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)
A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear protein that is a component of DNA repair pathways.
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)
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)
Any detectable and heritable alteration in the lineage of germ cells. Mutations in these cells (i.e., "generative" cells ancestral to the gametes) are transmitted to progeny while those in somatic cells are not.
Tumors or cancer of the human BREAST.
Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
An ethnic group with historical ties to the land of ISRAEL and the religion of JUDAISM.
Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.
An individual having different alleles at one or more loci regarding a specific character.
A Rec A recombinase found in eukaryotes. Rad51 is involved in DNA REPAIR of double-strand breaks.
A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.
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.
Any neoplasms of the male breast. These occur infrequently in males in developed countries, the incidence being about 1% of that in females.
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.
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.
Biochemical identification of mutational changes in a nucleotide sequence.
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.
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.
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.
Excision of one or both of the FALLOPIAN TUBES.
Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.
Proteins that are normally involved in holding cellular growth in check. Deficiencies or abnormalities in these proteins may lead to unregulated cell growth and tumor development.
An exchange of DNA between matching or similar sequences.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
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.
Benign or malignant neoplasms of the FALLOPIAN TUBES. They are uncommon. If they develop, they may be located in the wall or within the lumen as a growth attached to the wall by a stalk.
An increased tendency of the GENOME to acquire MUTATIONS when various processes involved in maintaining and replicating the genome are dysfunctional.
Identification of genetic carriers for a given trait.
Phthalazines are heterocyclic aromatic organic compounds consisting of a benzene ring fused with a 1,2-diazine ring, which have been used as intermediates in the synthesis of various pharmaceuticals and dyes.
The health status of the family as a unit including the impact of the health of one member of the family on the family as a unit and on individual family members; also, the impact of family organization or disorganization on the health status of its members.
A cell line derived from cultured tumor cells.
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action in neoplastic tissue.

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)

BRCA1 protein is a tumor suppressor protein that plays a crucial role in repairing damaged DNA and maintaining genomic stability. The BRCA1 gene provides instructions for making this protein. Mutations in the BRCA1 gene can lead to impaired function of the BRCA1 protein, significantly increasing the risk of developing breast, ovarian, and other types of cancer.

The BRCA1 protein forms complexes with several other proteins to participate in various cellular processes, such as:

1. DNA damage response and repair: BRCA1 helps recognize and repair double-strand DNA breaks through homologous recombination, a precise error-free repair mechanism.
2. Cell cycle checkpoints: BRCA1 is involved in regulating the G1/S and G2/M cell cycle checkpoints to ensure proper DNA replication and cell division.
3. Transcription regulation: BRCA1 can act as a transcriptional co-regulator, influencing the expression of genes involved in various cellular processes, including DNA repair and cell cycle control.
4. Apoptosis: In cases of severe or irreparable DNA damage, BRCA1 helps trigger programmed cell death (apoptosis) to eliminate potentially cancerous cells.

Individuals with inherited mutations in the BRCA1 gene have a higher risk of developing breast and ovarian cancers compared to the general population. Genetic testing for BRCA1 mutations is available for individuals with a family history of these cancers or those who meet specific clinical criteria. Identifying carriers of BRCA1 mutations allows for enhanced cancer surveillance, risk reduction strategies, and potential targeted therapies.

BRCA1 (BReast CAncer gene 1) is a tumor suppressor gene that produces a protein involved in repairing damaged DNA and maintaining genetic stability. Mutations in the BRCA1 gene are associated with an increased risk of developing hereditary breast and ovarian cancers. Inherited mutations in this gene account for about 5% of all breast cancers and about 10-15% of ovarian cancers. Women who have a mutation in the BRCA1 gene have a significantly higher risk of developing breast cancer and ovarian cancer compared to women without mutations. The protein produced by the BRCA1 gene also interacts with other proteins to regulate cell growth and division, so its disruption can lead to uncontrolled cell growth and tumor formation.

BRCA2 (pronounced "braca two") protein is a tumor suppressor protein that plays a crucial role in repairing damaged DNA in cells. It is encoded by the BRCA2 gene, which is located on chromosome 13. Mutations in the BRCA2 gene have been associated with an increased risk of developing certain types of cancer, particularly breast and ovarian cancer in women, and breast and prostate cancer in men.

The BRCA2 protein interacts with other proteins to repair double-strand breaks in DNA through a process called homologous recombination. When the BRCA2 protein is not functioning properly due to a mutation, damaged DNA may not be repaired correctly, leading to genetic instability and an increased risk of cancer.

It's important to note that not all people with BRCA2 mutations will develop cancer, but their risk is higher than those without the mutation. Genetic testing can identify individuals who have inherited a mutation in the BRCA2 gene and help guide medical management and screening recommendations.

BRCA2 is a specific gene that provides instructions for making a protein that helps suppress the growth of cells and plays a crucial role in repairing damaged DNA. Mutations in the BRCA2 gene are known to significantly increase the risk of developing breast cancer, ovarian cancer, and several other types of cancer.

The BRCA2 protein is involved in the process of homologous recombination, which is a type of DNA repair that occurs during cell division. When DNA is damaged, this protein helps to fix the damage by finding a similar sequence on a sister chromatid (a copy of the chromosome) and using it as a template to accurately repair the break.

If the BRCA2 gene is mutated and cannot produce a functional protein, then the cell may not be able to repair damaged DNA effectively. Over time, this can lead to an increased risk of developing cancer due to the accumulation of genetic alterations that cause cells to grow and divide uncontrollably.

It's worth noting that while mutations in the BRCA2 gene are associated with an increased risk of cancer, not everyone who has a mutation will develop cancer. However, those who do develop cancer tend to have an earlier onset and more aggressive form of the disease. Genetic testing can be used to identify mutations in the BRCA2 gene, which can help inform medical management and screening recommendations for individuals and their families.

A germ-line mutation is a genetic change that occurs in the egg or sperm cells (gametes), and thus can be passed down from parents to their offspring. These mutations are present throughout the entire body of the offspring, as they are incorporated into the DNA of every cell during embryonic development.

Germ-line mutations differ from somatic mutations, which occur in other cells of the body that are not involved in reproduction. While somatic mutations can contribute to the development of cancer and other diseases within an individual, they are not passed down to future generations.

It's important to note that germ-line mutations can have significant implications for medical genetics and inherited diseases. For example, if a parent has a germ-line mutation in a gene associated with a particular disease, their offspring may have an increased risk of developing that disease as well.

Breast neoplasms refer to abnormal growths in the breast tissue that can be benign or malignant. Benign breast neoplasms are non-cancerous tumors or growths, while malignant breast neoplasms are cancerous tumors that can invade surrounding tissues and spread to other parts of the body.

Breast neoplasms can arise from different types of cells in the breast, including milk ducts, milk sacs (lobules), or connective tissue. The most common type of breast cancer is ductal carcinoma, which starts in the milk ducts and can spread to other parts of the breast and nearby structures.

Breast neoplasms are usually detected through screening methods such as mammography, ultrasound, or MRI, or through self-examination or clinical examination. Treatment options for breast neoplasms depend on several factors, including the type and stage of the tumor, the patient's age and overall health, and personal preferences. Treatment may include surgery, radiation therapy, chemotherapy, hormone therapy, or targeted therapy.

Ovarian neoplasms refer to abnormal growths or tumors in the ovary, which can be benign (non-cancerous) or malignant (cancerous). These growths can originate from various cell types within the ovary, including epithelial cells, germ cells, and stromal cells. Ovarian neoplasms are often classified based on their cell type of origin, histological features, and potential for invasive or metastatic behavior.

Epithelial ovarian neoplasms are the most common type and can be further categorized into several subtypes, such as serous, mucinous, endometrioid, clear cell, and Brenner tumors. Some of these epithelial tumors have a higher risk of becoming malignant and spreading to other parts of the body.

Germ cell ovarian neoplasms arise from the cells that give rise to eggs (oocytes) and can include teratomas, dysgerminomas, yolk sac tumors, and embryonal carcinomas. Stromal ovarian neoplasms develop from the connective tissue cells supporting the ovary and can include granulosa cell tumors, thecomas, and fibromas.

It is essential to diagnose and treat ovarian neoplasms promptly, as some malignant forms can be aggressive and potentially life-threatening if not managed appropriately. Regular gynecological exams, imaging studies, and tumor marker tests are often used for early detection and monitoring of ovarian neoplasms. Treatment options may include surgery, chemotherapy, or radiation therapy, depending on the type, stage, and patient's overall health condition.

A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.

I'm sorry for any confusion, but "Jews" is not a medical term. It is a term used to describe a group of people who share cultural, religious, and ethnic heritage. The Jewish people originated from the ancient kingdoms of Israel and Judah. They are bound together by their religion, Judaism, which is based on the Torah, or the five books of Moses.

If you have any medical questions or terms that you would like defined, I'd be happy to help!

Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person's chance of developing or passing on a genetic disorder. Genetic tests are performed on a sample of blood, hair, skin, amniotic fluid (the fluid that surrounds a fetus during pregnancy), or other tissue. For example, a physician may recommend genetic testing to help diagnose a genetic condition, confirm the presence of a gene mutation known to increase the risk of developing certain cancers, or determine the chance for a couple to have a child with a genetic disorder.

There are several types of genetic tests, including:

* Diagnostic testing: This type of test is used to identify or confirm a suspected genetic condition in an individual. It may be performed before birth (prenatal testing) or at any time during a person's life.
* Predictive testing: This type of test is used to determine the likelihood that a person will develop a genetic disorder. It is typically offered to individuals who have a family history of a genetic condition but do not show any symptoms themselves.
* Carrier testing: This type of test is used to determine whether a person carries a gene mutation for a genetic disorder. It is often offered to couples who are planning to have children and have a family history of a genetic condition or belong to a population that has an increased risk of certain genetic disorders.
* Preimplantation genetic testing: This type of test is used in conjunction with in vitro fertilization (IVF) to identify genetic changes in embryos before they are implanted in the uterus. It can help couples who have a family history of a genetic disorder or who are at risk of having a child with a genetic condition to conceive a child who is free of the genetic change in question.
* Pharmacogenetic testing: This type of test is used to determine how an individual's genes may affect their response to certain medications. It can help healthcare providers choose the most effective medication and dosage for a patient, reducing the risk of adverse drug reactions.

It is important to note that genetic testing should be performed under the guidance of a qualified healthcare professional who can interpret the results and provide appropriate counseling and support.

A heterozygote is an individual who has inherited two different alleles (versions) of a particular gene, one from each parent. This means that the individual's genotype for that gene contains both a dominant and a recessive allele. The dominant allele will be expressed phenotypically (outwardly visible), while the recessive allele may or may not have any effect on the individual's observable traits, depending on the specific gene and its function. Heterozygotes are often represented as 'Aa', where 'A' is the dominant allele and 'a' is the recessive allele.

Rad51 recombinase is a protein involved in the repair of double-stranded DNA breaks through homologous recombination, a process that helps maintain genomic stability. This protein forms a nucleoprotein filament on single-stranded DNA, facilitating the search for and invasion of homologous sequences in double-stranded DNA. Rad51 recombinase is highly conserved across various species, including humans, and plays a crucial role in preventing genetic disorders, cancer, and aging caused by DNA damage.

Genetic predisposition to disease refers to an increased susceptibility or vulnerability to develop a particular illness or condition due to inheriting specific genetic variations or mutations from one's parents. These genetic factors can make it more likely for an individual to develop a certain disease, but it does not guarantee that the person will definitely get the disease. Environmental factors, lifestyle choices, and interactions between genes also play crucial roles in determining if a genetically predisposed person will actually develop the disease. It is essential to understand that having a genetic predisposition only implies a higher risk, not an inevitable outcome.

The Founder Effect is a concept in population genetics that refers to the loss of genetic variation that occurs when a new colony is established by a small number of individuals from a larger population. This decrease in genetic diversity can lead to an increase in homozygosity, which can in turn result in a higher frequency of certain genetic disorders or traits within the founding population and its descendants. The Founder Effect is named after the "founding" members of the new colony who carry and pass on their particular set of genes to the next generations. It is one of the mechanisms that can lead to the formation of distinct populations or even new species over time.

Breast neoplasms in males refer to abnormal growths or tumors in the male breast tissue. These neoplasms can be benign (non-cancerous) or malignant (cancerous). While breast cancer is much less common in men than in women, it can still occur and should be taken seriously.

The most common type of breast cancer in men is invasive ductal carcinoma, which starts in the milk ducts and spreads to surrounding tissue. Other types of breast cancer that can occur in men include inflammatory breast cancer, lobular carcinoma, and Paget's disease of the nipple.

Risk factors for developing male breast cancer include age (most cases are diagnosed after age 60), family history of breast cancer, genetic mutations such as BRCA1 or BRCA2, radiation exposure, obesity, liver disease, and testicular conditions such as undescended testicles.

Symptoms of male breast neoplasms may include a painless lump in the breast tissue, skin changes such as dimpling or redness, nipple discharge, or a retracted nipple. If you notice any of these symptoms, it is important to consult with a healthcare professional for further evaluation and treatment.

Hereditary neoplastic syndromes refer to genetic disorders that predispose affected individuals to develop tumors or cancers. These syndromes are caused by inherited mutations in specific genes that regulate cell growth and division. As a result, cells may divide and grow uncontrollably, leading to the formation of benign or malignant tumors.

Examples of hereditary neoplastic syndromes include:

1. Hereditary breast and ovarian cancer syndrome (HBOC): This syndrome is caused by mutations in the BRCA1 or BRCA2 genes, which increase the risk of developing breast, ovarian, and other cancers.
2. Lynch syndrome: Also known as hereditary non-polyposis colorectal cancer (HNPCC), this syndrome is caused by mutations in DNA mismatch repair genes, leading to an increased risk of colon, endometrial, and other cancers.
3. Li-Fraumeni syndrome: This syndrome is caused by mutations in the TP53 gene, which increases the risk of developing a wide range of cancers, including breast, brain, and soft tissue sarcomas.
4. Familial adenomatous polyposis (FAP): This syndrome is caused by mutations in the APC gene, leading to the development of numerous colon polyps that can become cancerous if not removed.
5. Neurofibromatosis type 1 (NF1): This syndrome is caused by mutations in the NF1 gene and is characterized by the development of benign tumors called neurofibromas on the nerves and skin.
6. Von Hippel-Lindau disease (VHL): This syndrome is caused by mutations in the VHL gene, leading to an increased risk of developing various types of tumors, including kidney, pancreas, and adrenal gland tumors.

Individuals with hereditary neoplastic syndromes often have a higher risk of developing cancer than the general population, and they may require more frequent screening and surveillance to detect cancers at an early stage when they are more treatable.

A neoplasm is a tumor or growth that is formed by an abnormal and excessive proliferation of cells, which can be benign or malignant. Neoplasm proteins are therefore any proteins that are expressed or produced in these neoplastic cells. These proteins can play various roles in the development, progression, and maintenance of neoplasms.

Some neoplasm proteins may contribute to the uncontrolled cell growth and division seen in cancer, such as oncogenic proteins that promote cell cycle progression or inhibit apoptosis (programmed cell death). Others may help the neoplastic cells evade the immune system, allowing them to proliferate undetected. Still others may be involved in angiogenesis, the formation of new blood vessels that supply the tumor with nutrients and oxygen.

Neoplasm proteins can also serve as biomarkers for cancer diagnosis, prognosis, or treatment response. For example, the presence or level of certain neoplasm proteins in biological samples such as blood or tissue may indicate the presence of a specific type of cancer, help predict the likelihood of cancer recurrence, or suggest whether a particular therapy will be effective.

Overall, understanding the roles and behaviors of neoplasm proteins can provide valuable insights into the biology of cancer and inform the development of new diagnostic and therapeutic strategies.

DNA Mutational Analysis is a laboratory test used to identify genetic variations or changes (mutations) in the DNA sequence of a gene. This type of analysis can be used to diagnose genetic disorders, predict the risk of developing certain diseases, determine the most effective treatment for cancer, or assess the likelihood of passing on an inherited condition to offspring.

The test involves extracting DNA from a patient's sample (such as blood, saliva, or tissue), amplifying specific regions of interest using polymerase chain reaction (PCR), and then sequencing those regions to determine the precise order of nucleotide bases in the DNA molecule. The resulting sequence is then compared to reference sequences to identify any variations or mutations that may be present.

DNA Mutational Analysis can detect a wide range of genetic changes, including single-nucleotide polymorphisms (SNPs), insertions, deletions, duplications, and rearrangements. The test is often used in conjunction with other diagnostic tests and clinical evaluations to provide a comprehensive assessment of a patient's genetic profile.

It is important to note that not all mutations are pathogenic or associated with disease, and the interpretation of DNA Mutational Analysis results requires careful consideration of the patient's medical history, family history, and other relevant factors.

DNA repair is the process by which cells identify and correct damage to the DNA molecules that encode their genome. DNA can be damaged by a variety of internal and external factors, such as radiation, chemicals, and metabolic byproducts. If left unrepaired, this damage can lead to mutations, which may in turn lead to cancer and other diseases.

There are several different mechanisms for repairing DNA damage, including:

1. Base excision repair (BER): This process repairs damage to a single base in the DNA molecule. An enzyme called a glycosylase removes the damaged base, leaving a gap that is then filled in by other enzymes.
2. Nucleotide excision repair (NER): This process repairs more severe damage, such as bulky adducts or crosslinks between the two strands of the DNA molecule. An enzyme cuts out a section of the damaged DNA, and the gap is then filled in by other enzymes.
3. Mismatch repair (MMR): This process repairs errors that occur during DNA replication, such as mismatched bases or small insertions or deletions. Specialized enzymes recognize the error and remove a section of the newly synthesized strand, which is then replaced by new nucleotides.
4. Double-strand break repair (DSBR): This process repairs breaks in both strands of the DNA molecule. There are two main pathways for DSBR: non-homologous end joining (NHEJ) and homologous recombination (HR). NHEJ directly rejoins the broken ends, while HR uses a template from a sister chromatid to repair the break.

Overall, DNA repair is a crucial process that helps maintain genome stability and prevent the development of diseases caused by genetic mutations.

Genetic counseling is a process of communication and education between a healthcare professional and an individual or family, aimed at understanding, adapting to, and managing the medical, psychological, and familial implications of genetic contributions to disease. This includes providing information about the risk of inherited conditions, explaining the implications of test results, discussing reproductive options, and offering support and resources for coping with a genetic condition. Genetic counselors are trained healthcare professionals who specialize in helping people understand genetic information and its impact on their health and lives.

DNA damage refers to any alteration in the structure or composition of deoxyribonucleic acid (DNA), which is the genetic material present in cells. DNA damage can result from various internal and external factors, including environmental exposures such as ultraviolet radiation, tobacco smoke, and certain chemicals, as well as normal cellular processes such as replication and oxidative metabolism.

Examples of DNA damage include base modifications, base deletions or insertions, single-strand breaks, double-strand breaks, and crosslinks between the two strands of the DNA helix. These types of damage can lead to mutations, genomic instability, and chromosomal aberrations, which can contribute to the development of diseases such as cancer, neurodegenerative disorders, and aging-related conditions.

The body has several mechanisms for repairing DNA damage, including base excision repair, nucleotide excision repair, mismatch repair, and double-strand break repair. However, if the damage is too extensive or the repair mechanisms are impaired, the cell may undergo apoptosis (programmed cell death) to prevent the propagation of potentially harmful mutations.

Salpingectomy is a surgical procedure in which one or both of the fallopian tubes are removed. These tubes are slender structures that connect the ovaries to the uterus, through which the egg travels from the ovary to the uterus during ovulation. Salpingectomy can be performed for various reasons such as ectopic pregnancy, salpingitis (inflammation of the fallopian tubes), hydrosalpinx (fluid-filled tube), or as a preventative measure in women with increased risk of ovarian cancer. The procedure can be carried out through laparoscopy, hysteroscopy, or laparotomy, depending on the patient's condition and the surgeon's preference.

Transcription factors are proteins that play a crucial role in regulating gene expression by controlling the transcription of DNA to messenger RNA (mRNA). They function by binding to specific DNA sequences, known as response elements, located in the promoter region or enhancer regions of target genes. This binding can either activate or repress the initiation of transcription, depending on the properties and interactions of the particular transcription factor. Transcription factors often act as part of a complex network of regulatory proteins that determine the precise spatiotemporal patterns of gene expression during development, differentiation, and homeostasis in an organism.

Tumor suppressor proteins are a type of regulatory protein that helps control the cell cycle and prevent cells from dividing and growing in an uncontrolled manner. They work to inhibit tumor growth by preventing the formation of tumors or slowing down their progression. These proteins can repair damaged DNA, regulate gene expression, and initiate programmed cell death (apoptosis) if the damage is too severe for repair.

Mutations in tumor suppressor genes, which provide the code for these proteins, can lead to a decrease or loss of function in the resulting protein. This can result in uncontrolled cell growth and division, leading to the formation of tumors and cancer. Examples of tumor suppressor proteins include p53, Rb (retinoblastoma), and BRCA1/2.

Homologous recombination is a type of genetic recombination that occurs between two similar or identical (homologous) segments of DNA. It is a natural process that helps to maintain the stability of an organism's genome and plays a crucial role in DNA repair, particularly the repair of double-strand breaks.

In homologous recombination, the two DNA molecules exchange genetic information through a series of steps, including the formation of Holliday junctions, where the strands cross over and exchange partners. This process can result in new combinations of genetic material, which can increase genetic diversity and contribute to evolution.

Homologous recombination is also used in biotechnology and genetic engineering to introduce specific changes into DNA sequences or to create genetically modified organisms.

I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.

Ubiquitin-protein ligases, also known as E3 ubiquitin ligases, are a group of enzymes that play a crucial role in the ubiquitination process. Ubiquitination is a post-translational modification where ubiquitin molecules are attached to specific target proteins, marking them for degradation by the proteasome or for other regulatory functions.

Ubiquitin-protein ligases catalyze the final step in this process by binding to both the ubiquitin protein and the target protein, facilitating the transfer of ubiquitin from an E2 ubiquitin-conjugating enzyme to the target protein. There are several different types of ubiquitin-protein ligases, each with their own specificity for particular target proteins and regulatory functions.

Ubiquitin-protein ligases have been implicated in various cellular processes such as protein degradation, DNA repair, signal transduction, and regulation of the cell cycle. Dysregulation of ubiquitination has been associated with several diseases, including cancer, neurodegenerative disorders, and inflammatory responses. Therefore, understanding the function and regulation of ubiquitin-protein ligases is an important area of research in biology and medicine.

Fallopian tube neoplasms are abnormal growths that occur in the epithelial lining of the fallopian tubes, which are a pair of narrow tubes that transport eggs from the ovaries to the uterus during ovulation. These neoplasms can be benign (non-cancerous) or malignant (cancerous).

Benign neoplasms of the fallopian tube include adenomas, papillomas, and leiomyomas. They are usually asymptomatic but can cause symptoms such as pelvic pain, abnormal vaginal bleeding, and infertility. Treatment typically involves surgical removal of the neoplasm.

Malignant neoplasms of the fallopian tube are rare and include primary fallopian tube carcinoma and metastatic tumors that have spread to the fallopian tubes from other organs. Primary fallopian tube carcinoma is a highly aggressive cancer that can cause symptoms such as abnormal vaginal bleeding, pelvic pain, and watery discharge. Treatment typically involves surgical removal of the affected tube, followed by chemotherapy and radiation therapy.

Overall, Fallopian tube neoplasms are uncommon but can have serious consequences if left untreated. Regular gynecological exams and screenings can help detect these neoplasms early and improve treatment outcomes.

Genomic instability is a term used in genetics and molecular biology to describe a state of increased susceptibility to genetic changes or mutations in the genome. It can be defined as a condition where the integrity and stability of the genome are compromised, leading to an increased rate of DNA alterations such as point mutations, insertions, deletions, and chromosomal rearrangements.

Genomic instability is a hallmark of cancer cells and can also be observed in various other diseases, including genetic disorders and aging. It can arise due to defects in the DNA repair mechanisms, telomere maintenance, epigenetic regulation, or chromosome segregation during cell division. These defects can result from inherited genetic mutations, acquired somatic mutations, exposure to environmental mutagens, or age-related degenerative changes.

Genomic instability is a significant factor in the development and progression of cancer as it promotes the accumulation of oncogenic mutations that contribute to tumor initiation, growth, and metastasis. Therefore, understanding the mechanisms underlying genomic instability is crucial for developing effective strategies for cancer prevention, diagnosis, and treatment.

Heterozygote detection is a method used in genetics to identify individuals who carry one normal and one mutated copy of a gene. These individuals are known as heterozygotes and they do not typically show symptoms of the genetic disorder associated with the mutation, but they can pass the mutated gene on to their offspring, who may then be affected.

Heterozygote detection is often used in genetic counseling and screening programs for recessive disorders such as cystic fibrosis or sickle cell anemia. By identifying heterozygotes, individuals can be informed of their carrier status and the potential risks to their offspring. This information can help them make informed decisions about family planning and reproductive options.

Various methods can be used for heterozygote detection, including polymerase chain reaction (PCR) based tests, DNA sequencing, and genetic linkage analysis. The choice of method depends on the specific gene or mutation being tested, as well as the availability and cost of the testing technology.

Phthalazines are not a medical term, but a chemical one. They refer to a class of heterocyclic organic compounds that contain a phthalazine ring in their structure. The phthalazine ring is made up of two benzene rings fused to a single six-membered saturated carbon ring containing two nitrogen atoms.

Phthalazines have no specific medical relevance, but some of their derivatives are used in the pharmaceutical industry as building blocks for various drugs. For example, certain phthalazine derivatives have been developed as potential medications for conditions such as hypertension, heart failure, and cancer. However, these compounds are still in the experimental stages and have not yet been approved for medical use.

It's worth noting that some phthalazines have been found to have toxic effects on living organisms, so their use in medical applications is carefully regulated.

"Family Health" is not a term that has a single, widely accepted medical definition. However, in the context of healthcare and public health, "family health" often refers to the physical, mental, and social well-being of all members of a family unit. It includes the assessment, promotion, and prevention of health conditions that affect individual family members as well as the family as a whole.

Family health may also encompass interventions and programs that aim to strengthen family relationships, communication, and functioning, as these factors can have a significant impact on overall health outcomes. Additionally, family health may involve addressing social determinants of health, such as poverty, housing, and access to healthcare, which can affect the health of families and communities.

Overall, family health is a holistic approach to healthcare that recognizes the importance of considering the needs and experiences of all family members in promoting and maintaining good health.

A cell line that is derived from tumor cells and has been adapted to grow in culture. These cell lines are often used in research to study the characteristics of cancer cells, including their growth patterns, genetic changes, and responses to various treatments. They can be established from many different types of tumors, such as carcinomas, sarcomas, and leukemias. Once established, these cell lines can be grown and maintained indefinitely in the laboratory, allowing researchers to conduct experiments and studies that would not be feasible using primary tumor cells. It is important to note that tumor cell lines may not always accurately represent the behavior of the original tumor, as they can undergo genetic changes during their time in culture.

Neoplastic gene expression regulation refers to the processes that control the production of proteins and other molecules from genes in neoplastic cells, or cells that are part of a tumor or cancer. In a normal cell, gene expression is tightly regulated to ensure that the right genes are turned on or off at the right time. However, in cancer cells, this regulation can be disrupted, leading to the overexpression or underexpression of certain genes.

Neoplastic gene expression regulation can be affected by a variety of factors, including genetic mutations, epigenetic changes, and signals from the tumor microenvironment. These changes can lead to the activation of oncogenes (genes that promote cancer growth and development) or the inactivation of tumor suppressor genes (genes that prevent cancer).

Understanding neoplastic gene expression regulation is important for developing new therapies for cancer, as targeting specific genes or pathways involved in this process can help to inhibit cancer growth and progression.

... and BRCA2 (/ˌbrækəˈtuː/) are a human gene and its protein product, respectively. The official symbol (BRCA2, italic for ... One alternative symbol, FANCD1, recognizes its association with the FANC protein complex. Orthologs, styled Brca2 and Brca2, ... its protein, also called by the synonym breast cancer type 2 susceptibility protein, is responsible for repairing DNA. BRCA2 ... the protein product of the BRCA2 gene is abnormal, and does not function properly. Researchers believe that the defective BRCA2 ...
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 ...
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 ...
... 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 ...
"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; ...
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 ...
"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. ...
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. ...
"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 ...
This mutation interferes with the association of the HMG20B and BRCA2 proteins. HMG20B has been shown to interact with: BRCA2, ... 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". ...
... 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, ...
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 ...
Lee YM, Kim W (September 2003). "Association of human kinesin superfamily protein member 4 with BRCA2-associated factor 35". ... "Association of human kinesin superfamily protein member 4 with BRCA2-associated factor 35". The Biochemical Journal. 374 (Pt 2 ... Kinesin family member 4A is a protein that in humans is encoded by the KIF4A gene. Kinesins, such as KIF4A, are microtubule- ... Sekine Y, Okada Y, Noda Y, Kondo S, Aizawa H, Takemura R, Hirokawa N (October 1994). "A novel microtubule-based motor protein ( ...
BRCA1, BRCA2 and PALB2 are proteins that are important for the repair of double-strand DNA breaks by the error-free homologous ... October 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 ...
... which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene". Nature Genetics. 39 (2): 165-167. doi: ... "Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2". Molecular Cell. 22 (6): 719-729. doi:10.1016/j. ... "Fanconi anemia is associated with a defect in the BRCA2 partner PALB2". Nature Genetics. 39 (2): 159-161. doi:10.1038/ng1942. ...
He is best known for discovering how mutations affecting the breast cancer gene, BRCA2, and related proteins cause genome ... "Stabilization of stalled DNA replication forks by the BRCA2 breast cancer susceptibility protein". Genes & Development. 17 (24 ... "Modulating Protein-Protein Interactions of the Mitotic Polo-like Kinases to Target Mutant KRAS". Cell Chemical Biology. 24 (8 ... helping to explain why BRCA2-deficient cells spontaneously exhibit genome instability during cell division, and why BRCA2- ...
Normally, RAD51 interacts with both BRCA1 and BRCA2 protein products to cause tumor suppression. This leads to the assumption ... DNA repair and recombination protein RAD54-like is a protein that in humans is encoded by the RAD54L gene. The protein encoded ... It encodes a protein, composed of 747 amino acids, that is 52% identical to its yeast counterpart. These two proteins also ... a protein known to be involved in the homologous recombination and repair of DNA. This protein has been shown to play a role in ...
"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 ...
The regulation of HR in mammalian cells involves key HR proteins such as BRCA1 and BRCA2. And as mentioned, since HR can lead ... Proteins such as the proteins ATM, ATR and DNA-dependent protein kinase (DNA-PK) are vital for the process of detection of DSB ... Other proteins such as RP-A protein and RAD52 also coordinate in the heteroduplex formation, the RP-A protein has to be removed ... This is then followed by the processing of any non-ligatable DNA termini by a group of proteins including Artemis, PNKP, APLF ...
"Interaction between BRCA2 and replication protein A is compromised by a cancer-predisposing mutation in BRCA2". Oncogene. 22 (1 ... DNA-binding subunit Replication protein A Replication protein A2 Replication protein A3 Single-stranded binding protein GRCh38 ... 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 ...
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 plc is a producer, distributor and seller of protein research tools operating worldwide from 13 locations with 1.800 ... United Kingdom that provided high-quality biochemical products that modulate the function of proteins for use in life science ...
... 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 ...
June 2007). "Loss of nuclear BRCA1 protein staining in normal tissue cells derived from BRCA1 and BRCA2 mutation carriers". ... 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 ... June 2009). "Integrative analysis of cyclin protein levels identifies cyclin b1 as a classifier and predictor of outcomes in ...
"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: ...
... 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, ...
... 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 ...
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 ... February 2011). "Mutant proteins as cancer-specific biomarkers". Proceedings of the National Academy of Sciences of the United ...
The smaller size of the Leishmania BRCA2 DNA repair protein has been exploited to better understand its function in homologous ... Comparative bioinformatic analyses showed that the size of the L. infantum BRCA2 protein is approximately three times smaller ( ... Furthermore, analyses revealed that LiBRCA2 possesses key features of the BRCA2 family. ... "Interactions between BRCA2 and RAD51 for promoting homologous recombination in Leishmania infantum". Nucleic Acids Res. 40 (14 ...
Siddique H, Rao VN, Reddy ES (August 2009). "CBP-mediated post-translational N-glycosylation of BRCA2". International Journal ... Response Element-Binding Protein (CREB)-Binding Protein] Research Using Computational Techniques". The Protein Journal. 40 (1 ... CREB-binding protein, also known as CREBBP or CBP or KAT3A, (where CREB is cAMP response element-binding protein) is a ... CBP does not directly interact with promoter elements; it is brought to the site via protein-protein interactions that are the ...
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 ... There may be a role for FA proteins outside the nucleolus in ribosome biogenesis or protein translation as FANCI and FANCD2 ...
BRCA1 ProteinBRCA2 ProteinRad51 RecombinaseNeoplasm ProteinsTranscription FactorsTumor Suppressor ProteinsUbiquitin-Protein ... BRCA2 Protein. A large, nuclear protein, encoded by the BRCA2 gene (GENE, BRCA2). Mutations in this gene predispose humans to ... BRCA1 Protein [D12.776.313.125] * BRCA2 Protein [D12.776.313.249] ... Amino Acids, Peptides, and Proteins [D12] * Proteins [ ... BRCA1 Protein [D12.776.313.125] * BRCA2 Protein [D12.776.313.249] ... Amino Acids, Peptides, and Proteins [D12] * Proteins [ ...
... variant is associated with risk of developing breast and ovarian cancers independent of other pathogenic variants in BRCA2. ... BRCA2 Protein * BRCA2 protein, human * Codon, Terminator * Lysine Grants and funding * U10 CA180868/CA/NCI NIH HHS/United ... Background: The K3326X variant in BRCA2 (BRCA2*c.9976A,T; p.Lys3326*; rs11571833) has been found to be associated with small ... BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers J Natl Cancer Inst. 2015 Nov 19;108(2 ...
... estimates of the lifetime risk of breast cancer in carriers of BRCA1 or BRCA2 mutations may be as high as 85%. The risk for ... Neoplasm Proteins * Transcription Factors Grants and funding * 5 MO1 RR00071/RR/NCRR NIH HHS/United States ... Frequency and carrier risk associated with common BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer patients Am J Hum ... We determined the frequency of the common BRCA1 (185delAG and 5382insC) and BRCA2 (6174delT) mutations in a series of 268 ...
... that BRCA2 stability is dependent on HSP90, that ubiquitin might not be involved in directly targeting BRCA2 for protein ... On the mechanism of hyperthermia-induced BRCA2 protein degradation. Cancers (Basel). 2019 Jan 15;11(1). ... Here, we investigate the mechanisms driving hyperthermia-induced BRCA2 degradation. We find that BRCA2 degradation is ... Heat-induced BRCA2 degradation in human tumours provides rationale for hyperthermia-PARP-inhibitor combination therapies. ...
... and suggest that a cluster of predicted deleterious variants in the BRCA2 OB1 domain may destabilize BRCA2 and a protein ... and suggest that a cluster of predicted deleterious variants in the BRCA2 OB1 domain may destabilize BRCA2 and a protein ... and suggest that a cluster of predicted deleterious variants in the BRCA2 OB1 domain may destabilize BRCA2 and a protein ... and suggest that a cluster of predicted deleterious variants in the BRCA2 OB1 domain may destabilize BRCA2 and a protein ...
BRCA2 and BRCA2 (/ˌbrækəˈtuː/) are a human gene and its protein product, respectively. The official symbol (BRCA2, italic for ... One alternative symbol, FANCD1, recognizes its association with the FANC protein complex. Orthologs, styled Brca2 and Brca2, ... its protein, also called by the synonym breast cancer type 2 susceptibility protein, is responsible for repairing DNA. BRCA2 ... the protein product of the BRCA2 gene is abnormal, and does not function properly. Researchers believe that the defective BRCA2 ...
What does this gene/protein do?. Show (12). XRCC2 is implicated in:. - ATP binding - DNA binding - DNA repair - DNA-dependent ... BRCA1 and BRCA2 testing for hereditary breast and ovarian cancer (HBOC) does not identify all pathogenic variants. Sequencing ... Rare, protein-truncating variants in J Med Genet. 2017; 54(11):732-741 [PubMed] Free Access to Full Article Related ... While the protein-truncating variants p.Leu117fs, p.Arg215*, and p.Cys217* were unable to restore XRCC2 deficiency, 19 out of ...
The BRCA2 R3052W mutated protein exacerbates genome instability, is unable to rescue homology-directed repair, and fails to ... The BRCA2 R3052W mutated protein exacerbates genome instability, is unable to rescue homology-directed repair, and fails to ... Surprisingly, despite anticipated defects in DNA binding or RAD51-mediated DNA strand exchange, the BRCA2 R3052W protein ... Surprisingly, despite anticipated defects in DNA binding or RAD51-mediated DNA strand exchange, the BRCA2 R3052W protein ...
NEDD4-binding protein 2-like 2. Names. phosphonoformate immuno-associated protein 5. protein from BRCA2 region. ... mRNA and Protein(s) * XM_047430041.1 → XP_047285997.1 NEDD4-binding protein 2-like 2 isoform X1 ... mRNA and Protein(s) * XM_054374011.1 → XP_054229986.1 NEDD4-binding protein 2-like 2 isoform X1 ... N4BP2L2 NEDD4 binding protein 2 like 2 [Homo sapiens] N4BP2L2 NEDD4 binding protein 2 like 2 [Homo sapiens]. Gene ID:10443 ...
Cooperation of breast cancer proteins PALB2 and piccolo BRCA2 in stimulating homologous recombination. Nat. Struct. Mol. Biol. ... Error bars represent mean with s.e.m. c SMART of BRCA2-proficient (DLD1 BRCA2 (+/−)) and BRCA2-deficient cells (DLD1 BRCA2 ... However, the DNA resection machinery is intact in BRCA2-deficient cells, because BRCA2 acts later in HR, and we should observe ... 8C, D and 9A). Conversely, BRCA2 knockdown or DLD1 BRCA2 (−/−) cells showed a similar increase of BrdU staining (Supplementary ...
In cancers, low oxygen levels in the tumors cause the amount of this protein to go up dramatically. This causes cancer cells to ... The gene and its protein, both called RBM3, are vital for cell division in normal cells. ... Researchers Solve Structure of BRCA2 Protein Complex Important in DNA Repair. Aug. 13, 2021 The initials BRCA2 may be best ... Anant said they found RBM3 protein in every stage of many cancers, and the amount of protein increased as the cancer grew. The ...
Chromosome and associated proteins [BR:mmu03036]. Eukaryotic type. Centrosome formation proteins. Centriole proteins. 216846 ( ... 09182 Protein families: genetic information processing. 03036 Chromosome and associated proteins [BR:mmu03036]. 216846 (Cntrob) ... Protein sequence (12) UniProt (1) SWISS-PROT (1) RefSeq(pep) (10) DNA sequence (18) RefSeq(nuc) (10) GenBank (4) EMBL (4) All ...
Some of these genes provide instructions for making proteins that interact with the proteins produced from the BRCA1, BRCA2, or ... The proteins produced from the BRCA1 and BRCA2 genes are involved in fixing damaged DNA, which helps to maintain the stability ... Like BRCA1 and BRCA2, the HOXB13 protein is thought to act as a tumor suppressor. HOXB13 gene variants may result in impairment ... For this reason, the BRCA1 and BRCA2 proteins are considered to be tumor suppressors, which means that they help keep cells ...
BRCA1 and BRCA2 are proteins that are involved in DNA repair. So when you have a mutation in BRCA1 and BRCA2 you cant fix ... HRDetect is trained to identify those patterns and tell you what the likelihood is of any tumour having a BRCA1 or BRCA2 type ... So we can see the patterns, and the patterns look identical to BRCA1 or BRCA2 tumours, but we cant find the genetic defect. ... Serena - For those women who have tumours that look like the BRCA1 and BRCA2 tumours, currently theyre not getting the same ...
BRCA2 and CDKN1A interacting protein. protein-coding. BSG. basigin (Ok blood group). protein-coding. ... bone morphogenetic protein receptor type 1B. protein-coding. BRAF. B-Raf proto-oncogene, serine/threonine kinase. protein- ... protein-coding. BMP1. bone morphogenetic protein 1. protein-coding. BMPR2. bone morphogenetic protein receptor type 2. protein- ... bone morphogenetic protein 6. protein-coding. BTBD17. BTB domain containing 17. ...
A change in this gene results in a protein that interacts with the BRCA1 and BRCA2 genes. People with a faulty PALB2 gene have ... BRCA1 and BRCA2 are tumor suppressor genes. If there is a fault in either of these genes, they no longer repair broken DNA. ... If a person has a fault in the BRCA1 or BRCA2 gene, there is a 70% chance. that they will develop breast cancer by the time ... Researchers have linked a number of genes, including BRCA1 and BRCA2, to the development of breast cancer. Although gene ...
Gudmundsdottir, K., and Ashworth, A. (2006). The Roles of BRCA1 and BRCA2 and Associated Proteins in the Maintenance of Genomic ... MutS homolog 6 (MSH6) is one of the mismatch repair proteins and is encoded by the MSH6 gene, The MSH6 protein forms a ... Focal positivity for Glial Fibrillary Acidic Protein (GFAP) was also seen (Figure 2D). MIB-1 index was low, ,0.5% (Figure 2E). ... Focal strong positivity for synaptophysin (Figure 2B), and strong diffuse positivity for Vimentin protein (Figure 2C) was noted ...
As evaluated by co-immunoprecipitation experiments, the dsDNA recombination function relates to the Redα-Redβ protein-protein ... Single strand annealing proteins (SSAPs) like Redβ initiate homologous recombination by annealing complementary DNA strands. We ... BRCA2 and associated proteins. Cold Spring Harb Perspect Biol 7, a016600 (2015). ... However it may also be due to the complexity of the protein-protein interaction. In particular we discovered that the protein- ...
Homologous Recombination and Human Health: The Roles of BRCA1, BRCA2, and Associated Proteins. Rohit Prakash, Yu Zhang, Weiran ... The contributors examine the dozens of proteins that are involved in recombinational repair and the various pathways in which ... they are employed (e.g., gene conversion or break-induced replication). They also discuss how these proteins and pathways are ...
Target with precision using the NEBNext Direct BRCA1/BRCA2 Panel by combining specific enrichment with library preparation. ... Generate full (100%) coverage of all protein coding regions in BRCA1 and BRCA2 genes ... GRCh37hg19 Bed Files for the NEBNext Direct® BRCA1/BRCA2 Panel * GRCh38hg38 Bed Files for the NEBNext Direct® BRCA1/BRCA2 Panel ... The NEBNext Direct BRCA1/BRCA2 Panel is designed to enrich for the complete exonic content of the BRCA1 and BRCA2 genes. This ...
These include p53, BRCA1, BRCA2, STK11, PTEN, CHEK2, ATM, BRIP1, PALB2, FGFR2, TGFB1, MDM2, MDM4 as well as several other ... The BRCA1 and BRCA2 proteins appear to be scaffolding proteins that assemble DNA repair complexes of proteins at double-strand ... Finally the PALB2 gene product (partner and localizer of BRCA2) is part of the BRCA2 protein complex and plays a role in DNA ... There have been a number of other possible functions ascribed to the BRCA1 and BRCA2 proteins such as ubiquitin ligase activity ...
The Brca1 and Brca2 proteins and tumor pathogenesisAnticancer Research. *The Brca1 and Brca2 proteins and tumor pathogenesis ... The Brca1 and Brca2 proteins and tumor pathogenesis.. *Replication error in colorectal carcinoma: association with loss of ... Frequent occurrence of BRCA2 linkage in Icelandic breast cancer families and segregation of a common BRCA2 haplotypeAmerican ... Frequent occurrence of BRCA2 linkage in Icelandic breast cancer families and segregation of a common BRCA2 haplotype. ...
... he can use these images to create a 3-D picture of the BRCA2 protein to further our understanding of how the protein works and ... In the absence of an intact BRCA2 protein, these mutations usually end up killing the cell. But in rare cases and possibly in ... BRCA1 and BRCA2 Human genes responsible for producing proteins that repair DNA replication errors responsible for development ... Toward this end, he will purify more BRCA2 protein samples and examine their structure in crystal form or by using a special ...
Functional restoration of BRCA2 protein by secondary BRCA2 mutations in BRCA2-mutated ovarian carcinoma ... B, protein levels of TR3 and cleaved PARP (Cl PARP) in cells treated with 5 μmol/L cisplatin (24 hours). C, high-power ... B, protein levels of TR3 and cleaved PARP (Cl PARP) in cells treated with 5 μmol/L cisplatin (24 hours). C, high-power ... D, protein levels of TR3, cleaved PARP, and cleaved caspase-3. Values are mean + SD of 3 independent experiments. #, P , 0.01 ...
Invitrogen Anti-BRCA2 Polyclonal, Catalog # PA5-96128. Tested in Western Blot (WB) and Immunocytochemistry (ICC/IF) ... Breast Cancer Type 2 susceptibility protein (BRCA2) is a tumor-suppressor protein reported to be involved in double-strand ... A recombinant fusion protein containing a sequence corresponding to amino acids 2800-3050 of human BRCA2. View immunogen .st0{ ... Protein Aliases: brca 2; brca-2; breast cancer 2, mutation 1, University of Wisconsin-Madison; breast cancer susceptibility ...
suggested by the subcellular localization of Brca1 and Brca2 proteins.. J. Cell. Biochem.,96, 47-55. ... In this context, specific proteins that interact with and bind to MAR sequences called MAR binding proteins ... [Show full ... Although the expression of many NM proteins changes during dedifferentiation, only a very limited group of MAR-binding proteins ... protein-DNA complexes. We find that although protein binding may bend the DNA, bending alone is not sufficient to kink the DNA ...
On the mechanism of hyperthermia-induced BRCA2 protein degradation. Van Den Tempel, N., Zelensky, A. N., Odijk, H., Laffeber, C ... Ubiquitin-like proteins in the DNA damage response: the next generation. Da Costa, I. C. & Schmidt, C. K., 1 May 2020, ( ...
Currently, her projects mainly focus on studying BRCA2 and Tel1 related protein-protein interactions involved in DNA damage ... His work focuses on bacterial dynamin-like protein and PspA, both of which have eukaryotic homologues. Thus, these proteins ... Main work involves protein expression and purification relating to chromatin remodelling complexes of the INO80 family. ... Max studies these proteins using a combination of cryo-electron microscopy, biophysical and biochemical techniques. ...
Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer. Cancer Res 2011;71:2222- ... Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer. . Cancer Res 2011. ;. 71 ... Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. JAMA 2006;295:1379-1388. ... ATM germline mutations in Spanish early-onset breast cancer patients negative for BRCA1/BRCA2 mutations. Clin Genet 2008;73:465 ...
... the average age-specific cumulative risk of breast cancer for a defined set of protein-truncating mutations in BRCA1 and BRCA2 ... Distinct molecular pathogeneses of early-onset breast cancers in BRCA1 and BRCA2 mutation carriers: A population-based study. ... The histologic phenotypes of breast carcinoma occurring before age 40 years in women with and without BRCA1 or BRCA2 germline ... De novo BRCA1 mutation in a patient with breast cancer and an inherited BRCA2 mutation. Am J Hum Genet. 1999;65:567-569 ...
  • Although the structures of the BRCA1 and BRCA2 genes are very different, at least some functions are interrelated. (wikipedia.org)
  • The proteins made by both genes are essential for repairing damaged DNA (see Figure of recombinational repair steps). (wikipedia.org)
  • Like BRCA1, BRCA2 probably regulates the activity of other genes and plays a critical role in embryo development. (wikipedia.org)
  • We investigated a panel of 34 known high/moderate-risk cancer genes, including 16 related to breast or ovarian cancer (BC/OC) genes, and 63 candidate genes to BC/OC in 192 clinically suspicious of hereditary breast/ovarian cancer (HBOC) Spanish families without pathogenic variants in BRCA1 or BRCA2 (BRCA1/2). (cancerindex.org)
  • We are excited about this discovery because most cancers are thought to come from mutations in genes, and our studies, for the first time, have shown that too much of this type of protein actually causes normal cells to turn into cancer cells," said Shrikant Anant, Ph.D., a cancer biologist at the OU Cancer Institute and principal investigator on the project. (sciencedaily.com)
  • Inherited variants in particular genes, such as BRCA1 , BRCA2 , and HOXB13 , account for some cases of hereditary prostate cancer. (medlineplus.gov)
  • 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)
  • Researchers have linked a number of genes, including BRCA1 and BRCA2, to the development of breast cancer. (medicalnewstoday.com)
  • BRCA1 and BRCA2 are tumor suppressor genes. (medicalnewstoday.com)
  • A change in this gene results in a protein that interacts with the BRCA1 and BRCA2 genes. (medicalnewstoday.com)
  • The NEBNext Direct BRCA1/BRCA2 Panel is designed to enrich for the complete exonic content of the BRCA1 and BRCA2 genes. (neb.com)
  • This histogram shows the normalized mean coverage across each of the 49 exon targets of the BRCA1 and BRCA2 genes. (neb.com)
  • Examples of these genes are BRCA1 and BRCA2 in breast and ovarian cancers. (hindawi.com)
  • Although inherited mutations in a small number of genes account for only about five to ten percent of women's cancers, by far the BRCA1 and BRCA2 gene mutations are the most common examples of this observation (50-70% of familial breast cancers) [ 2 ]. (hindawi.com)
  • Dr. Ryan Jensen, one of the world's leading experts on the tumor-suppressing BRCA1 and BRCA2 genes, is constructing a model to uncover how mutations in these genes lead to cancer. (yale.edu)
  • The BRCA1/2 genes work to correct potential tumor-causing mistakes made during the replication of DNA, the material carrying the body's genetic code that directs the production of proteins and passes traits from parents to offspring. (yale.edu)
  • His research may also help to explain why patients who inherit faulty BRCA1 and BRCA2 genes are more predisposed to breast cancer. (againstbreastcancer.org.uk)
  • BRCA1 and BRCA2 are tumor suppressor genes found in humans which encode proteins that function in DNA repair. (biochain.com)
  • Two human genes, BRCA1 and BRCA2 ( BRCA1 / 2 ), produce proteins that block the growth of cancer, such as breast or ovarian cancer. (ahdbonline.com)
  • Studies conducted in cancer-cell lines with defects in DNA repair genes, including BRCA2 and BRCA1 , show that talazoparib-induced cytotoxicity may involve blocking PARP enzymatic activity and increased formation of PARP-DNA complexes. (ahdbonline.com)
  • DNA repair proteins prevent errant cells from turning into cancerous cells, a likely outcome if the damage accumulates in genes important for regulating cell growth and division. (biotechprimer.com)
  • BRCA1/BRCA2 positive cancer is cancer that is associated with mutations in the BRCA1/BRCA2 genes. (biotechprimer.com)
  • Germline mutations in genes encoding homologous-recombination proteins are associated with cancer predisposition, developmental disorders, and premature aging. (cdc.gov)
  • Pathogenic germline sequence variants in two major susceptibility genes BRCA1 and BRCA2 confer a high relative risk and explain a proportion of familial breast cancer. (lu.se)
  • 135 antibodies against 65 mainly immunoregulatory proteins, we of a multitude of different genes (8, 9). (lu.se)
  • The historically first to be characterised strongly predisposing genes give rise to mutations that completely switch off the function of a protein. (lu.se)
  • Rather than having this effect, the genes identified in this study often affect the amount of a protein that is expressed. (lu.se)
  • CpG methylation of the FHIT, FANCF, cyclin-D2, BRCA2 and RUNX3 genes in Granulosa cell tumors (GCTs) of ovarian origin. (cancercentrum.se)
  • We determined the frequency of the common BRCA1 (185delAG and 5382insC) and BRCA2 (6174delT) mutations in a series of 268 anonymous Ashkenazi Jewish women with breast cancer, regardless of family history or age at onset. (nih.gov)
  • The lifetime risk for breast cancer in Ashkenazi Jewish carriers of the BRCA1 185delAG or BRCA2 6174delT mutations was calculated to be 36%, approximately three times the overall risk for the general population (relative risk 2.9, 95% CI 1.5-5.8). (nih.gov)
  • BRCA2 has been shown to possess a crucial role in protection from the MRE11-dependent nucleolytic degradation of the reversed forks that are forming during DNA replication fork stalling (caused by obstacles such as mutations, intercalating agents etc. (wikipedia.org)
  • Researchers have identified hundreds of mutations in the BRCA2 gene, many of which cause an increased risk of cancer. (wikipedia.org)
  • BRCA2 mutations are usually insertions or deletions of a small number of DNA base pairs in the gene. (wikipedia.org)
  • As a result of these mutations, the protein product of the BRCA2 gene is abnormal, and does not function properly. (wikipedia.org)
  • Scope includes mutations and abnormal protein expression. (cancerindex.org)
  • So when you have a mutation in BRCA1 and BRCA2 you can't fix damage and you get a lot of mutations in your genome. (thenakedscientists.com)
  • Mutations on the BRCA1 gene and the similarly tumor-suppressing BRCA2 gene also carry increased lifetime risk for cancers of the pancreas and prostate. (yale.edu)
  • Currently, genetic laboratories can look for well-established disease-causing mutations in specific populations, such as Ashkenazi Jews, who are more likely to pass on any of two clearly defined mutations of the BRCA1 gene or one particular mutation of the BRCA2 gene. (yale.edu)
  • Population-based estimate of the average age-specific cumulative risk of breast cancer for a defined set of protein-truncating mutations in BRCA1 and BRCA2. (cancervic.org.au)
  • Most commonly, such mutations are in the BRCA2 gene. (pcf.org)
  • Feng's team have discovered that some prostate cancers become resistant to PARP-inhibitors by gaining mutations that overwrite the original BRCA2 mutation and restore the activity of the BRCA2 protein. (pcf.org)
  • BRCA1, BRCA2, PARP1, and other DNA-repair proteins correct DNA damage but don't fix mutations. (biotechprimer.com)
  • Carcinomas of the lung, bladder, stomach, and cutaneous melanoma were the frequent tumors demonstrating BRCAm in males, of which the majority were stage II or III diseases with a higher frequency of BRCA2 mutations. (biomedcentral.com)
  • A total of 127 BRCA1 and 311 BRCA2 mutations were identified, of which 21.8 and 28.6% were deleterious, respectively. (biomedcentral.com)
  • BRCA1 fusions with NF1, FAM134C, BECN1, or LSM12 and recurrent BRCA2 mutations at P606L/S, E832K/G, and T3033Lfs*29 were detected. (biomedcentral.com)
  • Frameshift mutations in BRCA2 at N1784 (N1784Kfs*3, N1784Tfs*3) were frequently observed in both male and female patients. (biomedcentral.com)
  • Pre- and postmenopausal women are considered to have a high risk of ovarian cancer if they have a personal or family history of ovarian cancer, have or are suspected to have BRCA1 or BRCA2 genetic mutations, or have an elevated CA-125 level (antigen 125-a protein elevated in cancer tumor cells) as measured by a blood test. (medscape.com)
  • Kinact: a computational approach for predicting activating missense mutations in protein kinases. (lu.se)
  • Kin-Driver: a database of driver mutations in protein kinases. (lu.se)
  • wKinMut: an integrated tool for the analysis and interpretation of mutations in human protein kinases. (lu.se)
  • Aug. 13, 2021 The initials BRCA2 may be best known for a gene associated with many cases of breast cancer, and the protein encoded by the BRCA2 gene is critical to repairing breaks in DNA. (sciencedaily.com)
  • Protein likelihood ratios are computed for 229 unclassified variants found in individuals from high-risk breast/ovarian cancer families. (elsevierpure.com)
  • We map the variants onto a protein structure model, and suggest that a cluster of predicted deleterious variants in the BRCA2 OB1 domain may destabilize BRCA2 and a protein binding partner, the small acidic protein DSS1. (elsevierpure.com)
  • 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)
  • Treatment decisions following genetic testing classified as a BRCA1 or BRCA2 variant of uncertain significance are based on probabilistic models, not specific risk associated with a patient's particular variant or variants. (yale.edu)
  • Although previously identified breast cancer susceptibility variants have been shown to be associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers, the involvement of these SNPs to breast cancer susceptibility in mutation carriers is currently unknown. (elsevierpure.com)
  • Purpose: Germline genetic testing for BRCA1 and BRCA2 variants has been a part of clinical practice for >2 decades. (hunimed.eu)
  • However, no studies have compared the cancer risks associated with missense pathogenic variants (PVs) with those associated with protein truncating (PTC) variants. (hunimed.eu)
  • We analyzed 324 pedigrees with PTC variants in BRCA1 and 214 pedigrees with PTC variants in BRCA2. (hunimed.eu)
  • 005). In case of BRCA2, for women aged >50 years, the HR was 3.9 (2.0-7.2) for those heterozygous for missense PVs compared with 7.0 (3.3-14.7) for those harboring PTC variants. (hunimed.eu)
  • Pathogenic and neutral variants for 82 proteins used to compare generic and protein specific predictors. (lu.se)
  • Corrigendum: Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer. (who.int)
  • Furthermore, the study's gene variants are more often in non-protein-coding regions of a gene. (lu.se)
  • Some neoplasm proteins are tumor antigens (ANTIGENS, NEOPLASM), i.e. they induce an immune reaction to their tumor. (lookformedical.com)
  • 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. (lookformedical.com)
  • 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)
  • These BRCA-characterized samples are excellent reference tissues for scientists in the oncology field who are studying pathways related to BRCA1 and BRCA2. (biochain.com)
  • A mutation in either BRCA results in these proteins not functioning correctly. (ahdbonline.com)
  • Arguably the most famous DNA repair proteins, BRCA1 and BRCA2, were first discovered to be active in breast tissue, hence the moniker "breast cancer type 1/2 susceptibility," or BRCA. (biotechprimer.com)
  • Breast cancer susceptibility gene (BRCA), including BRCA1 and BRCA2, are involved in the homologous recombination repair of DNA double-strand breaks [ 1 , 2 ]. (biomedcentral.com)
  • The localization of RAD51 to the DNA double-strand break requires the formation of the BRCA1-PALB2-BRCA2 complex. (wikipedia.org)
  • PALB2 (Partner and localizer of BRCA2) can function synergistically with a BRCA2 chimera (termed piccolo, or piBRCA2) to further promote strand invasion. (wikipedia.org)
  • Las mutaciones en el gen PALB2 se asocian al grupo de complementación N de la ANEMIA DE FANCONI, NEOPLASIAS PANCREÁTICAS de tipo 3 y a susceptibilidad al CÁNCER DE MAMA. (bvsalud.org)
  • BRCA2 binds the single strand DNA and directly interacts with the recombinase RAD51 to stimulate and maintain strand invasion, a vital step of homologous recombination. (wikipedia.org)
  • This gene encodes a member of the RecA/Rad51-related protein family that participates in homologous recombination to maintain chromosome stability and repair DNA damage. (cancerindex.org)
  • Surprisingly, despite anticipated defects in DNA binding or RAD51-mediated DNA strand exchange, the BRCA2 R3052W protein mislocalizes to the cytoplasm precluding its ability to perform any DNA repair functions. (frontiersin.org)
  • By mechanism, DNA annealing proteins are divided into ATPases capable of strand invasion (RecA, RAD51) and single strand annealing proteins (SSAPs) that do not utilize ATP 4 . (nature.com)
  • In the 1970s, scientists discovered a protein, called RecA in bacteria and Rad51 in humans, which binds to the single-stranded DNA, forms an extensive filament and guides it to the right place in the chromosome. (materialstoday.com)
  • BRCA2, it turns out, loads Rad51 - the human equivalent of RecA in bacteria - onto DNA to search the human DNA for the correct region to use for repair. (materialstoday.com)
  • These data extend our previous findings that breastfeeding protects against BRCA1-, but not BRCA2-associated breast cancer. (nih.gov)
  • 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. (lookformedical.com)
  • 2) the relationship between bioinformatics "predictors" (sequence conservation, protein structure) and cancer susceptibility is not understood. (elsevierpure.com)
  • We apply the method to a tumor suppressor gene, BRCA2, whose loss of function is important to cancer susceptibility. (elsevierpure.com)
  • its protein, also called by the synonym breast cancer type 2 susceptibility protein, is responsible for repairing DNA. (wikipedia.org)
  • Certain variations of the BRCA2 gene increase risks for breast cancer as part of a hereditary breast-ovarian cancer syndrome. (wikipedia.org)
  • Women having inherited a defective BRCA1 or BRCA2 gene have risks for breast and ovarian cancer that are so high and seem so selective that many mutation carriers choose to have prophylactic surgery. (wikipedia.org)
  • Major determinants of where BRCA1- and BRCA2-associated hereditary cancers occur are related to tissue specificity of the cancer pathogen, the agent that causes chronic inflammation, or the carcinogen. (wikipedia.org)
  • Anant said they found RBM3 protein in every stage of many cancers, and the amount of protein increased as the cancer grew. (sciencedaily.com)
  • The protein helped the cancer grow faster, avoid cell death and was part of the process that formed new blood vessels to feed the tumor. (sciencedaily.com)
  • Researchers have now investigated the protein eIF4A3 and its role in the growth of cancer cells. (sciencedaily.com)
  • They also discuss how these proteins and pathways are strictly regulated to avoid genomic instability, which can lead to diseases such as cancer, and how they are coordinated with other nuclear processes (e.g., transcription and DNA replication). (cshlpress.com)
  • We're examining BRCA1 and BRCA2 to understand the progression of cancer at the most fundamental level," said Dr. Ryan Jensen, Associate Professor of Therapeutic Radiology at Yale Medical School. (yale.edu)
  • A group of scientists led by Michael Stratton at the University of Cambridge identified the BRCA2 (breast cancer susceptibility gene 2) gene in 1994. (yale.edu)
  • Breast Cancer Type 2 susceptibility protein (BRCA2) is a tumor-suppressor protein reported to be involved in double-strand break repair, homologous recombination and S-phase checkpoint activation. (thermofisher.com)
  • Defects in some proteins associated with DNA repair are associated with an increased risk of cancer - for example BRCA2, the breast cancer gene. (materialstoday.com)
  • Kowalczykowski's lab was also one of two UC Davis groups to purify the protein made by the BRCA2 gene, strongly associated with breast cancer. (materialstoday.com)
  • Intracellular location of BRCA2 protein expression and prostate cancer progression in the Swedish Watchful Waiting Cohort. (umassmed.edu)
  • Some tumours, such as breast cancer, grow because the BRCA2 protein inside a cell in our body is defective, thus causing insufficient DNA repair. (centenary.org.au)
  • The team has developed two prostate cancer vaccines, which activate the immune system against two prostate cancer associated proteins - the androgen receptor (AR), and prostatic acid phosphatase (PAP). (pcf.org)
  • SNP rs11249433 (1p11.2) was associated with the risk of breast cancer for BRCA2 mutation carriers (HR = 1.09, 95% CI: 1.02-1.17, P-trend = 0.015), but was not associated with breast cancer risk for BRCA1 mutation carriers (HR = 0.97, 95% CI: 0.92-1.02, P-trend = 0.20). (elsevierpure.com)
  • SNP rs999737 (RAD51L1) was not associated with breast cancer risk for either BRCA1 or BRCA2 mutation carriers (P-trend = 0.27 and 0.30, respectively). (elsevierpure.com)
  • Oral Contraceptive Use in BRCA1 and BRCA2 Mutation Carriers: Absolute Cancer Risks and Benefits. (cam.ac.uk)
  • CONCLUSION: Although COCP use in BRCA1 and BRCA2 mutation carriers initially increases breast, ovarian, and endometrial cancer risk, it strongly decreases lifetime cancer risk. (cam.ac.uk)
  • 2 Furthermore, a large study conducted in 2017 estimated that approximately 72% of women who inherit a BRCA2 mutation and approximately 69% of women who inherit a harmful BRCA1 mutation will have breast cancer by the age of 80 years. (ahdbonline.com)
  • By stopping the PARP1 repair pathway in cells already deficient in BRCA1/ BRCA2-mediated repair, cancer cells become highly vulnerable to DNA damage. (biotechprimer.com)
  • Using an extensive array of molecular tools, the team determined how CPP interacts with other DNA repair proteins and enables PARP inhibitors to kill breast cancer cells-it prevents the formation of what is known as a 3' overhang in the broken DNA, which would otherwise initiate a DNA repair process that circumvents the action of PARP inhibitors. (bcrf.org)
  • A rare truncating BRCA2 variant and genetic susceptibility to upper aerodigestive tract cancer. (who.int)
  • By repairing DNA, these proteins play a role in maintaining the stability of the human genome and prevent dangerous gene rearrangements that can lead to hematologic and other cancers. (wikipedia.org)
  • In cancers, low oxygen levels in the tumors cause the amount of this protein to go up dramatically. (sciencedaily.com)
  • The next step for Anant, Dr. Courtney Houchen and their research team at the OU Health Sciences Center is to develop agents that block the protein function in a variety of cancers. (sciencedaily.com)
  • June 5, 2019 About 20% of breast cancers make abnormally high levels of a protein called human epidermal growth factor receptor 2 (HER2). (sciencedaily.com)
  • Heat-induced BRCA2 degradation in human tumours provides rationale for hyperthermia-PARP-inhibitor combination therapies. (openrepository.com)
  • HRDetect was trained using machine learning methods to identify tumours that had BRCA1 or BRCA2 genetic defects. (thenakedscientists.com)
  • So we can see the patterns, and the patterns look identical to BRCA1 or BRCA2 tumours, but we can't find the genetic defect. (thenakedscientists.com)
  • Serena - For those women who have tumours that look like the BRCA1 and BRCA2 tumours, currently they're not getting the same treatments. (thenakedscientists.com)
  • BRCA2 suppresses tumours by enhancing DNA repair," said Professor Mark Gorrell, Head of the Liver Enzymes in Metabolism and Inflammation Program at the Centenary Institute and collaborating author on the research paper. (centenary.org.au)
  • The BRCA2 gene is located on the long (q) arm of chromosome 13 at position 12.3 (13q12.3). (wikipedia.org)
  • Generation of an integrated transcription map of the BRCA2 region on chromosome 13q12-q13. (nih.gov)
  • We compare our predictions with variant "re-classifications" provided by Myriad Genetics, a biotechnology company that holds the patent on BRCA2 genetic testing in the U.S., and with classifications made by an established medical genetics model [1]. (elsevierpure.com)
  • These proteins ensure the stability of each cell's genetic material and help to repair damaged DNA. (ahdbonline.com)
  • The approach described here is generalizable to regions of any tumor suppressor gene that have been structurally determined by X-ray crystallography or for which a protein homology model can be built. (elsevierpure.com)
  • BRCA2 regulates homologous recombination in response to DNA damage: implications for genome stability and carcinogenesis. (openrepository.com)
  • Published in the prestigious journal EMBO Reports , the researchers found that the DPP9 enzyme regulates a protein known as BRCA2, a well-known suppressor of tumour growth. (centenary.org.au)
  • To address this, we genotyped these SNPs in BRCA1 and BRCA2 mutation carriers from 42 studies from the Consortium of Investigators of Modifiers of BRCA1/2. (elsevierpure.com)
  • HR = 1.28, 95% CI: 1.18-1.40, P-trend = 1.3 × 10(-8) for rs9397435], but only rs9397435 was associated with the risk for BRCA2 carriers (HR = 1.14, 95% CI: 1.01-1.28, P-trend = 0.031). (elsevierpure.com)
  • The BRCA2 germline missense variant, R3052W, resides in the DNA binding domain and has been previously classified as a pathogenic allele. (frontiersin.org)
  • Researchers believe that the defective BRCA2 protein is unable to fix DNA damage that occurs throughout the genome. (wikipedia.org)
  • In this study, we sought to determine how R3052W alters the cellular functions of BRCA2 in the DNA damage response. (frontiersin.org)
  • Overexpression of R3052W in DLD1 parental BRCA2 wild-type cells confers sensitivity to MMC DNA damage. (frontiersin.org)
  • Currently, her projects mainly focus on studying BRCA2 and Tel1 related protein-protein interactions involved in DNA damage response pathway, using Cryo-EM and other biophysics methods. (imperial.ac.uk)
  • He aims to further understand which regions of the BRCA1 and BRCA2 proteins are essential for repairing DNA damage and preventing tumour formation. (againstbreastcancer.org.uk)
  • Dipeptidyl peptidase 9 triggers BRCA2 degradation and promotes DNA damage repair. (centenary.org.au)
  • DNA repair proteins find and fix different types of DNA damage. (biotechprimer.com)
  • If DNA damage exceeds a threshold amount (beyond which repair is possible), a protein called p53 triggers cell death-also known as apoptosis. (biotechprimer.com)
  • If these repair proteins are non-functional, the cells in which they would normally do their job are prone to sustaining DNA damage at a much higher rate than normal. (biotechprimer.com)
  • The contributors examine the dozens of proteins that are involved in recombinational repair and the various pathways in which they are employed (e.g., gene conversion or break-induced replication). (cshlpress.com)
  • Hyperthermia adds to trabectedin effectiveness and thermal enhancement is associated with BRCA2 degradation and impairment of DNA homologous recombination repair. (openrepository.com)
  • The human reference BRCA2 gene contains 27 exons, and the cDNA has 10,254 base pairs coding for a protein of 3418 amino acids. (wikipedia.org)
  • (B) Western blot of total cellular lysates from DLD-1 BRCA2 −/− cells stably transfected with full-length BRCA2 cDNA constructs: BRCA2 Wild Type (WT) and BRCA2 R3052W (1 and 2 correspond to two independent clones). (frontiersin.org)
  • (F) Western blot of total cellular lysates from DLD-1 parental cells (these cells express a wild-type allele of BRCA2) stably transfected with R3052W (3 and 5 correspond to two independent clones) full-length 2XMBP-BRCA2 cDNA constructs. (frontiersin.org)
  • It encodes a large nuclear protein that is a component of DNA repair pathways. (lookformedical.com)
  • The BRCA2 protein is an essential component of DNA repair pathways, suppressing the formation of gross chromosomal rearrangements. (lookformedical.com)
  • It encodes a large, nuclear protein that is an essential component of DNA repair pathways, suppressing the formation of gross chromosomal rearrangements. (lookformedical.com)
  • Methodology/Principal Findings: We present a computational method that produces a probabilistic likelihood ratio predictive of whether a missense variant impairs protein function. (elsevierpure.com)
  • Aug. 5, 2021 For a cell to grow and divide, it needs to produce new proteins. (sciencedaily.com)
  • Also, they share a similar protein architecture based on an N-terminal ssDNA binding domain of ~180 amino acids and a C-terminal extension that in the case of RAD52 is required for homologous recombination (HR) through specific protein-protein interactions 6 . (nature.com)
  • A recombinant fusion protein containing a sequence corresponding to amino acids 2800-3050 of human BRCA2. (thermofisher.com)
  • Classification of amino acid substitutions in mismatch repair proteins using PON-MMR2. (lu.se)
  • The Complementarity Between Protein-Specific and General Pathogenicity Predictors for Amino Acid Substitutions. (lu.se)
  • BRCA2 nuclear localization and export sequences are listed. (frontiersin.org)
  • Poly(ADP-ribose) polymerase-1 (PARP-1) is an abundant and ubiquitous nuclear protein that uses NAD + to synthesize a multibranched polyanion composed of ADP-ribose moieties, giving rise to poly(ADP-ribose) (PAR), onto itself or a variety of target proteins. (nature.com)
  • system_update_alt데이터시트system_update_alt안전 데이터시트Overview 개요Product Name:Human TIP49A ELISA KitProduct Code:HUFI01923Size:96 AssaysAlias:RUVBL1, TIP49a, Pontin 52, Nuclear matrix protein 238, NMP 238, INO80 complex subunit H, TIP60-associated protein. (assaygenie.kr)
  • We find that BRCA2 degradation is evolutionarily conserved, that BRCA2 stability is dependent on HSP90, that ubiquitin might not be involved in directly targeting BRCA2 for protein degradation via the proteasome, and that BRCA2 degradation might be modulated by oxidative stress and radical scavengers. (openrepository.com)
  • Several PAR-binding modules orchestrate the relocation of DDR-associated factors in addition to the accumulation of intrinsically disordered proteins through an intracellular liquid demixing mechanism 11 , 12 . (nature.com)
  • We conducted a case-control study of 1,665 pairs of women with a deleterious mutation in either BRCA1 (n = 1,243 pairs) or BRCA2 (n = 422 pairs). (nih.gov)
  • On the mechanism of hyperthermia-induced BRCA2 protein degradation. (openrepository.com)
  • Hyperthermia is an example of such a treatment-it inhibits a sub-pathway of the DDR, called homologous recombination (HR). It does so by inducing proteasomal degradation of BRCA2 -one of the key HR factors. (openrepository.com)
  • Understanding the precise mechanism that mediates this degradation is important for our understanding of how hyperthermia affects therapy and how homologous recombination and BRCA2 itself function. (openrepository.com)
  • In addition, mechanistic insight into the process of hyperthermia-induced BRCA2 degradation can yield new therapeutic strategies to enhance the effects of local hyperthermia or to inhibit HR. Here, we investigate the mechanisms driving hyperthermia-induced BRCA2 degradation. (openrepository.com)
  • Replication fork reversal triggers fork degradation in BRCA2-defective cells. (openrepository.com)
  • The BRCA2 R3052W mutated protein exacerbates genome instability, is unable to rescue homology-directed repair, and fails to complement cell survival following exposure to PARP inhibitors and crosslinking drugs. (frontiersin.org)
  • We present a fast, scalable bioinformatics method that integrates information about protein sequence, conservation, and structure in a likelihood ratio that can be integrated with medical genetics likelihood ratios. (elsevierpure.com)
  • The protein likelihood ratio, together with medical genetics likelihood ratios, can be used by clinicians and counselors to communicate the relevance of a VUS to the individual who has that VUS. (elsevierpure.com)
  • Proteins whose abnormal expression (gain or loss) are associated with the development, growth, or progression of NEOPLASMS. (lookformedical.com)
  • 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. (lookformedical.com)
  • One alternative symbol, FANCD1, recognizes its association with the FANC protein complex. (wikipedia.org)
  • They are weak ssDNA binding proteins with no affinity for double-stranded (ds) DNA. (nature.com)
  • Protein interactions of the transcription factor Hoxa1. (nih.gov)
  • He is working on developing a workflow for prototyping proteins using cell-free systems and machine learning. (imperial.ac.uk)
  • The BRCA2 R3052W mutation fails to complement chemotherapeutic sensitivity and homology-directed repair functions in BRCA2 knockout cells. (frontiersin.org)
  • In this respect, in contrast to predictors based for each serum protein was determined by comparing the samples upon tumor characteristics at the time of surgery, serum is a par- collected at the primary operation and then 3-6 mo later. (lu.se)
  • HRDetect is trained to identify those patterns and tell you what the likelihood is of any tumour having a BRCA1 or BRCA2 type of defect. (thenakedscientists.com)