 and BRCA2 by the protein truncation test and mutation-specific assays. In 31 of the 104 families tested, mutations were detected (30%). The majority of these mutations (25) occurred in BRCA1. Mutations were detected in 15 out of 25 families (60%) with both breast and ovarian cancer and in 16 out of 79 families (20%) with exclusively cases of breast cancer. Thus, an ovarian cancer case strongly predicted finding a mutation (P < 0.001). Within the group of small breast-cancer-only families, a bilateral breast cancer case or a unilateral breast cancer case diagnosed before age 40 independently predicted finding a BRCA1 or BRCA2 mutation (P = 0.005 and P = 0.02, respectively). Therefore, even small breast/ovarian cancer families with at least one case of ovarian cancer, bilateral breast cancer, or a case of breast cancer diagnosed before age 40, should be referred for mutation screening. (+info)
Women with hereditary breast cancer predispositions should avoid using their smartphones, tablets and laptops at night | Smart...
Susan G. Komen San Diego | BRCA Research Saves Lives
Survival in prospectively ascertained familial breast cancer: Analysis of a series stratified by tumour characteristics, BRCA...
Six new genes are linked to inherited breast cancer - Harvard Gazette
Active Projects
Human Breast cancer susceptibility protein 1 (BRCA1) ELISA Kit
Breast Cancer Susceptibility Genes
Functional Analysis of Breast Cancer Susceptibility Genes in Mice - Shyam Sharan
Analysis of BRCA2 point mutations and exon deletions/amplifications in breast and breast/ovarian cancer families<...
Tak Wah Mak | Medical Biophysics, University of Toronto
Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women: Updated Evidence Report and...
US OKs 1st drug aimed at women with inherited breast cancer
Cancer Biomarkers - Volume 15, issue 6 - Journals - IOS Press
Four new genes added to the inherited breast cancer risk list - Immunotherapy China
ICARE Newsletter Winter 2016Community Spotlight - Inherited Cancer Registry (ICARE)
Popular Polyclonal Antibodies | GoldBio
Transposon insertional mutagenesis in mice identifies human breast cancer susceptibility genes and signatures for...
EMSY抗体[Y474]| Abcam中国
Posttranscriptional regulation of the breast cancer susceptibility gene BRCA1 by the RNA binding protein HuR - UQ eSpace
Trypanosoma brucei BRCA2 acts in a life cycle-specific genome stability process and dictates BRC repeat number-dependent RAD51...
A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families<...
The Role of BRCT-Containing Proteins BRCA1 and PAXIP1 in Cancer by Ankita Jhuraney
Biological processes, properties and molecular wiring diagrams of candidate low-penetrance breast cancer susceptibility genes |...
Tunable Microchip Sorting of BRCA1 Nuclear Assemblies - Deborah Kelly
OpenEmory | Search Results
OpenEmory | Search Results
DNA Testing Centres of Canada » BRCA1/2 and Hereditary Cancer
A role of BRCA1 and BRCA2 germline mutations in breast cancer susceptibility within Sardinian population | BMC Cancer | Full...
Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers. - Nuffield...
DSpace at EWHA: The effect of reproductive factors on breast cancer presentation in women who are BRCA mutation carrier
Hereditary breast cancer: Part II. Management of hereditary breast cancer: Implications of molecular genetics and pathology<...
BRCA1 Promoter Region Hypermethylation in Ovarian Carcinoma: A Population-based Study | Cancer Research
Genetic Counseling Using BRCA1-Linked Markers.
Inhibition of BRCT(BRCA1)-phosphoprotein interaction enhances the cytotoxic effect of olaparib in breast cancer cells: A proof...
Comprehensive Analysis of BRCA1, BRCA2 and TP53 Germline Mutation and Tumor Characterization: A Portrait of Early-Onset Breast...
Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. - Clinical Trial Service Unit &...
New BRCA1 and BRCA2 Test May Be More Accurate, Less Expensive
Benefits and costs of screening Ashkenazi Jewish women for BRCA1 and BRCA2<...
Assessing Associations between the AURKA-HMMR-TPX2-TUBG1 Functional Module and Breast Cancer Risk in BRCA1/2 Mutation Carriers
Triple-negative breast cancer and PTEN (phosphatase and tensin homologue)loss are predictors of BRCA1 germline mutations in...
DNA repair-related functional assays for the classification of BRCA1 and BRCA2 variants: a critical review and needs assessment...
Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2...
Womens Care Consultants - Breast Cancer (BRCA) Gene Test
BRCA2 mutation increases mortality rate in prostate cancer | Feature | Pulse Today
BRCA1 and BRCA2 - SNPedia
p53 mediates repression of the BRCA2 promoter and down-regulation of BRCA2 mRNA and protein levels in response to DNA damage<...
A targeted analysis identifies a high frequency of BRCA1 and BRCA2 mutation carriers in women with ovarian cancer from a...
Telomere length shows no association with BRCA1 and BRCA2 mutation status - Danish National Research Database-Den Danske...
Genetic testing in an ethnically diverse cohort of high-risk women: A comparative analysis of BRCA1 and BRCA2 mutations in...
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations | Garvan Institute of Medical Research
Nonequivalent Gene Expression and Copy Number Alterations in High-Grade Serous Ovarian Cancers with BRCA1 and BRCA2 Mutations |...
hCds1 phosphorylates BRCA1 after DNA damage | Breast Cancer Research | Full Text
Interactions between human BRCA2 protein and the meiosis‐specific recombinase DMC1 | The EMBO Journal
The BRCA2 gene product functionally interacts with p53 and RAD51 | PNAS
Screening for PALB2 mutations in South African women with BRCA negative familial breast cancer
DNA repair-related functional assays for the classification of BRCA1 and BRCA2 variants: a critical review and needs assessment...
Cancers | Free Full-Text | BRCA1 and Oxidative Stress | HTML
Cancers | Free Full-Text | BRCA1 and Oxidative Stress
Does tumorigenesis select for or against mutations of the DNA repair-associated genes BRCA2 and MRE11?: Considerations from...
Association of BRCA1 with the hRad50-hMre11-p95 Complex and the DNA Damage Response | Science
Cancer and The BRCA1 and BRCA2 Gene - The Fight For Our Bodies
Efficacy versus effectiveness of clinical genetic testing criteria for BRCA1 and BRCA2 hereditary mutations in incident breast...
BRCA1 mutations in primary breast and ovarian carcinomas
BRCA1 185delAG mutant protein, BRAt, amplifies caspase-mediated apopto by Joshua D. ODonnell
Impairment of BRCA1-Related DNA Double-Strand Break Repair Leads to Ovarian Aging in Mice and Humans | Science Translational...
BRCA1 as Target for Breast Cancer Prevention and Therapy | Bentham Science
Pancreatic Cancer and BRCA Gene | Columbia University Department of Surgery
Secondary BRCA1 Mutations in BRCA1-Mutated Ovarian Carcinomas with Platinum Resistance | Cancer Research
Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer.
A BRCA2 mutation incorrectly mapped in the original BRCA2 reference sequence, is a common West Danish founder mutation...
Journal of Biosciences | Indian Academy of Sciences
Increasing BRCA testing rates in young women with breast cancer. ecancer - News
BCCIP
BRCA2 and CDKN1A-interacting protein is a protein that in humans is encoded by the BCCIP gene. This gene product was isolated ... 2005). "The BRCA2-interacting protein BCCIP functions in RAD51 and BRCA2 focus formation and homologous recombinational repair ... "Entrez Gene: BCCIP BRCA2 and CDKN1A interacting protein". Phillips-Mason PJ, Mourton T, Major DL, Brady-Kalnay SM (2008). " ... Functional studies indicate that this protein may be an important cofactor for BRCA2 in tumor suppression, and a modulator of ...
RAD51
This protein can interact with the ssDNA-binding protein RPA, BRCA2, PALB2 and RAD52. The structural basis for Rad51 filament ... "Analysis of murine Brca2 reveals conservation of protein-protein interactions but differences in nuclear localization signals ... This protein is also found to interact with PALB2 and BRCA2, which may be important for the cellular response to DNA damage. ... BRCA2 is shown to regulate both the intracellular localization and DNA-binding ability of this protein. Loss of these controls ...
Michael Stratton
... which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene". Nature Genetics. 39 (2): 165-7. doi:10.1038 ... "The BRC repeats are conserved in mammalian BRCA2 proteins". Human Molecular Genetics. 6 (1): 53-8. doi:10.1093/hmg/6.1.53. PMID ... In 1994, he assembled a research group that localised BRCA2, a major breast cancer susceptibility gene that repairs chromosomal ... Using genetic linkage studies and positional cloning, he mapped and isolated the breast cancer susceptibility gene BRCA2 and ...
Institute of Cancer Research
"The BRC repeats are conserved in mammalian BRCA2 proteins". Human Molecular Genetics. 6 (1): 53-8. doi:10.1093/hmg/6.1.53. PMID ... "BRCA2 mutations in primary breast and ovarian cancers". Nature Genetics. 13 (2): 238-40. doi:10.1038/ng0696-238. PMID 8640235. ... In 1994 an ICR team led by Michael Stratton discovered the gene BRCA2, which has been linked to breast cancer, prostate cancer ... BRCA2, to chromosome 13q12-13". Science. 265 (5181): 2088-2090. doi:10.1126/science.8091231. PMID 8091231. Roth, S; Kristo, P; ...
BRCA1
The BRCA2 protein, which has a function similar to that of BRCA1, also interacts with the RAD51 protein. By influencing DNA ... "Analysis of murine Brca2 reveals conservation of protein-protein interactions but differences in nuclear localization signals ... BRCA1 and BRCA2 are unrelated proteins, but both are normally expressed in the cells of breast and other tissue, where they ... BRCA1 and BRCA2 have been described as "breast cancer susceptibility genes" and "breast cancer susceptibility proteins". The ...
Alan Ashworth
"The BRC repeats are conserved in mammalian BRCA2 proteins". Human Molecular Genetics. 6 (1): 53-8. doi:10.1093/hmg/6.1.53. PMID ... He was a key part of the team that in 1995 discovered the BRCA2 gene, which is linked to an increased risk of some types of ... Ten years later, Ashworth identified a way to exploit genetic weaknesses in cancer cells including mutated BRCA 1 or BRCA2, ... "BRCA2 mutations in primary breast and ovarian cancers". Nature Genetics. 13 (2): 238-40. doi:10.1038/ng0696-238. PMID 8640235. ...
DMC1 (gene)
Thorslund T, Esashi F, West SC (2007). "Interactions between human BRCA2 protein and the meiosis-specific recombinase DMC1". ... The protein has also been shown to bind Tid1(Rdh54), Mei5/Sae3, and Hop2/Mnd1. All of these interacting proteins act to enhance ... Meiotic recombination protein Dmc1 is a homolog of the bacterial strand exchange protein RecA. Dmc1 plays the central role in ... Meiotic recombination protein DMC1/LIM15 homolog is a protein that in humans is encoded by the DMC1 gene. ...
FANCG
"Direct interaction of the Fanconi anaemia protein FANCG with BRCA2/FANCD1". Hum. Mol. Genet. 12 (19): 2503-10. doi:10.1093/hmg/ ... Fanconi anemia group G protein is a protein that in humans is encoded by the FANCG gene. FANCG, involved in Fanconi anemia, ... Activated FANCD2 protein co-localizes with BRCA1 (breast cancer susceptibility protein) at ionizing radiation-induced foci and ... Gordon SM, Buchwald M (July 2003). "Fanconi anemia protein complex: mapping protein interactions in the yeast 2- and 3-hybrid ...
PCID2
... a cell division checkpoint protein. This protein also interacts with and stabilizes Brca2 (breast cancer 2) protein. ... PCI domain containing 2 is a protein that in humans is encoded by the PCID2 gene. This gene encodes a component of the TREX-2 ... This protein regulates expression of Mad2 mitotic arrest deficient-like 1, ...
PALB2
This protein binds to and colocalizes with the breast cancer 2 early onset protein (BRCA2) in nuclear foci and likely permits ... Partner and localizer of BRCA2, also known as PALB2 or FANCN, is a protein which in humans is encoded by the PALB2 gene. This ... February 2007). "PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene". Nature Genetics. 39 ... October 2010). "Cooperation of breast cancer proteins PALB2 and piccolo BRCA2 in stimulating homologous recombination". Nature ...
HMG20B
Wang C, McCarty IM, Balazs L, Li Y, Steiner MS (July 2002). "Cloning a cDNA encoding an alternatively spliced protein of BRCA2- ... Lee YM, Kim W (September 2003). "Association of human kinesin superfamily protein member 4 with BRCA2-associated factor 35". ... Lee YM, Kim W (September 2003). "Association of human kinesin superfamily protein member 4 with BRCA2-associated factor 35". ... "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173-8. doi:10.1038/ ...
KIF4A
Lee YM, Kim W (Sep 2003). "Association of human kinesin superfamily protein member 4 with BRCA2-associated factor 35". The ... "Association of human kinesin superfamily protein member 4 with BRCA2-associated factor 35". The Biochemical Journal. 374 (Pt 2 ... Tang Y, Winkler U, Freed EO, Torrey TA, Kim W, Li H, Goff SP, Morse HC (Dec 1999). "Cellular motor protein KIF-4 associates ... Sekine Y, Okada Y, Noda Y, Kondo S, Aizawa H, Takemura R, Hirokawa N (Oct 1994). "A novel microtubule-based motor protein (KIF4 ...
PARP inhibitor
BRCA1, BRCA2 and PALB2 are proteins that are important for the repair of double-strand DNA breaks by the error-free homologous ... 2010). "Cooperation of breast cancer proteins PALB2 and piccolo BRCA2 in stimulating homologous recombination". Nature ... PARP1 is a protein that is important for repairing single-strand breaks ('nicks' in the DNA). If such nicks persist unrepaired ... When the gene for one of these proteins is mutated, the change can lead to errors in DNA repair that can eventually cause ...
SNAI2
"Regulation of BRCA2 gene expression by the SLUG repressor protein in human breast cells". The Journal of Biological Chemistry. ... The encoded protein acts as a transcriptional repressor that binds to E-box motifs and is also likely to repress E-cadherin ... Zinc finger protein SNAI2 is a transcription factor that in humans is encoded by the SNAI2 gene. It promotes the ... This protein is involved in epithelial-mesenchymal transitions and has antiapoptotic activity. It regulates differentiation and ...
BRCA1 - Wikipédia, a enciclopédia livre
Analysis of murine Brca2 reveals conservation of protein-protein interactions but differences in nuclear localization signals ... Daniel DC (2002). «Highlight: BRCA1 and BRCA2 proteins in breast cancer». Microsc Res Tech. 59 (1): 68-83. PMID 12242698. doi: ... ubiquitin protein ligase binding. • transcription regulatory region DNA binding. • ubiquitin-protein transferase activity. • ... Structural consequences and effects on protein-protein interactions». J. Biol. Chem. 276 (44): 41399-406. PMID 11526114. doi: ...
Abcam
Milner was a postdoctoral researcher studying the newly discovered breast cancer protein BRCA2 in Kouzarides' Cambridge ... It supplies antibody related products such as immunoassays (e.g. SimpleStep ELISA Kits), peptides, proteins and protein ... Abcam is a producer, distributor and seller of protein research tools. The company was founded in 1998 by Jonathan Milner with ... United Kingdom that provided high-quality biochemical products that modulate the function of proteins for use in life science ...
DHX32
... an evolutionarily conserved nuclear protein that interacts with BRCA2". Oncogene. 20 (3): 336-45. doi:10.1038/sj.onc.1204098. ... DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated ... Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis ... 2007). "Altered distribution of heat shock protein 60 (Hsp60) with dysregulated expression of DHX32". Exp. Mol. Pathol. 82 (3 ...
SHFM1
"Interaction between the product of the breast cancer susceptibility gene BRCA2 and DSS1, a protein functionally conserved from ... "Interaction between the product of the breast cancer susceptibility gene BRCA2 and DSS1, a protein functionally conserved from ... "BRCA2 function in DNA binding and recombination from a BRCA2-DSS1-ssDNA structure". Science. 297 (5588): 1837-48. Bibcode: ... "BRCA2 function in DNA binding and recombination from a BRCA2-DSS1-ssDNA structure". Science. 297 (5588): 1837-48. Bibcode: ...
B. J. Rao
... the biochemical mechanism of regulation of homologous recombination by tumour suppressors such as P53 and BRCA2 proteins. Other ... Rao and his collaborators of Genome Dynamics Lab are interested in mapping and understanding the promiscuity scores of protein ... His areas of specializations are molecular basis of genome dynamics, computational biology of genomes and protein active sites ... Computational Biology: Computational Genomics of organellar genomes; Computational analyses of protein active site geometry, ...
BRCA1
The BRCA2 protein, which has a function similar to that of BRCA1, also interacts with the RAD51 protein. By influencing DNA ... Breast cancer type 1 susceptibility protein is a protein that in humans is encoded by the BRCA1 (/ˌbrækəˈwʌn/) gene.[5] ... BRCA1 and BRCA2 are unrelated proteins,[10] but both are normally expressed in the cells of breast and other tissue, where they ... "Analysis of murine Brca2 reveals conservation of protein-protein interactions but differences in nuclear localization signals ...
Kum Kum Khanna
... involved in regulation of final stage of cell cycle and have functionally characterized BRCA2 interacting protein, Centrobin. " ... she has made seminal discoveries in identifying single-stranded DNA binding proteins, hSSB1 and hSSB2 involved in DNA repair; a ...
Cancer biomarker
Other Examples of Biomarkers: Tumor Suppressors Lost in Cancer Examples: BRCA1, BRCA2 RNA Examples: mRNA, microRNA Proteins ... Li Y, Ye X, Liu J, Zha J, Pei L (January 2011). "Evaluation of EML4-ALK fusion proteins in non-small cell lung cancer using ... Mutant Proteins themselves detected by Selected Reaction Monitoring (SRM) have been reported to be the most specific biomarkers ... In many areas of medicine, biomarkers are limited to proteins identifiable or measurable in the blood or urine. However, the ...
Basal-like carcinoma
June 2007). "Loss of nuclear BRCA1 protein staining in normal tissue cells derived from BRCA1 and BRCA2 mutation carriers". ... Abnormal expression of other BRCA1 related proteins such as Fanconi protein, Bloom syndrome protein, Rad50 can also be the ... The basal-like carcinoma is a recently proposed subtype of breast cancer defined by its gene expression and protein expression ... Although the molecular biology mechanisms for BRCA1 and BRCA2 are not understood very well, more and more evidence shows that ...
Fanconi anemia
The core complex adds ubiquitin, a small protein that combines with BRCA2 in another cluster to repair DNA (see Figure ... that is detected by the FANCM protein. Following assembly, the protein core complex activates FANCL protein which acts as an E3 ... Recent studies have shown that eight of these proteins, FANCA, -B, -C, -E, -F, -G, -L and -M, assemble to form a core protein ... With a crippling mutation in any FA protein in the complex, DNA repair is much less effective, as shown by its response to ...
Corn smut
... and Brh2 protein that is a streamlined version of the mammalian Breast Cancer 2 (BRCA2) protein. When any of these proteins is ... Corn smut contains much more protein than regular corn does. The amino acid lysine, of which corn contains very little, abounds ... It also contains more cholesterol reducing beta-glucens than oatmeal, and more protein than most of the mushroom family. The ... The fungus is mostly studied as model organism for host pathogen interaction and delivery of effectors protein Ustilago maydis ...
Ketan J. Patel
... where he contributed to the discovery that the BRCA2 protein functions in repairing damaged DNA. Patel eventually joined the ... "Involvement of Brca2 in DNA repair". Molecular Cell. 1 (3): 347-57. doi:10.1016/s1097-2765(00)80035-0. PMID 9660919. CS1 maint ...
FANCD2
... resulting in its localization to nuclear foci with other proteins (BRCA1 and BRCA2) involved in homology-directed DNA repair ( ... Fanconi anemia group D2 protein is a protein that in humans is encoded by the FANCD2 gene. The Fanconi anemia complementation ... Gordon SM, Buchwald M (July 2003). "Fanconi anemia protein complex: mapping protein interactions in the yeast 2- and 3-hybrid ... Gordon SM, Buchwald M (July 2003). "Fanconi anemia protein complex: mapping protein interactions in the yeast 2- and 3-hybrid ...
Replication protein A1
"Interaction between BRCA2 and replication protein A is compromised by a cancer-predisposing mutation in BRCA2". Oncogene. 22 (1 ... Replication protein A Replication protein A2 Replication protein A3 Single-stranded binding protein GRCh38: Ensembl release 89 ... Replication protein A 70 kDa DNA-binding subunit is a protein that in humans is encoded by the RPA1 gene. Replication protein ... Amacker M, Hottiger M, Mossi R, Hübscher U (1997). "HIV-1 nucleocapsid protein and replication protein A influence the strand ...
CREB-binding protein
"CBP-mediated post-translational N-glycosylation of BRCA2". International Journal of Oncology. 35 (2): 387-91. doi:10.3892/ijo_ ... CREB-binding protein, also known as CREBBP or CBP, is a protein that in humans is encoded by the CREBBP gene. The CREB protein ... This protein acetylates both histone and non-histone proteins. This protein shares regions of very high sequence similarity ... CREB-binding protein has been shown to interact with: TF2, AR, AIRE, BRCA1, C-jun, CSK, Ccaat-enhancer-binding proteins, CDX2, ...
Platelet-derived growth factor
Binding proteins: IGFBP (1, 2, 3, 4, 5, 6, 7). *Cleavage products/derivatives with unknown target: Glypromate (GPE, (1-3)IGF-1) ... a b Proto-Oncogene+Proteins+c-sis at the US National Library of Medicine Medical Subject Headings (MeSH) ... Hannink M, Donoghue DJ (1989). "Structure and function of platelet-derived growth factor (PDGF) and related proteins". Biochim ... The first engineered dominant negative protein was designed to inhibit PDGF [29] ...
سرطان پروستات - ویکیپدیا، دانشنامهٔ آزاد
Mutations in BRCA1 and BRCA2, important risk factors for ovarian cancer and breast cancer in women, have also been implicated ... The protein ZIP1 is responsible for the active transport of zinc into prostate cells. One of the zinc's important roles is to ... Prostate specific membrane antigen is a transmembrane carboxypeptidase and exhibits folate hydrolase activity.[75] This protein ... The absence of zinc is thought to occur via a silencing of the gene that produces the transporter protein ZIP1. ZIP1 is now ...
p21
protein binding. • cyclin-dependent protein serine/threonine kinase inhibitor activity. • ubiquitin protein ligase binding. • ... cyclin-dependent protein serine/threonine kinase activity. • protein kinase inhibitor activity. • protein kinase binding. • ... This article is about the p21Cip1 protein. For the p21/ras protein, see Ras (protein). For other uses, see P21 (disambiguation) ... protein stabilization. • positive regulation of cyclin-dependent protein kinase activity. • regulation of transcription from ...
Introduction to genetics
However, if the alleles for a particular protein have different sequences and produce proteins that can't do their jobs, no ... such as BRCA1 and BRCA2, but not all of them. However, although some of the risk is genetic, the risk of this cancer is also ... Each type of protein is a specialist that only does one job, so if a cell needs to do something new, it must make a new protein ... determines what the protein does.[10] For example, some proteins have parts of their surface that perfectly match the shape of ...
Non-small-cell lung carcinoma
These people have been shown to be sensitized to certain medications which block the EGFR protein known as tyrosine kinase ... BRCA2, and XRCC5 in non-small cell lung cancer". Clin. Cancer Res. 13 (3): 832-8. doi:10.1158/1078-0432.CCR-05-2694. PMID ... however certain aberrations will result in hyperactive forms of the protein. People with these mutations are more likely to ...
Cell damage
Bernstein, C; Bernstein, H; Payne, CM; Garewal, H (2002). "DNA repair/pro-apoptotic dual-role proteins in five major DNA repair ... "Disruption of Brca2 increases the spontaneous mutation rate in vivo: synergism with ionizing radiation". EMBO Rep. 3 (3): 255- ... which trigger cell death through the cleaving of specific proteins in the cytoplasm and nucleus.[11] The dying cells shrink and ...
Cancer
BRCA1, BRCA2 Breast, ovarian, pancreatic HNPCC, MLH1, MSH2, MSH6, PMS1, PMS2 Colon, uterine, small bowel, stomach, urinary ... "Negative regulation of BRCA1 gene expression by HMGA1 proteins accounts for the reduced BRCA1 protein levels in sporadic breast ... miRNAs do not code for proteins, but can "target" protein-coding genes and reduce their expression. ... An average cancer of the breast or colon can have about 60 to 70 protein-altering mutations, of which about three or four may ...
CDH1 (gene)
protein binding. • ankyrin binding. • gamma-catenin binding. • beta-catenin binding. • GTPase activating protein binding. • ... Oneyama C, Nakano H, Sharma SV (March 2002). "UCS15A, a novel small molecule, SH3 domain-mediated protein-protein interaction ... Several proteins such as SNAI1/SNAIL,[58][59] ZFHX1B/SIP1,[60] SNAI2/SLUG,[61][62] TWIST1[63] and DeltaEF1[64] have been found ... identical protein binding. Cellular component. • cell-cell adherens junction. • apical junction complex. • trans-Golgi network ...
Micronucleus
Since assembly of kinetochore proteins at centromeres is affected by the methylation of cytosine and histone proteins, a ... BRCA2, and RAD51) result in a dysfunctional error-free homologous recombinational DNA repair pathway and causes the cell to ... irregularities in kinetochore proteins or their assembly, dysfunctional spindle apparatus, or flawed anaphase checkpoint genes. ...
Genetic recombination
The RAD51 protein is required for mitotic and meiotic recombination, whereas the DNA repair protein, DMC1, is specific to ... such as BRCA1 and BRCA2, increase the risk of cancer (see DNA repair-deficiency disorder). ... Techniques based on genetic recombination are also applied in protein engineering to develop new proteins of biological ... In the archaea, the ortholog of the bacterial RecA protein is RadA. ...
Քաղցկեղ - Վիքիպեդիա՝ ազատ հանրագիտարան
Negative regulation of BRCA1 gene expression by HMGA1 proteins accounts for the reduced BRCA1 protein levels in sporadic breast ... Disruption of Brca2 increases the spontaneous mutation rate in vivo: synergism with ionizing radiation»։ EMBO Reports 3 (3): ... 142,0 142,1 «The clinical management of BRCA1 and BRCA2 mutation carriers»։ Current Oncology Reports 10 (1): 47-53։ January ... BRCA1 BRCA2. կրծքագեղձի, ձվարանների, ենթաստամոքսային գեղձի քաղցկեղ HNPCC, MLH1, MSH2, MSH6, PMS1, PMS2. հաստ աղու, միզապարկի, ...
PARP1, a enciclopedia libre
Interacción con BRCA1 e BRCA2[editar , editar a fonte]. Tanto BRCA1 coma BRCA2 son polo menos parcialmente necesarios para que ... Morgan HE, Jefferson LS, Wolpert EB, Rannels DE (Apr 1971). "Regulation of protein synthesis in heart muscle. II. Effect of ... As células que son deficientes en BRCA1 ou BRCA2 son moi sensibles á inhibición da PARP1 ou ao seu knock-down, o que ten como ... Moitos cancros de mama teñen defectos na vía de reparación recombinacional homóloga de BRCA1/BRCA2 debido a mutacións en BRCA1 ...
BRCA mutation
Further information: BRCA1 and BRCA2. Women with deleterious mutations in either the BRCA1 or BRCA2 genes have a high risk of ... Both genes produce proteins that help repair damaged DNA, keeping the genetic material of the cell stable. A damaged BRCA gene ... BRCA1 and BRCA2 at Lab Tests Online. *BRCA Exchange, large database of BRCA1 and BRCA2 variants with pathogenicity ... isolated and sequenced the BRCA2 gene and identified key mutations, and the first BRCA2 patent was filed in the U.S. by Myriad ...
புற்று நோய் - தமிழ் விக்கிப்பீடியா
சில மரபுசார்ந்த திசுமரபு பிறழ்வுகள் BRCA1 மற்றும் BRCA2 வகையான உயிரணுக்களில் அதிக அளவிலான மார்பக புற்றுநோய் மற்றும் முட்டையகப் ... Retinoblastoma protein) அல்லது புற்று நோய் வரமால் தடுக்கும் மரபணுவில் (p53) ஏற்படும் பிறழ்வுகளினால் உயிரணு பிரிதல் ... இறுதியாக,BRCA1 மற்றும் BRCA2 வில் ஏற்படும் மரபுரிமை பிறழ்வுகள் விரைவாக மார்பக புற்றுநோய் தொடக்கத்திற்கு வித்திடும். ...
Chromosomal crossover
One such particular protein complex that is conserved between processes is RAD51, a well conserved recombinase protein that has ... Such genes include mei-41, mei-9, hdm, spnA, and brca2.[5] This large group of conserved genes between processes supports the ... Mismatch repair (MMR) proteins, for instance, are a well-known regulatory family of proteins, responsible for regulating ... The MSH4 and MSH5 proteins form a hetero-oligomeric structure (heterodimer) in yeast and humans.[16][17][18] In the yeast ...
RET proto-oncogene
protein kinase activity. • kinase activity. • protein binding. • protein tyrosine kinase activity. • ATP binding. • Ras guanyl- ... membrane protein proteolysis. • phosphorylation. • transmembrane receptor protein tyrosine kinase signaling pathway. • positive ... Binding proteins: IGFBP (1, 2, 3, 4, 5, 6, 7). *Cleavage products/derivatives with unknown target: Glypromate (GPE, (1-3)IGF-1) ... "The Ret receptor protein tyrosine kinase associates with the SH2-containing adapter protein Grb10". J. Biol. Chem. 270 (37): ...
Cancer syndrome
The protein produced by the TP53 gene, p53, is involved in cell cycle arrest, DNA repair and apoptosis. Defective p53 may not ... BRCA1 and BRCA2 are both tumor suppressor genes implicated in maintaining and repairing DNA. Mutations in these genes allow ... Although the exact role of this protein in NBCCS is not known, it is involved in the hedgehog signaling pathway, known to ... XPA-XPF are nucleotide excision repair enzymes that repair UV light-damaged DNA and faulty proteins will allow the buildup of ...
Germline mutation
This editing system induces a double stranded break in the DNA, using a guide RNA and effector protein Cas9 to break the DNA ... Other examples include mutations in the BRCA1 and BRCA2 genes which predispose to breast and ovarian cancer, or mutations in ... protein, then their children have a 25% of inheriting the disease.[23] If a child has 1 mutated copy of CFTR, they will not ... The ZFN editing complex consists of a zinc finger protein (ZFP) and a restriction enzyme cleavage domain.[32] The ZNP domain ...
Corn smut
... and Brh2 protein that is a streamlined version of the mammalian Breast Cancer 2 (BRCA2) protein. When any of these proteins is ... Corn smut contains much more protein than regular corn does. The amino acid lysine, of which corn contains very little, abounds ... Kojic, M; Kostrub, CF; Buchman, AR; Holloman, WK (2002). "BRCA2 Homolog Required for Proficiency in DNA Repair, Recombination, ... This system also involves a protein, Rec2 that is more distantly related to Rad51, ...
Շագանակագեղձի քաղցկեղ - Վիքիպեդիա՝ ազատ հանրագիտարան
The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews»։ The New England Journal of ... Expression of X-linked inhibitor of apoptosis protein in human prostate cancer specimens with and without neo-adjuvant hormonal ... Շագանակագեղձի քաղցկեղի առաջացման համար պատասխանատու են տարբեր գեներ: BRCA1 և BRCA2 գեների մուտացիաները կարևոր ռիսկի գործոններ ...
Pancreatic cancer
"The human pathology proteome in pancreatic cancer - The Human Protein Atlas". www.proteinatlas.org. Retrieved 28 September 2017 ... autosomal recessive ataxia-telangiectasia and autosomal dominantly inherited mutations in the BRCA2 gene and PALB2 gene; ... This is also true of protein-bound paclitaxel (nab-paclitaxel), which was licensed by the FDA in 2013 for use with gemcitabine ...
Genetic testing
... is "the analysis of chromosomes (DNA), proteins, and certain metabolites in order to detect heritable disease- ... Hereditary breast cancer along with ovarian cancer syndrome are caused by gene alterations in the genes BRCA1 and BRCA2. Major ... Genetic testing identifies changes in chromosomes, genes, or proteins.[1] The variety of genetic tests has expanded throughout ... The sample is sent to a laboratory where technicians look for specific changes in chromosomes, DNA, or proteins, depending on ...
Somatic evolution in cancer
Deficiency of DNA repair proteins PMS2, MLH1, MSH2, MSH3, MSH6 or BRCA2 can cause up to 100-fold increases in mutation ... Alterations in co-regulatory proteins *Interactions between the SERM, ER, and co-regulatory proteins may influence whether the ... Epigeneticically deficient DNA repair proteins include BRCA1, WRN, MGMT, MLH1, MSH2, ERCC1, PMS2, XPF, P53, PCNA and OGG1, and ... For instance, when loss of expression of the DNA repair protein MGMT occurs in a colon cancer, it is caused by a mutation only ...
Hromosom 13 (čovjek)
BRCA2: rak dojke, kancer 2, rani. *CARKD: domen karbohidratne kinaze, protein (nepoznate fukkcije) ... SOX21: transcripcijski faktor SOX-21, protein koji je kodiran SOX21; poremećaj može dovesti do alopecije (kod miševa). ...
Carcinogenesis
Oncogenes often produce mitogens, or are involved in transcription of DNA in protein synthesis, which creates the proteins and ... Finally, inherited mutations in BRCA1 and BRCA2 lead to early onset of breast cancer. ... They often produce mitogens, or are involved in transcription of DNA in protein synthesis, which create the proteins and ... Within this protein-coding DNA (called the exome), an average cancer of the breast or colon can have about 60 to 70 protein ...
Replikacioni protein A1 - Википедија, слободна енциклопедија
Interaction between BRCA2 and replication protein A is compromised by a cancer-predisposing mutation in BRCA2". Oncogene. 22 (1 ... Replikacioni protein A, 70 kDa DNK vezujuća podjedinica je protein koji je kod ljudi kodiran RPA1 genom.[2] ... Amacker M, Hottiger M, Mossi R, Hübscher U (1997). „HIV-1 nucleocapsid protein and replication protein A influence the strand ... Interaction of human rad51 recombination protein with single-stranded DNA binding protein, RPA.". Nucleic Acids Res. 26 (23): ...
Mdm2
protein binding. • enzyme binding. • metal ion binding. • identical protein binding. • ubiquitin protein ligase binding. • p53 ... protein ubiquitination. • negative regulation of protein processing. • establishment of protein localization. • response to ... protein deubiquitination. • protein sumoylation. • transcription factor catabolic process. • protein autoubiquitination. • ... Mouse double minute 2 homolog (MDM2) also known as E3 ubiquitin-protein ligase Mdm2 is a protein that in humans is encoded by ...
Homo sapiens BRCA2 and CDKN1A interacting protein (BCCIP), transcript - Nucleotide - NCBI
Homo sapiens BRCA2 and CDKN1A interacting protein (BCCIP), transcript variant A,... Homo sapiens BRCA2 and CDKN1A interacting ... Homo sapiens BRCA2 and CDKN1A interacting protein (BCCIP), transcript variant A, mRNA. NCBI Reference Sequence: NM_016567.3 ... LSBio BCCIP Proteins [LifeSpan BioSciences, Inc.] LSBio BCCIP Proteins. LifeSpan BioSciences, Inc. ... The tool works with standard single letter nucleotide or protein codes including ambiguities and can match Prosite patterns in ...
Suppression of the DNA repair defects of BRCA2-deficient cells with heterologous protein fusions | PNAS
Suppression of the DNA repair defects of BRCA2-deficient cells with heterologous protein fusions. Hiroshi Saeki, Nicolas Siaud ... Expression of any of these protein fusions in Brca2 mutant cells substantially improved HDR while suppressing mutagenic repair ... Suppression of the DNA repair defects of BRCA2-deficient cells with heterologous protein fusions ... Because as little as 2% of BRCA2 fused to RPA is sufficient to suppress cellular defects found in Brca2-mutant mammalian cells ...
BRCA2 - Antibodies - The Human Protein Atlas
BRCA2 (BRCC2, FACD, FAD, FAD1, FANCD, FANCD1, XRCC11) ... PROTEIN ARRAY Validationi. A protein array containing 384 ... Protein evidence (Ezkurdia et al 2014). Protein evidence (Kim et al 2014). RAS pathway related proteins. Ribosomal proteins. ... BRCA2-201 - ENSP00000439902 [100%] ANTIGEN VIEWi. The protein browser displays the antigen location on the target protein(s) ... Plasma proteins. Potential drug targets. Predicted intracellular proteins. Predicted membrane proteins. Predicted secreted ...
emsy - BRCA2-interacting transcriptional repressor EMSY - Danio rerio (Zebrafish) - emsy gene & protein
Protein-protein interaction databases. STRING: functional protein association networks. More...STRINGi. 7955.ENSDARP00000092435 ... BRCA2-interacting transcriptional repressor EMSYAdd BLAST. 1173. Proteomic databases. PaxDb, a database of protein abundance ... to allow unambiguous identification of a protein.,p>,a href=/help/protein_names target=_top>More...,/a>,/p>Protein namesi. ... section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes ...
PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene
... similar to biallelic BRCA2 mutations, cause Fanconi anemia. We identified monoallelic truncating PALB2 mutations in 10/923 ... PALB2 interacts with BRCA2, and biallelic mutations in PALB2 (also known as FANCN), ... PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene Nat Genet. 2007 Feb;39(2):165-7. doi: ... PALB2 interacts with BRCA2, and biallelic mutations in PALB2 (also known as FANCN), similar to biallelic BRCA2 mutations, cause ...
First pictures of BRCA2 protein shows role in DNA repair and cancer risk
It is well established that faults in the BRCA2 gene (and the BRCA1 gene that prompted actress Angelina Jolie to undergo a ... Our study reveals that BRCA2 proteins exist as pairs and a BRCA2 pair recruits two sets of RAD51 molecules. Our study also ... However, to study protein structures we need to find a way to extract the protein of interest from other proteins in the cell. ... The importance of the BRCA2 protein lies in the central roles it plays in DNA damage repair - but weve never actually seen it ...
British Library EThOS: Control of the RAD51 recombinase by the BRC repeat motifs in the breast cancer susceptibility protein...
Control of the RAD51 recombinase by the BRC repeat motifs in the breast cancer susceptibility protein BRCA2 ... The interaction between the breast cancer susceptibility protein BRCA2 and the RAD51 DNA recombinase is essential for DNA ... Studies to define the biochemical and biological features of the BRCA2:RAD51 interaction are described. Human BRCA2 features ... both independently and collectively within the context of the BRCA2 protein. A single point mutation within an individual BRC ...
QPrEST BRCA2 Mass Spectrometry Protein Standard (QPrEST24928) - Atlas Antibodies
Lys, Arg ¹³C and ¹⁵N metabolically labeled recombinant protein fragment. ... Stable isotope-labeled standard for absolute protein quantification of BRCA2. ... QPrEST BRCA2 Mass Spectrometry Protein Standard. Breast cancer type 2 susceptibility protein ... Stable isotope-labeled standard for absolute protein quantification of BRCA2.. Lys, Arg ¹³C and ¹⁵N metabolically labeled ...
Abnormal Cytokinesis in Cells Deficient in the Breast Cancer Susceptibility Protein BRCA2 | Science
Abnormal Cytokinesis in Cells Deficient in the Breast Cancer Susceptibility Protein BRCA2 ... Abnormal Cytokinesis in Cells Deficient in the Breast Cancer Susceptibility Protein BRCA2 ... Abnormal Cytokinesis in Cells Deficient in the Breast Cancer Susceptibility Protein BRCA2 ... Abnormal Cytokinesis in Cells Deficient in the Breast Cancer Susceptibility Protein BRCA2 ...
brcc3 Protein, BRCA1/BRCA2-containing complex, subunit 3 - Creative BioMart
This gene encodes a subunit of the BRCA1-BRCA2-containing complex (BRCC), which is an E3 ubiquitin ligase. This complex plays a ... Recombinant Human BRCC3 Protein, GST-tagged. Wheat Germ. Human. GST. +Inquiry. BRCC3-2481M. Recombinant Mouse BRCC3 Protein. ... Interacting Protein. BRCC3 has direct interactions with proteins and molecules. Those interactions were detected by several ... Recombinant Human BRCC3 protein, His-tagged. E. coli. Human. His. +Inquiry. BRCC3-328H. ...
PALB2 Functionally Connects the Breast Cancer Susceptibility Proteins BRCA1 and BRCA2 | Molecular Cancer Research
Associated protein complexes were isolated on glutathione beads. The presence of BRCA2 or PALB2 in isolated protein complexes ... and was first identified by its interaction with BRCA2 protein (14). PALB2 is required for the localization of BRCA2 to sites ... PALB2 Functionally Connects the Breast Cancer Susceptibility Proteins BRCA1 and BRCA2. Fan Zhang, Qiang Fan, Keqin Ren and Paul ... PALB2 Functionally Connects the Breast Cancer Susceptibility Proteins BRCA1 and BRCA2. Fan Zhang, Qiang Fan, Keqin Ren and Paul ...
The BRCA2-Interacting Protein BCCIP Functions in RAD51 and BRCA2 Focus Formation and Homologous Recombinational Repair |...
The BRCA2-Interacting Protein BCCIP Functions in RAD51 and BRCA2 Focus Formation and Homologous Recombinational Repair. Huimei ... The BCCIP proteins share no significant homology to other mammalian proteins. Although the interaction between BCCIPα and BRCA2 ... The BRCA2-Interacting Protein BCCIP Functions in RAD51 and BRCA2 Focus Formation and Homologous Recombinational Repair ... The BRCA2-Interacting Protein BCCIP Functions in RAD51 and BRCA2 Focus Formation and Homologous Recombinational Repair ...
Evidence that the tumor-suppressor protein BRCA2 does not regulate cytokinesis in human cells | Journal of Cell Science
Evidence that the tumor-suppressor protein BRCA2 does not regulate cytokinesis in human cells ... BRCA2 plays a well-established role in maintaining genome stability by regulating homologous recombination. BRCA2 has more ... Evidence that the tumor-suppressor protein BRCA2 does not regulate cytokinesis in human cells ... Evidence that the tumor-suppressor protein BRCA2 does not regulate cytokinesis in human cells ...
A meiosis-specific BRCA2 binding protein recruits recombinases to DNA double-strand breaks to ensure homologous recombination. ...
... Recombinase recruited to the DSBs by the mediator protein BRCA2 catalyzes the homology-directed repair. During meiotic HR, ... MEILB2 directly binds to BRCA2 and regulates its association to meiotic DSBs. We map the MEILB2-binding domain within BRCA2 ... Here we identify a meiotic localizer of BRCA2, MEILB2/HSF2BP, that localizes to the site of meiotic DSBs in mice. Disruption of ...
PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene - Semantic Scholar
... similar to biallelic BRCA2 mutations, cause Fanconi anemia. We identified monoallelic truncating PALB2 mutations in 10/923 ... PALB2 interacts with BRCA2, and biallelic mutations in PALB2 (also known as FANCN), ... PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. @article{Rahman2007PALB2WE, title={ ... PALB2 interacts with BRCA2, and biallelic mutations in PALB2 (also known as FANCN), similar to biallelic BRCA2 mutations, cause ...
Interactions between human BRCA2 protein and the meiosis‐specific recombinase DMC1 | The EMBO Journal
BRCA22045-2113); B2‐6 (BRCA22106-2472); B2‐6.5 (BRCA22340-2472); B2‐9 (BRCA23189-3418); TR2 (BRCA23265-3330). A large BRCA2 ... BRCA2996-1084); BRC2 (BRCA21206-1274); BRC3 (BRCA21415-1483); BRC4 (BRCA21511-1579); BRC5 (BRCA21658-1726); BRC6 (BRCA21831- ... B2‐6.1 is BRCA22106-2190; B2‐6.2 is BRCA22106-2218; B2‐6.3 is BRCA22190-2260; B2‐6.4 is BRCA22218-2340; B2‐6.5 is BRCA22340- ... IR1 is BRCA22340-2407; IR2 is BRCA22350-2417; IR3 is BRCA22371-2438; IR4 is BRCA22405-2472. (B) Interactions between the ...
BRCA2 Protein | Profiles RNS
"BRCA2 Protein" by people in this website by year, and whether "BRCA2 Protein" was a major or minor topic of these publications ... A large, nuclear protein, encoded by the BRCA2 gene (GENE, BRCA2). Mutations in this gene predispose humans to breast and ... "BRCA2 Protein" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH (Medical Subject ... The BRCA2 protein is an essential component of DNA repair pathways, suppressing the formation of gross chromosomal ...
The Frequency of Germ-line Mutations in the Breast Cancer Predisposition Genes BRCA1 AND BRCA2 in Familial Prostate Cancer |...
Immunohistochemical expression of BRCA2 protein and allelic loss at the BRCA2 locus in prostate cancer. Int. J. Cancer, 78: 1-7 ... Immunohistochemical Staining for BRCA2 Protein.. Sections (4 μm) were cut from blocks of prostate cancer tissue, picked up on ... The protein truncation test performed for BRCA2. a, analysis of PTT fragment 4 in affected individual 201 from family PRY1042 ... The majority of germ-line mutations reported in BRCA1 and BRCA2 result in truncation of the predicted protein as a result of ...
BRCA2 Gene News, Research - Page 2
Scientists show how BRCA2 protein works to repair damaged DNA Scientists have taken pictures of the BRCA2 protein for the first ... BRCA2 Gene News and Research. RSS BRCA2 is a gene on chromosome 13 that normally helps to suppress cell growth. A person who ... BRCA2 gene doubles lung cancer risk among smokers Around a quarter of smokers who carry a defect in the BRCA2 gene will develop ... BRCA1 and BRCA2 genes are two of the most well studied genes in the cancer field. They are tumor suppressors - mutations in ...
Suppression of the DNA repair defects of BRCA2-deficient cells with heterologous protein fusions<...
Suppression of the DNA repair defects of BRCA2-deficient cells with heterologous protein fusions. Proceedings of the National ... Suppression of the DNA repair defects of BRCA2-deficient cells with heterologous protein fusions. In: Proceedings of the ... Suppression of the DNA repair defects of BRCA2-deficient cells with heterologous protein fusions. / Saeki, Hiroshi; Siaud, ... Expression of any of these protein fusions in Brca2 mutant cells substantially improved HDR while suppressing mutagenic repair ...
BRCA2 interacting proteins | Breast Cancer Research | Full Text
BRCA2 encodes a protein of 3418 amino acids with a molecular weight of 384 kDa. The biological function of BRCA2 is, as yet, ... Preliminary data indicate that BRCA2 interacts with Stat proteins upon ligand stimulation. Identification of proteins that ... Two breast cancer susceptibility genes (BRCA1 and BRCA2) have been cloned. A BRCA2 founder mutation, BRCA2 999del5, accounts ... In an effort to elucidate the cellular function of BRCA2, we have studied the interaction between BRCA2 and other cellular ...
FANCG promotes formation of a newly identified protein complex containing BRCA2, FANCD2 and XRCC3<...
... or full length BRCA2 protein, lack the interactions amongst the four component proteins. A role for D1-D2-G-X3 in homologous ... or full length BRCA2 protein, lack the interactions amongst the four component proteins. A role for D1-D2-G-X3 in homologous ... or full length BRCA2 protein, lack the interactions amongst the four component proteins. A role for D1-D2-G-X3 in homologous ... or full length BRCA2 protein, lack the interactions amongst the four component proteins. A role for D1-D2-G-X3 in homologous ...
Study of a single BRCA2 mutation with high carrier frequency in a small population
Mutations in the BRCA2 gene have been studied mainly in families with high risk of breast cancer in females, and male breast ... Germ-line changes in the cancer-predisposition gene BRCA2 are found in a small proportion of breast cancers. ... cancer also has been associated with BRCA2 mutations. The importan … ... BRCA2 Protein * Breast Neoplasms / epidemiology * Breast Neoplasms / genetics* * Breast Neoplasms, Male / epidemiology ...
Recombinant Human Breast cancer type 2 susceptibility protein(BRCA2) ,partial - Cusabio
BRCA2) ,partial. It is produced in Yeast. High purity. Good price. ... Purchase Recombinant Human Breast cancer type 2 susceptibility protein( ... BRCA 2; BRCA1/BRCA2 containing complex subunit 2; Brca2; BRCA2; DNA repair associated; BRCA2_HUMAN; BRCC 2; BRCC2; Breast and ... two had germline BRCA2 mutations. The third patient had somatic BRCA2 homozygous copy loss. Biallelic BRCA2 inactivation in ...
PubPeer - APRIN is a cell cycle specific BRCA2-interacting protein req...
BRCA2 is inactivated late in the development of pancreatic intraepithelial neoplasia: evidence and implications
We investigated the prevalence of biallelic inactivation of BRCA2 in the presumed precursors to invasive pancreatic ductal ... Patients harboring germline BRCA2 mutations are at an increased risk of developing pancreatic cancer. ... Neoplasm Proteins / genetics* * Pancreatic Neoplasms / genetics* * Pancreatic Neoplasms / pathology * Transcription Factors / ... BRCA2 is inactivated late in the development of pancreatic intraepithelial neoplasia: evidence and implications Am J Pathol. ...
RCSB PDB - Protein Feature View
- BRCA2-interacting transcriptional repressor EMSY - Q7Z589 (EMSY HUMAN)
The PDB archive contains information about experimentally-determined structures of proteins, nucleic acids, and complex ... Its interaction with BRCA2 suggests that it may play a central role in the DNA repair function of BRCA2 (PubMed:14651845). ... This protein in other organisms (by gene name): Q7Z589 - Homo sapiens 3 * Q17RM7 - Homo sapiens no matching PDB entries ... Protein disorder predictions are based on JRONN (Troshin, P. and Barton, G. J. unpublished), a Java implementation of RONN * ...
nature.com search
Cooperation of breast cancer proteins PALB2 and piccolo BRCA2 in stimulating homologous recombination * [email protected] ... Rights & permissionsfor article Cooperation of breast cancer proteins PALB2 and piccolo BRCA2 in stimulating homologous ... Emerging roles of eraser enzymes in the dynamic control of protein ADP-ribosylation * [email protected] ... Rights & permissionsfor article Emerging roles of eraser enzymes in the dynamic control of protein ADP-ribosylation . Opens in ...
BRCA2 gene: MedlinePlus Genetics
The BRCA2 gene provides instructions for making a protein that acts as a tumor suppressor. Learn about this gene and related ... The BRCA2 protein is involved in repairing damaged DNA. In the nucleus of many types of normal cells, the BRCA2 protein ... Most BRCA2 gene mutations lead to the production of an abnormally small, nonfunctional version of the BRCA2 protein from one ... The BRCA2 gene provides instructions for making a protein that acts as a tumor suppressor. Tumor suppressor proteins help ...
The BRC repeats in BRCA2 are critical for RAD51 binding and resistance to methyl methanesulfonate treatment | PNAS
A) Identification of Capan-1 with a truncated BRCA2 protein. Cell lines surveyed for altered BRCA2 protein expression were as ... we have determined that the gene product of BRCA2 is a 390-kDa nuclear protein. The BRCA2 390-kDa protein directly binds to ... BRCA2 Is a 390-kDa Nuclear Protein.. To explore potential functions for BRCA2, a full-length cDNA was constructed from four ... The truncated BRCA2 protein expressed in Capan-1 cells (lane 3) is indicated by the arrow. p84 is a nuclear matrix protein (36 ...
Rad51BRCA1 or BRCA2OvarianHomologousPALB2InteractsBRCAEncodesCancersMutation carriersRecombinaseChromosomeHuman BRCA2PathwayPredisposeAntibodyCarriersInteractionNuclearChromosomal instabilityDefectsMRNARegulatesGeneticsLocalizerMutations in the BRCA2 GeneAminoLocalizationVariantsInstabilityFanconiTranscriptionalRecombinationExon 11Acts as a tumor suppressorFANCD2InteractionsRepair damagedGeneticPancreaticRecombinational RepairSusceptibility to breastGene mutationsFaulty BRCA2 geneGermline BRCA2 mutationsMutantBindsGenes produceGerm-lineFamilial breast cancerHereditary
Rad5171
- The central part of the protein contains multiple copies of a motif that binds the Rad51 recombinase (the BRC repeat), and the C terminus contains domains that have structural similarity to domains in the ssDNA-binding protein replication protein A (RPA). (pnas.org)
- Mutations that reduced ssDNA or Rad51 binding impaired the ability of the fusion proteins to function in HDR. (pnas.org)
- The high level of spontaneous chromosomal aberrations in Brca2 mutant cells was largely suppressed by the BRC-RPA fusion proteins, supporting the notion that the primary role of BRCA2 in maintaining genomic integrity is in HDR, specifically to deliver Rad51 to ssDNA. (pnas.org)
- The fusion proteins also restored Rad51 focus formation and cellular survival in response to DNA damaging agents. (pnas.org)
- Molecules called RAD51 form well-ordered filaments on the single stranded DNA tail, aided by BRCA2, and this long filament is then used to search for matching strands in the sister chromatin. (theconversation.com)
- This enabled us to use electron microscopy to image thousands of purified BRCA2 molecules or BRCA2-RAD51 complexes that could subsequently be analysed using computers and algorithms. (theconversation.com)
- This allowed us to determine and align differently oriented molecules to generate 3D structures of BRCA2 as well as its complex with RAD51. (theconversation.com)
- Our study reveals that BRCA2 proteins exist as pairs and a BRCA2 pair recruits two sets of RAD51 molecules. (theconversation.com)
- We also showed that BRCA2 increases the number of short RAD51 filaments on the DNA. (theconversation.com)
- The interaction between the breast cancer susceptibility protein BRCA2 and the RAD51 DNA recombinase is essential for DNA repair via homologous recombination. (bl.uk)
- Studies to define the biochemical and biological features of the BRCA2:RAD51 interaction are described. (bl.uk)
- Human BRCA2 features eight BRC repeat motifs encoded within exon 11 through which it can bind RAD51. (bl.uk)
- I defined the minimal structural determinants required for RAD51 binding by 'humanising' a primitive RAD51 from an Archaeon species lacking BRCA2. (bl.uk)
- Surface Plasmon Resonance (SPR) technology supported by cell biology was employed to study the characteristics of RAD51 binding to each of the BRC repeat motifs, both independently and collectively within the context of the BRCA2 protein. (bl.uk)
- An SPR competition assay was developed, revealing that the binding affinity of each BRC repeat motif for RAD51 differs significantly, and that their organisation within the scaffold of BRCA2 contributes to efficient interaction. (bl.uk)
- Thus, I propose that both the differential binding affinities of the individual BRC repeat motifs for RAD51, and their observed cooperativity, contribute to the control of RAD51 by BRCA2. (bl.uk)
- We show here that PALB2 physically and functionally connects BRCA1 and BRCA2 into a DNA damage response network that also includes the RAD51 recombinase. (aacrjournals.org)
- Analysis of the assembly of foci in these cells by BRCA1, PALB2, BRCA2, and RAD51 suggests that BRCA1 recruits PALB2, which in turn organizes BRCA2 and RAD51. (aacrjournals.org)
- BRCA2, in turn, regulates the recruitment of RAD51 to DNA damage foci and its assembly into nucleoprotein filaments that initiate HR through strand invasion ( 15 - 17 ). (aacrjournals.org)
- Importantly, numerous BRCA2-dependent functions require the capacity of PALB2 to interact with both BRCA1 and BRCA2, including the assembly of BRCA2 foci, the assembly of RAD51 foci, HR, and resistance to MMC. (aacrjournals.org)
- These results show that BRCA1, PALB2, BRCA2, and RAD51 function in a DNA damage response pathway that culminates in HR. Together, our results suggest that PALB2 serves as a physical and functional linker between BRCA1 and BRCA2. (aacrjournals.org)
- RAD51 and BRCA2 colocalization in nuclear foci is a hallmark of HRR. (asm.org)
- BRCA2 has important roles in RAD51 focus formation and HRR of DNA double-strand breaks (DSBs). (asm.org)
- We further show that chromatin-bound BRCA2 colocalizes with BCCIP nuclear foci and that most radiation-induced RAD51 foci colocalize with BCCIP. (asm.org)
- Reducing BCCIPα by 90% or BCCIPβ by 50% by RNA interference markedly reduces RAD51 and BRCA2 foci and reduces HRR of DSBs by 20- to 100-fold. (asm.org)
- Similarly, reducing BRCA2 by 50% reduces RAD51 and BCCIP foci. (asm.org)
- These data indicate that BCCIP is critical for BRCA2- and RAD51-dependent responses to DNA damage and HRR. (asm.org)
- BRCA2 has nine RAD51 binding regions, including eight BRC repeats encoded by exon 11 and a distinct RAD51 binding region encoded by exon 27 ( 8 , 33 , 69 ). (asm.org)
- Expression of individual BRC repeats interferes with RAD51 focus formation and HRR ( 5 , 53 , 70 ), indicating that RAD51-BRCA2 interactions are important for both processes. (asm.org)
- Although the interaction between BCCIPα and BRCA2 implicates BCCIP in RAD51-dependent processes, there is no prior direct support for this idea. (asm.org)
- BRCA2 protein regulates recombinational repair by interaction with RAD51 via a series of degenerate BRC repeat motifs encoded by exon 11 (BRCA2 996-2113 ), and an unrelated C‐terminal domain (BRCA2 3265-3330 ). (embopress.org)
- This interaction domain, defined as the PhePP motif, promotes specific interactions between BRCA2 and DMC1, but not with RAD51. (embopress.org)
- Thus, the RAD51 and DMC1 interaction domains on BRCA2 are distinct from each other, allowing coordinated interactions of the two recombinases with BRCA2 at meiosis. (embopress.org)
- These results lead us to suggest that BRCA2 is a universal regulator of RAD51/DMC1 recombinase actions. (embopress.org)
- It does so by regulating the actions of RAD51 protein. (embopress.org)
- The biological function of BRCA2 is, as yet, not well known, but several studies have shown that BRCA2 interacts with proteins like RAD51 and P/CAF, known to be involved in DNA damage response pathways and DNA transcription in cells. (beds.ac.uk)
- Acts by targeting RAD51 to ssDNA over double-stranded DNA, enabling RAD51 to displace replication protein-A (RPA) from ssDNA and stabilizing RAD51-ssDNA filaments by blocking ATP hydrolysis. (cusabio.com)
- Activated FANCD2 is translocated to DNA repair foci, where it colocalizes with other DNA damage response proteins, including BRCA2 and RAD51, and participates in homology-directed repair. (cdc.gov)
- Furthermore, direct binding of human RAD51 to each of the four single 30-amino acid BRC repeats located at the 5′ portion of exon 11 of BRCA2 was demonstrated. (pnas.org)
- Such an interaction is significant, as BRCA2 and RAD51 can be reciprocally coimmunoprecipitated by each of the individual, specific antibodies and form complexes in vivo . (pnas.org)
- Inferring from the function of RAD51 in DNA repair, human pancreatic cancer cells, Capan-1, expressing truncated BRCA2 were shown to be hypersensitive to methyl methanesulfonate (MMS) treatment. (pnas.org)
- These results suggest that the interaction between the BRC repeats of BRCA2 and RAD51 is critical for cellular response to DNA damage caused by MMS. (pnas.org)
- To address this question systematically, we have identified the cellular BRCA2 protein as a nuclear protein and determined the domain responsible for interactions with human RAD51. (pnas.org)
- The BRCA2 protein interacts with ssDNA and the RAD51 recombination protein, and is proposed to recruit RAD51 to the damage site for the HR repair. (beds.ac.uk)
- Recombinant BRCA2 fragments that cover the entire length of BRCA2 were tested for interaction with RAD51 and for their phosphorylation using cell free extracts. (beds.ac.uk)
- A cell line that stably expresses a C-terminal BRCA2 fragment was generated, to allow the analysis of RAD51 interactions and ability to promote homologous recombinational repair (HRR). (beds.ac.uk)
- We found that the C-terminal region of BRCA2, which directly interacts with RAD51, contains a site (S3291) that is phosphorylated by cyclin-dependent kinases. (beds.ac.uk)
- Phosphorylation of S3291 increases as cells progress towards mitosis, and was shown to block C-terminal interactions between BRCA2 and RAD51. (beds.ac.uk)
- HRR is defective in cells overexpressing the C-terminal fragment of BRCA2, indicating that interactions between RAD51 and the C-terminal region of endogenous BRCA2 are important for repair. (beds.ac.uk)
- In addition, these mutations exclude a COOH-terminal Rad51 binding domain that is involved in regulation of the DNA repair function of the protein. (aacrjournals.org)
- The enzyme encoded by this gene is a member of the RAD51 protein family which assists in repair of DNA double strand breaks . (wikipedia.org)
- In humans, RAD51 is a 339- amino acid protein that plays a major role in homologous recombination of DNA during double strand break repair. (wikipedia.org)
- Unlike other proteins involved in DNA metabolism, the RecA/Rad51 family forms a helical nucleoprotein filament on DNA. (wikipedia.org)
- In eukaryotes, RAD51 protein has a central role in homologous recombinational repair. (wikipedia.org)
- We have previously shown that a 28-amino acid peptide derived from the BRC4 motif of BRCA2 tumor suppressor inhibits selectively human RAD51 recombinase (HsRad51). (chalmers.se)
- The crystallographic analysis shows that the BRC-motif of the BRCA2 tumor suppressor is in contact with the subunit-subunit interface of Rad51 and could thus prevent filament formation of Rad51. (elsevier.com)
- The BRCA2 protein interacts with the RAD51 recombinase to regulate homologous recombination (HR). BRCA2 regulates the intracellular localization of RAD51. (atlasgeneticsoncology.org)
- CHEK1 and CHEK2 both phosphorylate the RAD51/BRCA2 complex and regulate the functional association of this complex in response to DNA damage. (atlasgeneticsoncology.org)
- A number of paralogs (see Figure) of RAD51 are essential for RAD51 protein recruitment or stabilization at damage sites in vertebrates. (wikipedia.org)
- Outside of plants and vertebrates, a much broader diversity of Rad51 recombinase paralog proteins exists. (wikipedia.org)
- The Shu complex, composed of a SWIM domain-containing protein and its interacting RAD51 paralogs, promotes HR by regulating RAD51 filament dynamics. (genetics.org)
- Although recent evidence supports at least Xrcc3 and Rad51C playing a role late in HR, our data suggest that Brca2 and the Rad51 paralogs may also contribute to HR at the same early step, with their loss resulting in the stimulation of an alternative, error-prone repair pathway. (asm.org)
- Scientists think the BRCA2 protein regulates the activity of a smaller number of companion proteins, including RAD51 and PALB2, to direct homologous recombination of damaged DNA. (howstuffworks.com)
- Further, PALB2 interacts with other essential effectors of HR, including RAD51 and RAD51C, as well as BRCA2. (atlasgeneticsoncology.org)
- Mechanistically, PALB2 is required for HR by mediating the recruitment of BRCA2 and the RAD51 recombinase to sites of DNA damage. (atlasgeneticsoncology.org)
- Similar to bi-allelic loss-of-function mutations of BRCA1, BRCA2, RAD51 and RAD51C, bi-allelic mutations in PALB2 cause Fanconi anemia (FA), a rare childhood disorder which is associated with progressive bone marrow failure, congenital anomalies, and a predisposition to leukemia and solid tumors. (atlasgeneticsoncology.org)
- In contrast, the role of BRCA2 in DNA repair may be more defined by its direct interaction with the RAD51 recombinase. (biomedcentral.com)
- BRCA2 nucleates RAD51 onto the 3′ DNA overhangs in order to stabilise the ssDNA and to promote its invasion of its complementary duplex (c). (els.net)
- FA proteins interact with several of the proteins involved in HR including H2AX, BRCA1, RAD51 and BLM. (els.net)
- According to a summary of these efforts in Nature News, the three studies explored the interaction of BRCA2 protein with other proteins, primarily one called RAD51. (healthcanal.com)
- By studying the interaction between BRCA2 and RAD51, all three teams confirmed that BRCA2 helps RAD51 initiate filament growth. (healthcanal.com)
BRCA1 or BRCA217
- The purpose of the study is to see if the drug KU 0059436 is effective and well tolerated in treating patients with measurable BRCA1- or BRCA2-positive advanced ovarian cancer and for whom no curative therapeutic option exists. (clinicaltrials.gov)
- We found no evidence for association between developing cancer or being a BRCA1 or BRCA2 mutation carrier and telomere length. (whiterose.ac.uk)
- They also approved a test to identify those patients eligible to receive talazoparib: patients with metastatic or locally advanced, HER2-negative breast cancer who have an inherited, cancer-associated BRCA1 or BRCA2 (BRCA1/2) mutation. (aacr.org)
- A Cancer Research UK funded team at The Institute of Cancer Research looked for faults in the PALB2 gene in 923 women with breast cancer and a family history of the disease, not caused by the known breast cancer genes BRCA1 or BRCA2. (cancerresearchuk.org)
- [11] [12] If BRCA1 or BRCA2 itself is damaged by a BRCA mutation , damaged DNA is not repaired properly, and this increases the risk for breast cancer . (wikipedia.org)
- The most common cause of hereditary breast cancer is an inherited mutation in the BRCA1 or BRCA2 gene. (cancer.org)
- On average, a woman with a BRCA1 or BRCA2 gene mutation has up to a 7 in 10 chance of getting breast cancer by age 80. (cancer.org)
- The average breast cancer risk for carriers of a germ-line mutation in BRCA1 or BRCA2 (penetrance) has been estimated from the multiple-case families collected by the Breast Cancer Linkage Consortium (BCLC) to be ≈80% to age 70. (aacrjournals.org)
- By extrapolation, ≈6% (95% CI, 2-20%) of breast cancer before age 40 may be caused by protein-truncating mutations in BRCA1 or BRCA2 . (aacrjournals.org)
- Breast cancer risk in BRCA1 or BRCA2 mutation carriers may be modified by other genetic or environmental factors. (aacrjournals.org)
- It is important to know the age-specific risk of breast cancer (penetrance) for women who have inherited a deleterious mutation in either of the recently discovered genes BRCA1 or BRCA2 . (aacrjournals.org)
- However, women now being tested for mutations in BRCA1 or BRCA2 , even if seen in a cancer family clinic, do not necessarily have the same intensity of family history as do those in the BCLC families. (aacrjournals.org)
- In total, up to 50% of HGSOC have homologous recombination defects related with loss of function of BRCA1 or BRCA2 or other homologous recombination (HR) pathway proteins ( 2 ). (frontiersin.org)
- However, we do know that cells deficient in BRCA1 or BRCA2 are exceedingly sensitive to certain therapeutic agents, such as the alkylating-like agents cisplatin and carboplatin, that induce double-stranded DNA breaks. (contemporaryobgyn.net)
- While these BRCA mutations clearly confer an increased risk of ovarian cancer, conventional wisdom held that because these defects also limited the DNA repair functions of ovarian cancer cells, patients with homozygous BRCA1 or BRCA2 mutations in their tumors would have improved responses to chemotherapeutic agents that further damaged DNA, such as cisplatin, because of the accumulation of a fatal level of new mutations (ie, lethal genetic instability). (contemporaryobgyn.net)
- Moreover, the recent identification of proteins that associate with either BRCA1 or BRCA2 indicates that the two BRCA proteins each participate in different protein complexes, and that these complexes may play quite distinct roles in DSB repair. (biomedcentral.com)
- Results from the genetic analysis suggest that patients with mutations in the BRCA1 or BRCA2 genes, which are two of the more common in herited genetic mutations that lead to Basal-like breast tumors, could benefit from two existing treatments for ovarian cancer. (ibtimes.com)
Ovarian38
- It is well established that faults in the BRCA2 gene (and the BRCA1 gene that prompted actress Angelina Jolie to undergo a mastectomy) increase the risk of breast, ovarian, prostate and other cancers. (theconversation.com)
- The risk of breast cancer with BRCA1 and BRCA2 is around 50-80% over a lifetime and around 10-40% for ovarian cancer. (theconversation.com)
- BRCA1 and BRCA2 are prominently associated with inherited breast and ovarian cancer. (aacrjournals.org)
- These results suggest that BRCA1 and BRCA2 cooperate in DNA damage responses in a PALB2-dependent manner, and have important implications for the genesis of breast/ovarian cancer and for chemotherapy with DNA interstrand cross-linking agents. (aacrjournals.org)
- BRCA1 and BRCA2 are the major genes associated with inherited susceptibility to breast and ovarian cancer ( 1 - 4 ). (aacrjournals.org)
- Germline mutations in the tumor-suppressor gene BRCA2 predispose to breast and ovarian cancer. (biologists.org)
- A person who inherits certain mutations (changes) in a BRCA2 gene has a higher risk of getting breast, ovarian, prostate, and other types of cancer. (news-medical.net)
- Many of the same BRCA2 gene mutations that increase the risk of breast cancer (described above) also increase the risk of ovarian cancer. (medlineplus.gov)
- Women with BRCA2 gene mutations have an approximately 12 to 25 percent chance of developing ovarian cancer in their lifetimes, as compared with 1.6 percent in the general population. (medlineplus.gov)
- In addition to breast cancer, BRCA2 mutations are also linked to other cancers including ovarian ( 4 , 5 ), hepatocellular ( 6 ), pancreatic ( 5 , 7 ), and prostate ( 4 - 6 ) tumors. (pnas.org)
- Individuals carrying a germ line mutation of the breast cancer susceptibility gene BRCA2 are predisposed to breast, ovarian, and other types of cancer. (nih.gov)
- Protein truncating mutations in BRCA2 predispose women to early-onset breast and ovarian cancer ( 1 , 2 ), and account for 15% to 30% of familial breast cancer. (aacrjournals.org)
- Defects in BRCA2 are a cause of susceptibility to breast-ovarian cancer familial type 2 (BROVCA2) [MIM:612555]. (abcam.com)
- High risk of breast and ovarian cancer is associated with germline BRCA2 mutations. (atlasgeneticsoncology.org)
- A woman's risk of developing breast or ovarian cancer is notably increased if she inherits a harmful mutation in either the BRCA1 gene or the BRCA2 gene from either parent. (eurekalert.org)
- Thirty-nine percent of women who inherit a harmful BRCA1 mutation and up to 17 percent of women who inherit a harmful BRCA2 mutation will develop ovarian cancer by age 70, compared to only 1.4 percent of women in the general population. (eurekalert.org)
- The same study reported that about 44 percent of women with a BRCA1 mutation and 17 percent of women with a BRCA2 mutation will receive an ovarian cancer diagnosis by age 80. (healthline.com)
- Mutation of BRCA1 and BRCA2 is the most common cause of inherited breast and ovarian cancer. (bmj.com)
- In the 1990s, pathogenic variants in BRCA1 and BRCA2 were found to be associated with hereditary breast and ovarian cancer (HBOC). (bmj.com)
- Around one in 100 people may carry a faulty BRCA2 gene, putting them at risk of developing breast, ovarian, prostate and pancreatic cancer. (cam.ac.uk)
- Inherited mutations in the tumour suppressor gene BRCA2 greatly increase the risk of developing breast, ovarian and other types of cancers. (hindawi.com)
- Hereditary prostate cancer (HPC) is a genetically heterogeneous disease, and attempts to identify genes that confer a high risk for prostate cancer, such as the BRCA1 and BRCA2 genes for breast and ovarian cancer, have been challenging ( 2 - 4 ). (aacrjournals.org)
- Moreover, families with carriers of BRCA2 mutations, in addition to having a higher risk of breast and ovarian cancers, also have an increased relative risk of prostate cancer (5- to 8-fold elevations) among men with protein truncating BRCA2 mutations ( 11 - 17 ). (aacrjournals.org)
- Families that met the criteria for BRCA2 screening had one of the following characteristics: families with multiple breast cancer cases (breast cancer cases are genetically related to prostate cancer cases) or an ovarian cancer case in a first-degree relative to a prostate cancer case ( n = 32), families with Jewish ancestry ( n = 16), or families with a pancreatic cancer case ( n = 8). (aacrjournals.org)
- There are two types of genes -- BRCA1 and BRCA2 -- which are responsible for both breast and ovarian cancer. (medindia.net)
- Specific inherited mutations in BRCA1 and BRCA2 most notably increase the risk of breast and ovarian cancer, but they have also been associated with increased risks of several additional types of the disease like fallopian tube cancer, peritoneal cancer, colorectal cancer and pancreatic cancer. (medindia.net)
- Women who have inherited mutations in BRCA1 and BRCA2 tend to develop breast and ovarian cancers at younger ages than those without these mutations. (medindia.net)
- Mutations in the BRCA1 and BRCA2 genes trigger excess cell growth and increase your risk for both breast and ovarian cancers. (healthline.com)
- The most significant risk factor for ovarian cancer is an inherited genetic mutation in one of two genes: breast cancer gene1 ( BRCA1 ) or breast cancer gene 2 ( BRCA2 ). (labcorp.com)
- BRCA2 is a tumor suppressor gene that is linked to hereditary breast and ovarian cancer. (asm.org)
- Individuals carrying germ line mutations of the BRCA2 gene have a high risk of developing breast and ovarian cancer ( 40 , 45 , 76 ). (asm.org)
- The introduction of PARPi in clinical practice for the treatment of patients with advanced ovarian cancer imposed changes in the molecular diagnosis of BRCA1 / BRCA2 variants. (frontiersin.org)
- Pathogenic germline variants in the breast cancer susceptibility genes BRCA1 and BRCA2 increase the risk for the development of ovarian cancer (OC) in carriers. (frontiersin.org)
- Women unselected for family history present germline BRCA1 / BRCA2 variants in 14% of the cases when having any epithelial OC and in ~17% of the cases with a high-grade serous ovarian cancer (HGSOC) diagnosis ( 2 , 3 ). (frontiersin.org)
- In addition, BRCA2 carriers clearly have a lower lifetime risk of ovarian and fallopian tube cancer than BRCA1 carriers, and ovarian cancer in BRCA2 carriers tends to occur later in life. (contemporaryobgyn.net)
- However, again there is a dearth of high quality studies comparing ovarian cancer survival in women with BRCA1 and BRCA2 mutations. (contemporaryobgyn.net)
- Women with mutations in the BRCA2 tumor suppressor gene have a greatly elevated risk of developing breast and ovarian cancers. (sciencemag.org)
- CHAPEL HILL, NC - Scientists at the University of North Carolina at Chapel Hill were among co-authors of a study that described the first isolation and purification of the BRCA2 protein which is produced by a gene whose loss greatly increases the risk of developing breast and ovarian cancers. (healthcanal.com)
Homologous19
- The BRCA2 tumor suppressor plays an important role in the repair of DNA damage by homologous recombination, also termed homology-directed repair (HDR). (pnas.org)
- The implications of this proposal for DNA repair via homologous recombination, and for the role of BRCA2 mutations in human carcinogenesis, are discussed. (bl.uk)
- Resistance to mitomycin C and the repair of DNA double-strand breaks by homologous recombination require the interaction of PALB2 with both BRCA1 and BRCA2. (aacrjournals.org)
- BRCA2 plays a well-established role in maintaining genome stability by regulating homologous recombination. (biologists.org)
- A meiosis-specific BRCA2 binding protein recruits recombinases to DNA double-strand breaks to ensure homologous recombination. (physiciansweekly.com)
- BRCA2 appears to play an important role in meiotic recombination in mammalian cells, as it is highly expressed during spermatogenesis in mice ( Connor et al , 1997 ), and localises to meiotic chromosomes during early prophase I when homologous chromosomes undergo pairing ( Chen et al , 1998a ). (embopress.org)
- The underlying basis of tumourigenesis is thought to be linked to defects in DNA double-strand break repair by homologous recombination (HR), as indicated by the spontaneous chromosomal instability phenotype of BRCA2 -defective cell lines. (beds.ac.uk)
- As an alternative, we developed functional assays that measure the influence of missense mutations on the ability of BRCA2 to repair DNA damage by homologous recombination and to control centriole amplification. (aacrjournals.org)
- These large and small insertions and deletions, nonsense mutations, and splicing variants in large part exclude the nuclear localization signals of BRCA2, mislocalize BRCA2 to the cytoplasm ( 3 ), and disrupt the homologous recombination (HR)-dependent DNA repair activity of BRCA2. (aacrjournals.org)
- DNA interstrand crosslinks are highly deleterious damages that are repaired by homologous recombination involving coordination of FA proteins and breast cancer susceptibility gene 1 (BRCA1), but the exact biochemical roles of these proteins is currently unclear. (wikipedia.org)
- BRCA2 localizes to meiotic chromosomes during early meiotic prophase I when homologous chromosomes undergo synapsis. (atlasgeneticsoncology.org)
- Here, it is demonstrated that untreated and cytarabine (AraC)-treated IGH/MYC-positive Burkitt lymphoma cells accumulate a high number of potentially lethal DNA double-strand breaks (DSB) and display low levels of the BRCA2 tumor suppressor protein, which is a key element of homologous recombination (HR)-mediated DSB repair. (aacrjournals.org)
- One function of these proteins is to repair damaged DNA through a process called homologous recombination. (aacr.org)
- Although the Brca2 protein participates in homologous DNA recombination (HR), its precise role remains unclear. (asm.org)
- These BRCA1 protein complexes likely affect several DNA repair processes, including homologous recombination (swapping a sequence of nucleotides with another similar strand of DNA), nucleotide-excision repair (cutting out damaged DNA bases and pasting in new ones) and non-homologous end-joining (stitching a double-strand break back together). (howstuffworks.com)
- PALB2 has a large number of interactions with other DNA damage response proteins that function in DNA repair by homologous recombination, as illustrated below and reviewed elsewhere (Park et al. (atlasgeneticsoncology.org)
- Deleterious variants in the BRCA1/BRCA2 genes and homologous recombination deficiency (HRD) status are considered strong predictors of response to poly (ADP-ribose) polymerase (PARP) inhibitors (PARPi). (frontiersin.org)
- Functionally, BRCA1 and BRCA2 are tumor-suppressor genes responsible for repair of double-stranded DNA breaks by homologous recombination, a generally error-free approach. (contemporaryobgyn.net)
- The BRCA1 and BRCA2 proteins are required for homologous recombination and DNA break repair, leading to the suggestion that they act in concert. (biomedcentral.com)
PALB222
- PALB2 interacts with BRCA2, and biallelic mutations in PALB2 (also known as FANCN), similar to biallelic BRCA2 mutations, cause Fanconi anemia. (nih.gov)
- PALB2 directly binds BRCA1, as determined with bacterially expressed fragments of each protein. (aacrjournals.org)
- Furthermore, PALB2 independently interacts with BRCA1 and BRCA2 through its NH 2 and COOH termini, respectively. (aacrjournals.org)
- We have reconstituted PALB2-deficient cells with PALB2Δ1-70, PALB2-L21P, or PALB2-L24P, or with COOH-terminally truncated PALB2 that is deficient for interaction with BRCA2. (aacrjournals.org)
- Using extracts from these cells, we find that PALB2 mediates the physical interaction of BRCA2 with a COOH-terminal fragment of BRCA1. (aacrjournals.org)
- PALB2 (partner and localizer of BRCA2) is also a breast cancer susceptibility gene ( 11 - 13 ) and was first identified by its interaction with BRCA2 protein ( 14 ). (aacrjournals.org)
- PALB2 is required for the localization of BRCA2 to sites of DNA damage ( 14 ). (aacrjournals.org)
- Because PALB2 localizes BRCA2 to DNA damage foci ( 14 ), we sought to determine how PALB2 itself is recruited to sites of DNA damage. (aacrjournals.org)
- PALB2 and BRCA1 coimmunoprecipitated from extracts of MCF7 mammary adenocarcinoma cells, HeLa, and 293T cells using antibodies against either protein. (aacrjournals.org)
- BRIP1 , BRCA2 and PALB2 are both Fanconi anemia genes and breast cancer susceptibility genes, and they encode proteins functioning downstream of FANCD2. (cdc.gov)
- This protein can interact with the ssDNA-binding protein RPA , BRCA2 , PALB2 [10] and RAD52 . (wikipedia.org)
- Há também o domínio chamado Coiled Coil em BRCA1, por meio do qual este interage com BRCA2 por intermédio da proteínas PALB2 (partner and localizer of BRCA2) durante o reparo por recombinação homólogo. (wikipedia.org)
- Our data suggest the breast-cancer risk for PALB2 mutation carriers may overlap with that for BRCA2 mutation carriers. (ugent.be)
- Biallelic mutations in PALB2, which encodes a BRCA2 interacting protein, cause Fanconi anaemia subtype FA-N and predispose to childhood cancer. (cancerresearchuk.org)
- 2011). Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer. (springer.com)
- PALB2 (Partner and Localizer of BRCA2) was first identified as a BRCA2-interacting protein. (atlasgeneticsoncology.org)
- Consistent with its function in HR and its interaction with key HR proteins, PALB2-deficient cells are hypersensitive to ionizing radiation and DNA interstrand crosslinking agents such as mitomycin C and cisplatin. (atlasgeneticsoncology.org)
- Due to their close functional relationship, bi-allelic mutations of PALB2 and BRCA2 cause particularly severe forms of FA, called FANCN and FANCD1, both characterized by severe congenital abnormalities and very early onset of various cancers. (atlasgeneticsoncology.org)
- The PALB2 protein was identified as a BRCA2-interacting protein using mass spectrometry. (atlasgeneticsoncology.org)
- In this way, PALB2 functions in a large network of HR proteins and seems to have a key role in coordinating their function (Park et al. (atlasgeneticsoncology.org)
- 2015). Importantly, direct interactions of the N- and C-termini of PALB2 with BRCA1 and BRCA2, respectively, physically links these tumor suppressor proteins (Sy et al. (atlasgeneticsoncology.org)
- The encoded proteins can be subdivided within the FA pathway into three groups: proteins that make up the core complex, the FANCD2 and FANCI proteins which compose the ID complex and five downstream effector proteins: FANCD1/BRCA2, FANCJ/BRIP1/BACH1, FANCN/PALB2, FANCO/RAD51C and FANCP/SLX4. (els.net)
Interacts12
- These pictures, published in Nature Structural and Molecular Biology, not only reveal its structure and how it interacts with other proteins and DNA but will help in further understanding its role in DNA repair and cancer risk . (theconversation.com)
- We previously reported that BCCIPα interacts with BRCA2. (asm.org)
- We show that a second isoform, BCCIPβ, also interacts with BRCA2 and that this interaction occurs in a region shared by BCCIPα and BCCIPβ. (asm.org)
- Preliminary data indicate that BRCA2 interacts with Stat proteins upon ligand stimulation. (beds.ac.uk)
- Interacts with the transactivation domain of BRCA2 (PubMed:14651845). (rcsb.org)
- In the nucleus of many types of normal cells, the BRCA2 protein interacts with several other proteins to mend breaks in DNA. (medlineplus.gov)
- BRCA2 is ubiquitinated in vivo and interacts with USP11, a deubiquitinating enzyme that exhibits prosurvival function in the cellular response to D. (nih.gov)
- BRCA2 specifically interacts with USP11. (nih.gov)
- Moreover, BRCA2 interacts with the meiosis-specific recombinase DMC1 , thus implicating BRCA2 in meiotic recombination. (atlasgeneticsoncology.org)
- This gene encodes a centrosomal protein that interacts with BRCA2, and is required for centriole duplication and cytokinesis. (genecards.org)
- [16] The BRCA1 protein associates with RNA polymerase II , and through the C-terminal domain, also interacts with histone deacetylase complexes. (wikipedia.org)
- This RING domain interacts with associated proteins, including BARD1 , which also contains a RING motif, to form a heterodimer. (wikipedia.org)
BRCA7
- Quest Diagnostics, the world's leading provider of diagnostic information services, and Inserm, the French National Institute of Health and Medical Research institution, today launched BRCA Share, a novel datashare initiative they co-founded to provide scientists and laboratory organizations around the world with open access to BRCA1 and BRCA2 genetic data. (news-medical.net)
- We have recently described an involvement of H2AX into the Fanconi anemia (FA) BRCA pathway through recruitment of FA protein FANCD2 to the sites of stalled replication forks. (biomedsearch.com)
- The BRCA gene encodes for the BRCA proteins, BRCA1 and BRCA2. (news-medical.net)
- BRCA gene mutations may cause the body to build or fold these proteins incorrectly. (healthline.com)
- Amongst all the six isolated compounds tested, 1-(2-hydroxyphenyl)-4-methylpentan-1-one (compound 1 ) and 2-[(3-methylbutoxy) carbonyl] benzoic acid (compound 2 ) were found to be more active in inhibiting BRCA and COX target proteins, which also showed the better results for DPPH and ABTS radical scavenging assays. (hindawi.com)
- These agents block the actions of PARP proteins, which, like BRCA proteins, help repair DNA damage in cells. (cancer.gov)
- Blocking PARP proteins in breast cancer cells that already have a defect in DNA repair-because of BRCA mutations-may lead to further DNA damage and cell death. (cancer.gov)
Encodes6
- This gene encodes a subunit of the BRCA1-BRCA2-containing complex (BRCC), which is an E3 ubiquitin ligase. (creativebiomart.net)
- BRCA2 encodes a protein of 3418 amino acids with a molecular weight of 384 kDa. (beds.ac.uk)
- The analysis of its sequence predicts that the gene encodes a protein with 3,418 amino acids but provides very few clues pointing to its biological function. (pnas.org)
- The BRCA2 gene encodes a 11386 bp mRNA transcript. (atlasgeneticsoncology.org)
- BRCA2 exon 11 encodes eight conserved motifs termed BRC repeats. (atlasgeneticsoncology.org)
- This was found to correspond to gene locus 79728 (LOC79728), which encodes putative protein FLJ21816 (Xia et al. (atlasgeneticsoncology.org)
Cancers13
- Thus, cytokinesis defects are unlikely to contribute to chromosomal instability and tumorigenesis in BRCA2 -related cancers. (biologists.org)
- Germline mutations in BRCA2 predispose to hereditary breast cancers. (embopress.org)
- Olaparib, an experimental twice-daily oral cancer drug, produces an overall tumor response rate of 26 percent in several advanced cancers associated with BRCA1 and BRCA2 mutations, according to new research co-led by the Abramson Cancer Center of the University of Pennsylvania. (news-medical.net)
- Germ-line changes in the cancer-predisposition gene BRCA2 are found in a small proportion of breast cancers. (nih.gov)
- The necessity for earlier genetic alterations before biallelic inactivation of a recessive tumor susceptibility gene such as BRCA2 may explain why affected carriers have normal numbers of neoplastic precursor lesions, a relatively low phenotypic penetrance, and late age of onset of pancreatic and other cancers. (nih.gov)
- It is not clear why different individuals with BRCA2 mutations develop cancers in different organs. (medlineplus.gov)
- Germ-line mutations in BRCA2 account for the same percentage of familial breast cancers as BRCA1 ( 1 ). (pnas.org)
- Inherited mutations in BRCA2 are associated with a predisposition to early-onset breast cancers. (beds.ac.uk)
- Increased risk of several other cancers are associated with BRCA2 mutations, especially for prostate and pancreatic cancer. (atlasgeneticsoncology.org)
- 1 2 Among genes associated with HBOC, BRCA1 and BRCA2 confer the highest lifetime risks of these cancers and are the most frequently mutated genes in women with HBOC. (bmj.com)
- 3-6 Other cancers also show elevated incidence of mutations in BRCA1 (melanoma and testicular) and BRCA2 (male breast cancer, prostate cancer and pancreatic cancer). (bmj.com)
- BRCA1/BRCA2-deficient cancers are recognized as the main responders to a class of drugs known as poly (ADP-ribose) polymerase (PARP) inhibitors (PARPi) ( 4 , 5 ). (frontiersin.org)
- The antibody component of T-DM1 is called trastuzumab, which works by binding to and inactivating HER2, a protein that is overproduced on the surface of cancer cells in about one-quarter of breast cancers. (mskcc.org)
Mutation carriers4
- This study aimed to determine whether telomere length (TL) is a marker of cancer risk or genetic status amongst two cohorts of BRCA1 and BRCA2 mutation carriers and controls. (whiterose.ac.uk)
- 95% CI 0.9-4.1) for BRCA2 mutation carriers but not for BRCA1 mutation carriers. (aacrjournals.org)
- In addition, BRCA2 mutation carriers had an OR of 3.2 (95% CI, 1.4-7.3) of high Gleason score, but no increased risk was observed for lower grade cancer. (aacrjournals.org)
- We demonstrate that unmodified primary human fibroblasts derived from heterozygous BRCA2 mutation carriers show significantly prolonged cytokinesis. (hindawi.com)
Recombinase2
- Recombinase recruited to the DSBs by the mediator protein BRCA2 catalyzes the homology-directed repair. (physiciansweekly.com)
- Here, we show that human BRCA2 binds the meiosis‐specific recombinase DMC1 and define the primary DMC1 interaction site to a 26 amino‐acid region (BRCA2 2386-2411 ). (embopress.org)
Chromosome8
- BRCA2-deficient cells exhibit alterations in chromosome number (aneuploidy), as well as structurally aberrant chromosomes. (sciencemag.org)
- We have used time-lapse microscopy, recently developed cytokinesis assays and BAC recombineering (bacterial artificial chromosome recombinogenic engineering to investigate the function and localization of BRCA2 during cell division. (biologists.org)
- Suzuki et al , 1997 ), an analysis of the role of BRCA2 in meiosis has been made possible through the generation of a viable Brca2 null mouse carrying a bacterial artificial chromosome containing the human BRCA2 gene ( Sharan et al , 2004 ). (embopress.org)
- BRCA2 is a gene on chromosome 13 that normally helps to suppress cell growth. (news-medical.net)
- Our findings further define the intricate interface between FANC and HRR proteins in maintaining chromosome stability. (elsevier.com)
- BRCA2 was identified ( 1 , 2 ) based on its initial mapping to chromosome 13q12-13 by linkage analysis of families with inherited breast cancer not attributed to mutations in BRCA1 ( 3 ). (pnas.org)
- The first number indicates the chromosome, which means BRCA1 can be found on chromosome 17, BRCA2 on chromosome 13. (howstuffworks.com)
- 3 The discovery of the BRCA2 gene on chromosome 13q12-13 soon followed, employing similar techniques. (contemporaryobgyn.net)
Human BRCA25
- Human BRCA2 is 3,418 aa and is composed of several domains. (pnas.org)
- These mice, which exhibit low levels of expression of human BRCA2 protein in the gonads, are infertile because spermatocytes fail to progress beyond the early prophase I stage of meiosis. (embopress.org)
- Synthetic peptide mapping to the N terminus of human BRCA2. (abcam.com)
- We systematically evaluated a large panel of human BRCA2 variants for the production of alternative transcripts and assessed their capacity to exert BRCA2 protein functionality. (nature.com)
- Human BRCA2 protein is composed of 3418 amino acids (384 kDa). (atlasgeneticsoncology.org)
Pathway12
- Also, other proteins which involved in the same pathway with BRCC3 were listed below. (creativebiomart.net)
- All of these results imply that BRCA2 expression levels are regulated by ubiquitination in the cellular response to MMC-induced DNA damage and that USP11 participates in DNA damage repair functions within the BRCA2 pathway independently of BRCA2 deubiquitination. (nih.gov)
- The FA proteins interact through a multiprotein pathway. (wikipedia.org)
- Here, we discuss a model for the FA pathway and how it could partially explain the common phenotypes of H2AX, BRCA2 and FA deficiencies. (biomedsearch.com)
- Within the FA pathway, the multi-FA protein complex can act as an E3 ubiquitin ligase to monoubiquitinate FANCD2 and its paralog FANCI, and the monoubiquitinated FA proteins then function in concert with other known or unknown proteins to repair DNA damage and maintain chromosomal stability [3] , [8] . (plos.org)
- However, it still remains unknown as to how the FA signaling pathway or FANCD2 protein functions. (plos.org)
- It has also shown that PARP proteins are important components of this DNA repair pathway and that blocking PARP protein function can cause cells with cancer-associated BRCA1/2 mutations to die. (aacr.org)
- Background The present study was designed to test the hypothesis that inactivation of virtually any component within the pathway containing the BRCA1 and BRCA2 proteins would increase the risks for lymphomas and leukemias. (nottingham.ac.uk)
- Although the exact mechanisms and functions of the FA pathway are yet to be discovered, the interaction of the members of the FA pathway with proteins associated with DNA repair, cellular signalling and oxidative stress management leads to the hypothesis that the FA pathway proteins serve many varied functions throughout the cell. (els.net)
- FA pathway proteins are involved in the intricate cellular signalling that occurs following DNA damage. (els.net)
- FA pathway proteins are involved in regulating oxidative stress. (els.net)
- The FA pathway proteins: The FA pathway is composed of at least 13 genes. (els.net)
Predispose2
- Germ-line mutations inactivating BRCA2 predispose to cancer. (sciencemag.org)
- This study postulates that IGH/MYC-induced BRCA2 deficiency may predispose Burkitt lymphoma cells to synthetic lethality triggered by PARP1 inhibitors. (aacrjournals.org)
Antibody3
- An antibody that specifically recognises BRCA2 phosphorylated at serine 3291 was generated and used to analyse the phosphorylation status of endogenous BRCA2 during the cell cycle and after DNA damaging treatment. (beds.ac.uk)
- This antibody recognizes the BRCA2 gene product, a 390-kDa nuclear protein. (novusbio.com)
- To investigate the localization of the BRCA2 protein during cytokinesis, immunofluorescence staining using antibody directed against BRCA2 was carried out. (hindawi.com)
Carriers5
- The strong correlation between the functional assays and likelihood model data suggests that these functional assays are an excellent method for identifying inactivating missense mutations in the BRCA2 DBD and that the assays may be a useful addition to models that predict the likelihood of cancer in carriers of missense mutations. (aacrjournals.org)
- Predicted loss-of-function (LoF) variants in BRCA1 and BRCA2 , such as nonsense variants, frame-shifting indels, and variants at the canonical splice sites, are considered to be associated with high cancer risk and carriers and their family members are managed accordingly. (nature.com)
- Carriers of a BRCA2 variation specific to Iceland are more likely to develop aggressive and lethal prostate cancer than noncarriers, according to researchers working with the Icelandic Cancer Registry. (genengnews.com)
- Several epidemiologic studies have reported that carriers of germline mutations in the BRCA2 gene have an increased risk of prostate cancer, with the highest risk observed in men diagnosed at earlier ages. (aacrjournals.org)
- The cumulative OC risk at age 80 years is 44 and 17% for BRCA1 and BRCA2 variant carriers, respectively ( 1 ). (frontiersin.org)
Interaction7
- Although it has been reported that BRCA1 and BRCA2 coimmunopurify ( 8 - 10 ), the interaction may be indirect and may involve only a small proportion of either protein ( 6 , 7 ). (aacrjournals.org)
- In an effort to elucidate the cellular function of BRCA2, we have studied the interaction between BRCA2 and other cellular proteins in mammary epithelial cells. (beds.ac.uk)
- FANCD2, like FANCD1/BRCA2, is not part of the core complex, and we previously showed direct BRCA2-FANCD2 interaction using yeast two-hybrid analysis. (elsevier.com)
- We also show that phosphorylation of FANCG serine 7 is required for its co-precipitation with BRCA2, XRCC3 and FANCD2, as well as the direct interaction of BRCA2-FANCD2. (elsevier.com)
- Its interaction with BRCA2 suggests that it may play a central role in the DNA repair function of BRCA2 (PubMed:14651845). (rcsb.org)
- This gene product was isolated on the basis of its interaction with BRCA2 and p21 proteins. (wikipedia.org)
- We discuss the interaction of BRCA1 with the BACH1 and BARD1 proteins, and suggest that the pleiotropic nature of mutations in BRCA1 may be associated with defects in protein-protein interactions. (biomedcentral.com)
Nuclear8
- Eight of the FA proteins, including FANCG, participate in a nuclear core complex that is required for the monoubiquitylation of FANCD2 and FANCI. (elsevier.com)
- In an attempt to address this question, specific antibodies were prepared that identified the gene product of BRCA2 as a 390-kDa nuclear protein. (pnas.org)
- A nuclear complex containing FANCG (as well as FANCA, FANCB, FANCC, FANCE, FANCF, FANCL and FANCM) is essential for the activation of the FANCD2 protein to the mono-ubiquitinated isoform. (wikipedia.org)
- Two nuclear localization signals (NLS) have been identified in the C-terminal region of BRCA2. (atlasgeneticsoncology.org)
- BRCA2 is a nuclear protein. (atlasgeneticsoncology.org)
- It is an evolutionarily conserved nuclear protein with multiple interacting domains. (wikipedia.org)
- This protein also contains nuclear localization signal s and nuclear export signal motifs. (wikipedia.org)
- Within chromatin, FANCD2 and FANCI colocalise with DNA repair proteins including the downstream effector, FA proteins, at sites of DNA damage in nuclear foci. (els.net)
Chromosomal instability1
- Our findings thus link cytokinetic abnormalities to a hereditary cancer syndrome characterized by chromosomal instability and may help to explain why BRCA2-deficient tumors are frequently aneuploid. (sciencemag.org)
Defects8
- Because as little as 2% of BRCA2 fused to RPA is sufficient to suppress cellular defects found in Brca2 -mutant mammalian cells, these results provide insight into the recently discovered diversity of BRCA2 domain structures in different organisms. (pnas.org)
- But if there are mutations in BRCA2 this can cause defects in this repair process, making the repair inefficient or forcing cells to use alternative repair methods that are prone to mistakes, all of which contribute to mutations in the genomic DNA and so increase the risk of cancer developing. (theconversation.com)
- If we could understand how intact BRCA2 protein repairs DNA, and the nature of the mutations, we could then develop methods to correct the defects in BRCA2 to ensure repair is carried out properly. (theconversation.com)
- A role for BRCA2 in meiotic recombination has also been demonstrated in Arabidopsis thaliana where siRNA against BRCA2 leads to meiotic defects and partial sterility ( Siaud et al , 2004 ). (embopress.org)
- Defects in BRCA2 are a cause of susceptibility to breast cancer (BC) [MIM:114480]. (abcam.com)
- Defects in BRCA2 are the cause of pancreatic cancer type 2 (PNCA2) [MIM:613347]. (abcam.com)
- Of 10 variants with odds in favor of causality in the likelihood model of 50:1 or more and a posterior probability of pathogenicity of 0.99, eight inactivated BRCA2 function and the other two caused splicing defects. (aacrjournals.org)
- Without their associated proteins, several DNA repair processes would cease to function and, over time, as cells were exposed to radiation or chemical agents , more and more defects would accumulate. (howstuffworks.com)
MRNA10
- BRCA2 has 27 exons and expresses an mRNA 11 kb in size ( 1 ). (pnas.org)
- The expression pattern of BRCA2 mRNA is similar to that of BRCA1 , with highest levels in the testis, thymus, and ovaries ( 10 ). (pnas.org)
- During mouse development, Brca2 mRNA is first detected on embryonic day 7.5, a time of rapid proliferation ( 11 ). (pnas.org)
- At the cellular level, expression is regulated in a cell cycle-dependent manner with peak expression of BRCA2 mRNA in S phase ( 12 ). (pnas.org)
- Adriamycin and other DNA-damaging agents have been shown to reduce BRCA2 mRNA levels in breast cancer cell lines, but the mechanism by which this occurs is unknown. (elsevier.com)
- In addition, we present evidence indicating that adriamycin and other DNA-damaging agents reduce BRCA2 mRNA and protein levels by altering both BRCA2 mRNA stability and protein stability. (elsevier.com)
- Wu, K, Jiang, SW & Couch, FJ 2003, ' p53 mediates repression of the BRCA2 promoter and down-regulation of BRCA2 mRNA and protein levels in response to DNA damage ', Journal of Biological Chemistry , vol. 278, no. 18, pp. 15652-15660. (elsevier.com)
- For many BRCA1 and BRCA2 variants (both intronic and exonic) an effect on mRNA splicing has been reported using either patient RNA or minigene analysis. (nature.com)
- BRCA2 mRNA expression levels in BRCA2 +/− and BRCA2 +/+ cells were quantified with quantitative real-time polymerase chain reaction (qRT-PCR). (hindawi.com)
- Lower BRCA2 mRNA expression levels were observed in the BRCA2 heterozygous samples compared with the BRCA2 wild type samples. (hindawi.com)
Regulates1
- MEILB2 directly binds to BRCA2 and regulates its association to meiotic DSBs. (physiciansweekly.com)
Genetics2
- BRCA1 and BRCA2 - update and implications on the genetics of breast cancer: a clinical perspective. (medlineplus.gov)
- Methods to test for the likelihood of a patient with mutations in BRCA1 and BRCA2 developing cancer were covered by patents owned or controlled by Myriad Genetics . (wikipedia.org)
Localizer1
- Here we identify a meiotic localizer of BRCA2, MEILB2/HSF2BP, that localizes to the site of meiotic DSBs in mice. (physiciansweekly.com)
Mutations in the BRCA2 Gene5
- Mutations in the BRCA2 gene have been studied mainly in families with high risk of breast cancer in females, and male breast cancer also has been associated with BRCA2 mutations. (nih.gov)
- Mutations in the BRCA2 gene are associated with an increased risk of breast cancer in both men and women, as well as several other types of cancer. (medlineplus.gov)
- Inherited mutations in the BRCA2 gene also increase the risk of several other types of cancer, including pancreatic cancer and an aggressive form of skin cancer called melanoma. (medlineplus.gov)
- Results indicate that protein-truncating mutations in the BRCA2 gene increase susceptibility to high-grade prostate cancer. (aacrjournals.org)
- 60 years), and that mutations in the BRCA2 gene may be important in prostate cancer susceptibility. (aacrjournals.org)
Amino3
- With 3,418 amino acids as building blocks, BRCA2 is one of the largest proteins in the cell - and one of the most difficult. (theconversation.com)
- The putative 622-amino acid protein has a leucine-zipper motif at its N-terminus. (wikipedia.org)
- The protein may be abnormally short or may not have the correct sequence of amino acids. (howstuffworks.com)
Localization3
- We conclude that localization of BRCA2 to meiotic DSBs is mediated by MEILB2, which is an integral mechanism to repair abundant meiotic DSBs. (physiciansweekly.com)
- The BRCA2 protein localizes and accumulates to the midbody during cytokinesis, and no difference was detected in distribution and localization of the protein between BRCA2 +/− and BRCA2 +/+ samples or cells with delayed cytokinesis and normal division time. (hindawi.com)
- The delayed cytokinesis phenotype of the BRCA2 heterozygous cells and localization of the BRCA2 protein to the midbody confirms that BRCA2 plays a role in cytokinesis. (hindawi.com)
Variants14
- Protein-truncating variants in moderate-risk breast cancer susceptibility genes: a meta-analysis of high-risk case-control screening studies. (semanticscholar.org)
- In contrast, the influence of many missense mutations, intronic variants, and in-frame deletions and insertions in the BRCA2 gene, also called variants of uncertain significance (VUS) or unclassified variants, has not been determined. (aacrjournals.org)
- Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. (wikipedia.org)
- Current interpretation guidelines for germline variants in high-risk cancer susceptibility genes consider predicted loss-of-function (LoF) variants, such as nonsense variants and variants in the canonical splice site sequences of BRCA2 , to be associated with high cancer risk. (nature.com)
- The ACMG/AMP guidelines pose that the Pathogenic Very Strong (PVS1) code for predicted loss-of-function variants (nonsense, frameshift, canonical ±1 or 2 splice sites, initiation codon, single or multiexon deletion) may no longer be valid if a variant induces an in-frame deletion or insertion that leaves the functional domains of the protein intact. (nature.com)
- Progress in implementing functional assays to assess missense variants of BRCA1 and BRCA2 is considered here, along with current limitations and the path to more impactful assay systems. (bmj.com)
- While functional assays have been developed to independently evaluate BRCA1 and BRCA2 VUS, high-throughput assays with sufficient sensitivity to characterise the large number of identified variants are lacking. (bmj.com)
- Additionally, because of relatively low conservation of certain domains of BRCA1, and of BRCA2, between humans and rodents, heterologous expression in rodent cells may have limited reliability or capacity to assess variants present throughout either protein. (bmj.com)
- Genetic testing for pathogenic variants in BRCA1 , BRCA2 and other cancer susceptibility genes is recommended for individuals with a strong family and/or personal history of HBOC (see figure 1 ), since risk preventative strategies improve outcomes. (bmj.com)
- Inherited variants in particular genes, such as BRCA1 , BRCA2 , and HOXB13 , account for some cases of hereditary prostate cancer. (medlineplus.gov)
- In addition, men with BRCA2 or HOXB13 gene variants may have a higher risk of developing life-threatening forms of prostate cancer. (medlineplus.gov)
- The BRCA1/BRCA2 panel demonstrates extremely high specificity and unmatched coverage uniformity across a wide range of DNA inputs, allowing highly sensitive calling of germline and somatic variants while maximizing sequencer efficiency. (neb.com)
- BRCA1 / BRCA2 tumor testing by next-generation sequencing (NGS) can detect simultaneously both somatic and germline variants, allowing the identification of more patients with higher likelihood of benefiting from PARPi. (frontiersin.org)
- Our main goal was to determine the frequency of somatic and germline BRCA1 / BRCA2 variants in a series of non-mucinous OC, and to define the best strategy to be implemented in a routine diagnostic setting for the screening of germline/somatic variants in these genes, including the BRCA2 c.156_157insAlu Portuguese founder variant. (frontiersin.org)
Instability3
- A class of environmental and endogenous toxins induces BRCA2 haploinsufficiency and genome instability. (cam.ac.uk)
- The Brca2 protein acts as a tumor suppressor, and its loss results in genome instability ( 1 , 30 , 35 ). (asm.org)
- However, interpretation of their phenotype may be hampered by additional mutations acquired during the derivation of the line as a result of the genomic instability imposed by impaired Brca2 function. (asm.org)
Fanconi3
- The Fanconi anemia core complex consists of eight Fanconi anemia proteins (FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL and FANCM) and is essential for the monoubiquitination and activation of FANCD2 ('D2' in the figure) after DNA damage. (cdc.gov)
- Shaded proteins are encoded by genes that cause Fanconi anemia. (cdc.gov)
- Fanconi anemia group G protein is a protein that in humans is encoded by the FANCG gene. (wikipedia.org)
Transcriptional5
- The N-terminal part of the BRCA2 protein contains a transcriptional activation domain (aa 18-105). (atlasgeneticsoncology.org)
- This function of BRCA2 is regulated by the binding of the EMSY protein to the region of BRCA2 responsible for transcriptional activation. (atlasgeneticsoncology.org)
- An excess of EMSY results in silencing of BRCA2-driven transcriptional activation. (atlasgeneticsoncology.org)
- EMSY (EMSY, BRCA2 Interacting Transcriptional Repressor) is a Protein Coding gene. (genecards.org)
- Thus, this protein plays a role in transcription, and DNA repair of double-strand DNA breaks [14] ubiquitination , transcriptional regulation as well as other functions. (wikipedia.org)
Recombination3
- BRCA2 is also required for meiotic recombination. (embopress.org)
- Activated FANCD2 protein may function prior to the initiation of meiotic recombination, perhaps to prepare chromosomes for synapsis, or to regulate subsequent recombination events. (wikipedia.org)
- The BRCA2 protein has been implicated in DNA repair and recombination, but the full spectrum of its cellular activities is still unclear. (sciencemag.org)
Exon 111
- Using a gene knockout method to create mice with BRCA2 mutations, homozygous mutant mice with BRCA2 truncated from the 5′ half of exon 11 cannot survive embryogenesis (refs. (pnas.org)
Acts as a tumor suppressor1
- The BRCA2 gene provides instructions for making a protein that acts as a tumor suppressor. (medlineplus.gov)
FANCD23
- We now show in human and hamster cells that expression of FANCG protein, but not the other core complex proteins, is required for co-precipitation of BRCA2 and FANCD2. (elsevier.com)
- These results argue that FANCG has a role independent of the FA core complex, and we propose that phosphorylation of serine 7 is the signalling event required for forming a discrete complex comprising FANCD1/BRCA2-FANCD2-FANCG-XRCC3 (D1-D2-G-X3). (elsevier.com)
- Activated FANCD2 protein co-localizes with BRCA1 (breast cancer susceptibility protein) at ionizing radiation-induced foci and in synaptonemal complexes of meiotic chromosomes (see Figure: Recombinational repair of double strand damage). (wikipedia.org)
Interactions5
- Cells that fail to express either phospho-Ser7-FANCG, or full length BRCA2 protein, lack the interactions amongst the four component proteins. (elsevier.com)
- Above) The encoded protein is shown in blue with key domains and/or motifs that mediate interactions shown in black. (atlasgeneticsoncology.org)
- In many cases, however, the specificity and significance of these protein/protein interactions may require further investigation. (biomedcentral.com)
- Interactions of BRCA1 and BRCA2 with other proteins, or protein complexes. (biomedcentral.com)
- This hypothesis has been supported by work elucidating the interactions of FA proteins with proteins known to be involved in DNA‐damage sensing, signalling and repair. (els.net)
Repair damaged8
- Scientists have taken pictures of the BRCA2 protein for the first time, showing how it works to repair damaged DNA. (news-medical.net)
- As a result, less of this protein is available to help repair damaged DNA or fix mutations that occur in other genes. (medlineplus.gov)
- These mutations impair the ability of the BRCA2 protein to help repair damaged DNA. (medlineplus.gov)
- BRCA1 and BRCA2 are unrelated proteins, [10] but both are normally expressed in the cells of breast and other tissue, where they help repair damaged DNA , or destroy cells if DNA cannot be repaired. (wikipedia.org)
- In normal cells, these genes help make proteins that repair damaged DNA. (cancer.org)
- BRCA1 and BRCA2 are human genes that produce tumor suppressor proteins which help repair damaged DNA. (eurekalert.org)
- BRCA1 and BRCA2 genes create tumor-suppressing proteins and help repair damaged DNA. (self.com)
- The BRCA1 and BRCA2 genes produce tumor suppressor proteins that help repair damaged DNA in cells. (cancer.gov)
Genetic9
- New research confirms a vulnerability to lung cancer can be inherited and implicates the BRCA2 gene as harboring one of the involved genetic mutations. (news-medical.net)
- By helping to repair DNA, the BRCA2 protein plays a critical role in maintaining the stability of a cell's genetic information. (medlineplus.gov)
- Real capacity of BRCA1/BRCA2 is to control the cell division, repair the damaged DNA and stabilized the genetic material of the cell. (who.int)
- BRCA2 germline mutation in ESCC patients may play a role in genetic susceptibility to familial ESCC. (medscimonit.com)
- Genetic analysis of BRCA2 in patients with familial ESCC could provide opportunities for targeted therapies. (medscimonit.com)
- To further address this issue, 266 subjects from 194 HPC families participating in the Seattle-based Prostate Cancer Genetic Research Study were screened for BRCA2 mutations by sequencing the coding regions, intron-exon boundaries, and suspected regulatory elements of this gene. (aacrjournals.org)
- The proteins produced from the BRCA1 and BRCA2 genes are involved in fixing damaged DNA, which helps to maintain the stability of a cell's genetic information. (medlineplus.gov)
- Of these, about 10-15 percent are estimated to be affected by BRCA1 and BRCA2 genetic mutations, Dr. Ross said. (eurekalert.org)
- Genetic studies conducted in BRCA1 - and BRCA2 -defective cell lines [ 7 , 9 , 10 ] have further revealed that these tumour suppressor genes are required for maintenance of genome integrity and for normal levels of resistance to DNA damage. (biomedcentral.com)
Pancreatic4
- Patients harboring germline BRCA2 mutations are at an increased risk of developing pancreatic cancer. (nih.gov)
- We investigated the prevalence of biallelic inactivation of BRCA2 in the presumed precursors to invasive pancreatic ductal carcinomas, pancreatic intraepithelial neoplasia (PanIN). (nih.gov)
- Surgical resection specimens from three patients with germline BRCA2 mutations who developed pancreatic ductal adenocarcinoma were studied. (nih.gov)
- These results suggest that biallelic inactivation of the BRCA2 gene is a relatively late event in pancreatic tumorigenesis. (nih.gov)
Recombinational Repair1
- Esashi F, Christ N, Gannon J, Liu Y, Hunt T, Jasin M, West SC: CDK-dependent phosphorylation of BRCA2 as a regulatory mechanism for recombinational repair. (beds.ac.uk)
Susceptibility to breast1
- Proteins outlined in blue are encoded by genes that confer susceptibility to breast cancer. (cdc.gov)
Gene mutations4
- Most BRCA2 gene mutations lead to the production of an abnormally small, nonfunctional version of the BRCA2 protein from one copy of the gene in each cell. (medlineplus.gov)
- Inherited BRCA2 gene mutations have been found to increase the risk of prostate cancer. (medlineplus.gov)
- BRCA2 gene mutations likely reduce the BRCA2 protein's ability to repair DNA, allowing potentially damaging mutations to persist in various other genes. (medlineplus.gov)
- Your doctor may order tests to look for BRCA1 , BRCA2 , and HER2 gene mutations. (healthline.com)
Faulty BRCA2 gene2
- Since the cells of people with a faulty BRCA2 gene should still be able to repair DNA using the BRCA2 protein made from the remaining, intact copy of the gene, something else must be at play. (naturalnews.com)
- An estimated one in 100 people carries a faulty BRCA2 gene. (naturalnews.com)
Germline BRCA2 mutations2
- The presence of the wild-type alleles was evaluated at the nucleotide positions of the germline BRCA2 mutations. (nih.gov)
- The selection of study subjects for this analysis was based on several criteria with the goal to enrich the sample set with subjects who theoretically may have a higher probability of harboring germline BRCA2 mutations. (aacrjournals.org)
Mutant5
- Expression of any of these protein fusions in Brca2 mutant cells substantially improved HDR while suppressing mutagenic repair. (pnas.org)
- While BRCA2 could be deubiquitinated by USP11 in transient overexpression assays, a catalytically inactive USP11 mutant had no effect on BRCA2 ubiquitination or protein levels. (nih.gov)
- Antagonism of USP11 function either through expression of this mutant or through RNA interference increased cellular sensitivity to MMC in a BRCA2-dependent manner. (nih.gov)
- In the non-mutant mouse, FANCG protein is expressed in spermatogonia, preleptotene spermatocytes and spermatocytes in the leptotene, zygotene and early pachytene stages of meiosis. (wikipedia.org)
- Knowledge of a protein and how it behaves could lead to the development of a search for chemical compounds, and eventually drugs that can stop mutant versions of the protein from wreaking havoc in cells. (healthcanal.com)
Binds1
- Our study also showed how a single-stranded DNA binds across the BRCA2. (theconversation.com)
Genes produce2
- The BRCA1 and BRCA2 genes produce proteins that act as tumor suppressor proteins. (aacr.org)
- BRCA1 and BRCA2 genes produce a type of protein known as tumor suppressor proteins. (healthline.com)
Germ-line3
- The importance of germ-line BRCA2 mutations in individuals without a family history of breast cancer is unknown. (nih.gov)
- Furthermore, germ-line BRCA2 mutation can be present without a strong family history of breast cancer. (nih.gov)
- Estimation is based on the incidence of breast cancer in relatives of cases found to carry a germ-line protein-truncating mutation in one of the tested exons, which cover about two-thirds of the coding regions of BRCA1 and BRCA2 . (aacrjournals.org)
Familial breast cancer3
- A BRCA2 founder mutation, BRCA2 999del5, accounts for the majority of familial breast cancer cases in Iceland. (beds.ac.uk)
- The BRCA2 gene was identified based on its involvement in familial breast cancer. (pnas.org)
- However, mutations in BRCA2 , like BRCA1 , are mainly found in familial breast cancer but seldom occur in sporadic cases ( 8 , 9 ). (pnas.org)
Hereditary1
- However, studies of the contribution of BRCA2 mutations to the etiology of hereditary prostate cancer (HPC) have been inconsistent. (aacrjournals.org)