Brca2 protein. Medical search

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.

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)

There are different types of Breast Neoplasms such as:

1. Fibroadenomas: These are benign tumors that are made up of glandular and fibrous tissues. They are usually small and round, with a smooth surface, and can be moved easily under the skin.

2. Cysts: These are fluid-filled sacs that can develop in both breast tissue and milk ducts. They are usually benign and can disappear on their own or be drained surgically.

3. Ductal Carcinoma In Situ (DCIS): This is a precancerous condition where abnormal cells grow inside the milk ducts. If left untreated, it can progress to invasive breast cancer.

4. Invasive Ductal Carcinoma (IDC): This is the most common type of breast cancer and starts in the milk ducts but grows out of them and invades surrounding tissue.

5. Invasive Lobular Carcinoma (ILC): It originates in the milk-producing glands (lobules) and grows out of them, invading nearby tissue.

Breast Neoplasms can cause various symptoms such as a lump or thickening in the breast or underarm area, skin changes like redness or dimpling, change in size or shape of one or both breasts, discharge from the nipple, and changes in the texture or color of the skin.

Treatment options for Breast Neoplasms may include surgery such as lumpectomy, mastectomy, or breast-conserving surgery, radiation therapy which uses high-energy beams to kill cancer cells, chemotherapy using drugs to kill cancer cells, targeted therapy which uses drugs or other substances to identify and attack cancer cells while minimizing harm to normal cells, hormone therapy, immunotherapy, and clinical trials.

It is important to note that not all Breast Neoplasms are cancerous; some are benign (non-cancerous) tumors that do not spread or grow.

Benign ovarian neoplasms include:

1. Serous cystadenoma: A fluid-filled sac that develops on the surface of the ovary.
2. Mucinous cystadenoma: A tumor that is filled with mucin, a type of protein.
3. Endometrioid tumors: Tumors that are similar to endometrial tissue (the lining of the uterus).
4. Theca cell tumors: Tumors that develop in the supportive tissue of the ovary called theca cells.

Malignant ovarian neoplasms include:

1. Epithelial ovarian cancer (EOC): The most common type of ovarian cancer, which arises from the surface epithelium of the ovary.
2. Germ cell tumors: Tumors that develop from germ cells, which are the cells that give rise to eggs.
3. Stromal sarcomas: Tumors that develop in the supportive tissue of the ovary.

Ovarian neoplasms can cause symptoms such as pelvic pain, abnormal bleeding, and abdominal swelling. They can also be detected through pelvic examination, imaging tests such as ultrasound and CT scan, and biopsy. Treatment options for ovarian neoplasms depend on the type, stage, and location of the tumor, and may include surgery, chemotherapy, and radiation therapy.

Explanation: Genetic predisposition to disease is influenced by multiple factors, including the presence of inherited genetic mutations or variations, environmental factors, and lifestyle choices. The likelihood of developing a particular disease can be increased by inherited genetic mutations that affect the functioning of specific genes or biological pathways. For example, inherited mutations in the BRCA1 and BRCA2 genes increase the risk of developing breast and ovarian cancer.

The expression of genetic predisposition to disease can vary widely, and not all individuals with a genetic predisposition will develop the disease. Additionally, many factors can influence the likelihood of developing a particular disease, such as environmental exposures, lifestyle choices, and other health conditions.

Inheritance patterns: Genetic predisposition to disease can be inherited in an autosomal dominant, autosomal recessive, or multifactorial pattern, depending on the specific disease and the genetic mutations involved. Autosomal dominant inheritance means that a single copy of the mutated gene is enough to cause the disease, while autosomal recessive inheritance requires two copies of the mutated gene. Multifactorial inheritance involves multiple genes and environmental factors contributing to the development of the disease.

Examples of diseases with a known genetic predisposition:

1. Huntington's disease: An autosomal dominant disorder caused by an expansion of a CAG repeat in the Huntingtin gene, leading to progressive neurodegeneration and cognitive decline.
2. Cystic fibrosis: An autosomal recessive disorder caused by mutations in the CFTR gene, leading to respiratory and digestive problems.
3. BRCA1/2-related breast and ovarian cancer: An inherited increased risk of developing breast and ovarian cancer due to mutations in the BRCA1 or BRCA2 genes.
4. Sickle cell anemia: An autosomal recessive disorder caused by a point mutation in the HBB gene, leading to defective hemoglobin production and red blood cell sickling.
5. Type 1 diabetes: An autoimmune disease caused by a combination of genetic and environmental factors, including multiple genes in the HLA complex.

Understanding the genetic basis of disease can help with early detection, prevention, and treatment. For example, genetic testing can identify individuals who are at risk for certain diseases, allowing for earlier intervention and preventive measures. Additionally, understanding the genetic basis of a disease can inform the development of targeted therapies and personalized medicine."

Causes:

* Genetic mutations
* Hormonal imbalance
* Use of certain medications
* Alcohol consumption
* Obesity

Symptoms:

* Swelling or lumps in the breast tissue
* Pain or tenderness in the breasts
* Nipple discharge
* Skin dimpling or puckering

Diagnosis:

* Physical examination
* Mammography (breast X-ray)
* Ultrasound imaging
* Biopsy (removing a small sample of tissue for examination under a microscope)

Treatment depends on the type and stage of the cancer, but may include:

* Surgery to remove the tumor and surrounding tissue
* Radiation therapy (using high-energy X-rays to kill cancer cells)
* Chemotherapy (using drugs to kill cancer cells)

Prognosis is generally good if the cancer is detected early, but it can be challenging to diagnose due to the rarity of breast cancer in men and the similarity of symptoms to other conditions.

The hallmark of HNS is the presence of multiple types of cancer, often at an early age and in multiple organs. The most common types of cancer associated with HNS are breast, ovarian, colon, stomach, pancreatic, brain, and skin cancers.

There are several different types of HNS, each caused by a mutation in a specific gene. These include:

1. Familial Adenomatous Polyposis (FAP): This is the most common type of HNS and is caused by a mutation in the APC gene. It is characterized by hundreds or thousands of adenomatous polyps (small growths) in the colon, which can become malignant over time.
2. Turcot Syndrome: This rare disorder is caused by a mutation in the APC gene and is characterized by the development of numerous polyps in the colon, as well as other physical features such as short stature, intellectual disability, and facial dysmorphism.
3. Hereditary Diffuse Gastric Cancer (HDGC): This syndrome is caused by a mutation in the CDH1 gene and is characterized by the development of diffuse gastric cancer, which is a type of stomach cancer that spreads throughout the stomach.
4. Peutz-Jeghers Syndrome (PJS): This rare disorder is caused by a mutation in the STK11 gene and is characterized by the development of polyps in the gastrointestinal tract, as well as other physical features such as pigmented macules on the skin and mucous membranes.
5. Li-Fraumeni Syndrome (LFS): This rare disorder is caused by a mutation in the TP53 gene and is characterized by an increased risk of developing several types of cancer, including breast, ovarian, and soft tissue sarcomas.

There are several other rare genetic disorders that can increase the risk of developing gastric cancer, including:

1. Hereditary Gastric Precancerous Condition (HGPC): This rare disorder is caused by a mutation in the E-cadherin gene and is characterized by the development of precancerous lesions in the stomach.
2. Familial Adenomatous Polyposis (FAP): This rare disorder is caused by a mutation in the APC gene and is characterized by the development of hundreds or thousands of colon polyps, as well as an increased risk of developing gastric cancer.
3. Turcot Syndrome: This rare disorder is caused by a mutation in the APC gene and is characterized by the development of colon polyps, as well as other physical features such as intellectual disability and facial dysmorphism.
4. MEN1 Syndrome: This rare disorder is caused by a mutation in the MEN1 gene and is characterized by an increased risk of developing multiple endocrine neoplasia, which can include gastric cancer.
5. Cowden Syndrome: This rare disorder is caused by a mutation in the PTEN gene and is characterized by an increased risk of developing various types of cancer, including gastric cancer.
6. Li-Fraumeni Syndrome: This rare disorder is caused by a mutation in the TP53 gene and is characterized by an increased risk of developing various types of cancer, including gastric cancer.

It's important to note that not all individuals with these genetic disorders will develop gastric cancer, and many other factors can contribute to the development of this disease. If you have a family history of gastric cancer or one of these rare genetic disorders, it's important to discuss your risk with a qualified healthcare professional and follow any recommended screening or prevention strategies.

Benign fallopian tube neoplasms include:

* Serous cystadenomas: These are fluid-filled sacs that grow on the lining of the fallopian tube. They are usually small and do not spread to other parts of the body.
* Mucinous cystadenomas: These are similar to serous cystadenomas, but they contain a thick, mucous-like fluid.
* Adenomas: These are small, glandular tumors that grow on the lining of the fallopian tube. They are usually benign but can sometimes become cancerous over time.

Malignant fallopian tube neoplasms include:

* Fallopian tube carcinoma: This is a rare form of cancer that originates in the fallopian tube. It can be either serous or endometrioid type, depending on the type of cells involved.
* Endometrial adenocarcinoma: This is a type of cancer that originates in the lining of the uterus (endometrium) and can also involve the fallopian tubes.

The symptoms of fallopian tube neoplasms can vary depending on their size, location, and type. Some common symptoms include:

* Abnormal vaginal bleeding
* Pelvic pain or discomfort
* Abdominal pain or swelling
* Difficulty urinating or defecating
* Weakness or fatigue

The diagnosis of fallopian tube neoplasms is based on a combination of imaging studies, such as ultrasound and computed tomography (CT) scans, and tissue sampling, such as biopsy or surgical removal of the tumor. Treatment options for fallopian tube neoplasms depend on the type, size, and location of the tumor, as well as the patient's age, overall health, and fertility status.

Treatment options for fallopian tube neoplasms can include:

* Surgical removal of the tumor: This is the most common treatment for fallopian tube neoplasms, and it involves removing the affected fallopian tube and any other affected tissues.
* Chemotherapy: This is a treatment that uses drugs to kill cancer cells, and it may be used in combination with surgery or as a standalone treatment for more advanced cancers.
* Radiation therapy: This is a treatment that uses high-energy rays to kill cancer cells, and it may be used in combination with surgery or chemotherapy.
* Hysterectomy: This is a surgical removal of the uterus, and it may be recommended for more advanced cancers that have spread beyond the fallopian tubes.
* Conservative management: In some cases, small, non-invasive tumors may be monitored with regular check-ups and imaging studies rather than undergoing immediate treatment.

The prognosis for fallopian tube neoplasms depends on several factors, including the type and stage of the cancer, the patient's age and overall health, and the effectiveness of the treatment. In general, the prognosis is good for women with early-stage tumors that are treated successfully, but the prognosis is poorer for women with more advanced cancers.

There are several types of genomic instability, including:

1. Chromosomal instability (CIN): This refers to changes in the number or structure of chromosomes, such as aneuploidy (having an abnormal number of chromosomes) or translocations (the movement of genetic material between chromosomes).
2. Point mutations: These are changes in a single base pair in the DNA sequence.
3. Insertions and deletions: These are changes in the number of base pairs in the DNA sequence, resulting in the insertion or deletion of one or more base pairs.
4. Genomic rearrangements: These are changes in the structure of the genome, such as chromosomal breaks and reunions, or the movement of genetic material between chromosomes.

Genomic instability can arise from a variety of sources, including environmental factors, errors during DNA replication and repair, and genetic mutations. It is often associated with cancer, as cancer cells have high levels of genomic instability, which can lead to the development of resistance to chemotherapy and radiation therapy.

Research into genomic instability has led to a greater understanding of the mechanisms underlying cancer and other diseases, and has also spurred the development of new therapeutic strategies, such as targeted therapies and immunotherapies.

In summary, genomic instability is a key feature of cancer cells and is associated with various diseases, including cancer, neurodegenerative disorders, and aging. It can arise from a variety of sources and is the subject of ongoing research in the field of molecular biology.

... 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 ...

https://en.wikipedia.org/wiki/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 ...

https://en.wikipedia.org/wiki/BCCIP

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 ...

https://en.wikipedia.org/wiki/RAD51

... 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 ...

https://en.wikipedia.org/wiki/Michael_Stratton

"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; ...

https://en.wikipedia.org/wiki/Institute_of_Cancer_Research

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 ...

https://en.wikipedia.org/wiki/BRCA1

"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. ...

https://en.wikipedia.org/wiki/Alan_Ashworth

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. ...

https://en.wikipedia.org/wiki/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 ...

https://en.wikipedia.org/wiki/FANCG

... 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, ...

https://en.wikipedia.org/wiki/PCID2

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 ...

https://en.wikipedia.org/wiki/PALB2

Wang C, McCarty IM, Balazs L, Li Y, Steiner MS (July 2002). "Cloning a cDNA encoding an alternatively spliced protein of BRCA2- ... Lee YM, Kim W (September 2003). "Association of human kinesin superfamily protein member 4 with BRCA2-associated factor 35". ... Lee YM, Kim W (September 2003). "Association of human kinesin superfamily protein member 4 with BRCA2-associated factor 35". ... "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173-8. Bibcode:2005Natur. ...

https://en.wikipedia.org/wiki/HMG20B

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". ... Sekine Y, Okada Y, Noda Y, Kondo S, Aizawa H, Takemura R, Hirokawa N (October 1994). "A novel microtubule-based motor protein ( ... Chromosome-associated kinesin KIF4A is a protein that in humans is encoded by the KIF4A gene. Kinesins, such as KIF4A, are ...

https://en.wikipedia.org/wiki/KIF4A

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 ...

https://en.wikipedia.org/wiki/PARP_inhibitor

... 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. ...

https://en.wikipedia.org/wiki/Bing_Xia

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- ...

https://en.wikipedia.org/wiki/Ashok_Venkitaraman

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 ...

https://en.wikipedia.org/wiki/DNA_repair_and_recombination_protein_RAD54-like

"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 ...

https://en.wikipedia.org/wiki/SNAI2

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 ...

https://en.wikipedia.org/wiki/Double-strand_break_repair_model

"Interaction between BRCA2 and replication protein A is compromised by a cancer-predisposing mutation in BRCA2". Oncogene. 22 (1 ... Replication protein A Replication protein A2 Replication protein A3 Single-stranded binding protein GRCh38: Ensembl release 89 ... Replication protein A 70 kDa DNA-binding subunit is a protein that in humans is encoded by the RPA1 gene. Replication protein ... Amacker M, Hottiger M, Mossi R, Hübscher U (1997). "HIV-1 nucleocapsid protein and replication protein A influence the strand ...

https://en.wikipedia.org/wiki/Replication_protein_A1

June 2007). "Loss of nuclear BRCA1 protein staining in normal tissue cells derived from BRCA1 and BRCA2 mutation carriers". ... Abnormal expression of other BRCA1 related proteins such as Fanconi protein, Bloom syndrome protein, Rad50 can also be the ... The basal-like carcinoma is a recently proposed subtype of breast cancer defined by its gene expression and protein expression ... Although the molecular biology mechanisms for BRCA1 and BRCA2 are not understood very well, more and more evidence shows that ...

https://en.wikipedia.org/wiki/Basal-like_carcinoma

Milner was a postdoctoral researcher studying the newly discovered breast cancer protein BRCA2 in Kouzarides' Cambridge ... It supplies antibody related products such as immunoassays (e.g. SimpleStep ELISA Kits), peptides, proteins and protein ... Abcam is a producer, distributor and seller of protein research tools. The company was founded in 1998 by Jonathan Milner with ... United Kingdom that provided high-quality biochemical products that modulate the function of proteins for use in life science ...

https://en.wikipedia.org/wiki/Abcam

... 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 ...

https://en.wikipedia.org/wiki/DHX32

"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: ...

https://en.wikipedia.org/wiki/SHFM1

... 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, ...

https://en.wikipedia.org/wiki/B._J._Rao

Siddique H, Rao VN, Reddy ES (August 2009). "CBP-mediated post-translational N-glycosylation of BRCA2". International Journal ... Cyclic adenosine monophosphate Response Element Binding protein Binding Protein (CREB-binding protein), also known as CREBBP or ... Response Element-Binding Protein (CREB)-Binding Protein] Research Using Computational Techniques". The Protein Journal. 40 (1 ... CBP does not directly interact with promoter elements; it is brought to the site via protein-protein interactions that are the ...

https://en.wikipedia.org/wiki/CREB-binding_protein

... 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 ...

https://en.wikipedia.org/wiki/Kum_Kum_Khanna

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 ...

https://en.wikipedia.org/wiki/Cancer_biomarker

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 ...

https://en.wikipedia.org/wiki/Leishmania_infantum

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 ...

https://en.wikipedia.org/wiki/Fanconi_anemia

On a protein level, structure is less conserved than sequence. Therefore, in many diseases, having the faulty gene still does ... May 2003). "Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series ... Myriad Genetics is already generating revenue from genetic tests for BRCA1 and BRCA2. Aside from genetic testing, predictive ...

https://en.wikipedia.org/wiki/Predictive_medicine

Transport protein ZIP1 is responsible for the transport of zinc into prostate cells. One of zinc's important roles is to change ... Mutations in BRCA1 and BRCA2 (important risk factors for ovarian cancer and breast cancer in women) have also been implicated. ... May 1997). "The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews". The New England ... Ford OH, Gregory CW, Kim D, Smitherman AB, Mohler JL (November 2003). "Androgen receptor gene amplification and protein ...

https://en.wikipedia.org/wiki/Prostate_cancer

Protein synthesis and protein degradation decline with age in skeletal and heart muscle, as would be expected, since DNA damage ... BRCA1 and BRCA2 are homologous recombination repair genes. The role of declining ATM-Mediated DNA double strand DNA break (DSB ... found numerous changes in protein expression in rat skeletal muscle with age, including lower levels of several proteins ... Cai Q, Fu L, Wang Z, Gan N, Dai X, Wang Y (2014). "α-N-methylation of damaged DNA-binding protein 2 (DDB2) and its function in ...

https://en.wikipedia.org/wiki/DNA_damage_theory_of_aging

... miRNAs do not code for proteins, but can "target" protein-coding genes and reduce their expression. Cancers usually arise from ... Some of these syndromes include: certain inherited mutations in the genes BRCA1 and BRCA2 with a more than 75% risk of breast ... "Negative regulation of BRCA1 gene expression by HMGA1 proteins accounts for the reduced BRCA1 protein levels in sporadic breast ... An average cancer of the breast or colon can have about 60 to 70 protein-altering mutations, of which about three or four may ...

https://en.wikipedia.org/wiki/Cancer

During the investigation for a KWE candidate gene in this same region, twelve protein transcripts were evaluated between ... "Chromosome 8p alterations in sporadic and BRCA2 999del5 linked breast cancer". Journal of Medical Genetics. 37 (5): 342-347. ...

https://en.wikipedia.org/wiki/Keratolytic_winter_erythema

BRCA1 and BRCA2 polymorphic variants can increase the risk of breast cancer, and these cancers tend to express a pr ofile of ... HER2-low has some HER2 proteins on the cell surface, but not enough to be classified as HER2-positive. Trastuzumab deruxtecan ... Jerevall PL, Jansson A, Fornander T, Skoog L, Nordenskjöld B, Stål O (2010). "Predictive relevance of HOXB13 protein expression ... Tumors overexpressing the Wnt signaling pathway co-receptor low-density lipoprotein receptor-related protein 6 (LRP6) may ...

https://en.wikipedia.org/wiki/Breast_cancer_classification

DNA repair protein RAD51 homolog 4 is a protein that in humans is encoded by the RAD51L3 gene. The protein encoded by this gene ... "Direct interaction of FANCD2 with BRCA2 in DNA damage response pathways". Hum. Mol. Genet. 13 (12): 1241-8. doi:10.1093/hmg/ ... This protein forms a complex with several other members of the RAD51 family, including RAD51L1, RAD51L2, and XRCC2. The protein ... Liu N, Schild D, Thelen MP, Thompson LH (2002). "Involvement of Rad51C in two distinct protein complexes of Rad51 paralogs in ...

https://en.wikipedia.org/wiki/RAD51L3

In E. coli , the proteins involved are the Mut class proteins: MutS, MutL, and MutH. In most Eukaryotes, the analog for MutS is ... The over-expression of RAD51 and BRCA2 seen in these cancers may reflect selective pressures for compensatory RAD51 or BRCA2 ... These proteins seem to be required for transmitting the checkpoint activation signal to downstream proteins. DNA damage ... Checkpoint Proteins can be separated into four groups: phosphatidylinositol 3-kinase (PI3K)-like protein kinase, proliferating ...

https://en.wikipedia.org/wiki/DNA_repair

The protein encoded by this gene was first identified by its ability to bind the adenovirus E1A protein. The protein localizes ... "EMSY links the BRCA2 pathway to sporadic breast and ovarian cancer". Cell. 115 (5): 523-35. doi:10.1016/s0092-8674(03)00930-9. ... Zinc finger MYND domain-containing protein 11 is a protein that in humans is encoded by the ZMYND11 gene. ... "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173-8. Bibcode:2005Natur. ...

https://en.wikipedia.org/wiki/ZMYND11

The third pocket protein, Rb, binds to and represses E2F 1, E2F 2, and E2F 3, which are the E2F proteins with activating ... BRCA2 is believed to be involved in homologous recombination and regulating the S-phase checkpoint, and mutations of ... It was additionally shown that blocking Mos protein synthesis makes the MAPK-P responses more graded, showing that Mos protein ... The latter is a protein whose function is to inhibit separase, which in turn cuts the cohesins, the protein composite ...

https://en.wikipedia.org/wiki/Cell_cycle_checkpoint

launched Evidence, the first protein Biochip Array Technology analyzer in 2003. In protein Biochip Array Technology, the ... and BRCA1 and BRCA2 (related to breast cancer). The chips are produced by using microlithography techniques traditionally used ... 467-470, 1995 G. MacBeath, A. N. Koehler, and S. L. Schreiber, "Printing small molecules as microarrays and detecting protein- ... Microarrays are not limited to DNA analysis; protein microarrays, antibody microarray, chemical compound microarray can also be ...

https://en.wikipedia.org/wiki/Biochip

BRCA2: breast cancer 2, early onset BRCA3 encoding protein Breast cancer 3 CAB39L: encoding protein Calcium-binding protein 39- ... encoding protein TSC22 domain family protein 1 UBL3: encoding protein Ubiquitin-like protein 3 WBP4: encoding protein WW domain ... encoding protein RCC1 and BTB domain-containing protein 1 RCBTB2: encoding protein RCC1 and BTB domain-containing protein 2 ... encoding protein SLIT and NTRK-like protein 5 SLITRK6: encoding protein SLIT and NTRK-like protein 6 SOX21: Transcription ...

https://en.wikipedia.org/wiki/Chromosome_13

Three of these proteins are essential in detecting the mismatch and directing repair machinery to it: MutS, MutH and MutL (MutS ... January 2015). "Expression characteristics of FHIT, p53, BRCA2 and MLH1 in families with a history of oesophageal cancer in a ... The gene products are, therefore, called the "Mut" proteins, and are the major active components of the mismatch repair system ... In humans, seven DNA mismatch repair (MMR) proteins (MLH1, MLH3, MSH2, MSH3, MSH6, PMS1 and PMS2) work coordinately in ...

https://en.wikipedia.org/wiki/DNA_mismatch_repair

Filamin A, alpha (FLNA) is a protein that in humans is encoded by the FLNA gene. Actin-binding protein, or filamin, is a 280-kD ... Filamin has been shown to interact with: BRCA2, CD29 CASR, FBLIM1, FILIP1, FLNB, NPHP1, RALA, SH2B3, TRIO, and VHL. The edited ... He X, Li Y, Schembri-King J, Jakes S, Hayashi J (August 2000). "Identification of actin binding protein, ABP-280, as a binding ... The protein structure includes an actin binding N terminal domain, 24 internal repeats and 2 hinge regions. ...

https://en.wikipedia.org/wiki/FLNA

Mutations in BRCA1 and BRCA2 result in a high risk of both breast and ovarian cancers. Mutations in p53 and PTEN increase risks ... on the amyloid cascade hypothesis has identified rare mutations in three genes that encode the amyloid precursor protein (APP ... Biallelic mutations, in which both copies of a particular gene are mutated, in BRCA2, BRIP1, and PALB2 also cause Fanconi ...

https://en.wikipedia.org/wiki/Genetic_heterogeneity

HRG Thrombophilia due to protein C deficiency, autosomal dominant; 176860; PROC Thrombophilia due to protein C deficiency, ... BRCA2 Wilms' tumor, somatic; 194070; GPC3 Wilms' tumor, type 1; 194070; WT1 Wilson's disease; 277900; ATP7B Wiskott-Aldrich ... SLITRK1 Trifunctional protein deficiency; 609015; HADHA Trifunctional protein deficiency; 609015; HADHB Trigonocephaly; 190440 ... G6PC3 D-bifunctional protein deficiency; 261515; HSD17B4 De la Chapelle dysplasia; 256050; SLC26A2 De Sanctis-Cacchione ...

https://en.wikipedia.org/wiki/List_of_OMIM_disorder_codes

High expression of the mutant p53 tumor suppressor protein has been found to be associated with poor survival rates for ... "Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2, Science, 302 (5645) (2003), pp. 643-646. ...

https://en.wikipedia.org/wiki/Gynecologic_cancer_disparities_in_the_United_States

Amongst known FANC proteins, most evidence points for a direct interaction primarily between FANCA protein and BRCA1. Evidence ... The Fanconi anaemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, ... This mechanic is also supported by the protein-protein interactions between BRG1 and both BRCA1 and FANCA, that serve to ... Gordon SM, Buchwald M (2003). "Fanconi anemia protein complex: mapping protein interactions in the yeast 2- and 3-hybrid ...

https://en.wikipedia.org/wiki/FANCA

He is one of the world's foremost experts on RecA, the defining member of a ubiquitous class of DNA strand-exchange proteins ... Jensen RB, Carreira A, Kowalczykowski SC (October 7, 2010). "Purified human BRCA2 stimulates RAD51-mediated recombination". ... where he began studying the physical chemistry of protein-nucleic interactions. He began his academic research career at ... the purification and molecular mechanism of the human breast cancer susceptibility gene BRCA2 (humans), the mechanism of the ...

https://en.wikipedia.org/wiki/Stephen_Kowalczykowski

The FANCB gene product is FANCB protein. FANCB is a component of a "core complex" of nine Fanconi Anemia proteins: FANCA, FANCB ... The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, ... Fanconi anemia group B protein is a protein that in humans is encoded by the FANCB gene. ... they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation ...

https://en.wikipedia.org/wiki/FANCB

This mutation results in a coding change in the protein (G1535D). The analysis of scabies mites collected from suspected ... been shown to be suitable in principle for the detection of mutations in the breast cancer susceptibility genes BRCA1 and BRCA2 ... which encodes the tumour suppressor protein p53 in clinical samples of breast and ovarian cancer. Both these studies ...

https://en.wikipedia.org/wiki/High_Resolution_Melt

2004). "Identification of the substrates and interaction proteins of aurora kinases from a protein-protein interaction model". ... cancer-associated BARD1beta scaffolds Aurora B and BRCA2". Cancer Research. 69 (3): 1125-34. doi:10.1158/0008-5472.CAN-08-2134 ... Aurora B has been shown to bind to end-binding protein 1 (EB1), a protein that regulates microtubule dynamics. Indirect ... including the type-III intermediate filament proteins vimentin, desmin, and glial fibrillary acidic protein (GFAP). In general ...

https://en.wikipedia.org/wiki/Aurora_kinase_B

... with BRCA2 mutations strongly associated with better clinical outcomes. A specific tumour protein 53 (TP53) expression pattern ... Additionally, overexpression of TP53 is associated with better clinical outcome whereas an absence of the p53 protein is linked ... A mutation in BRCA1 or BRCA2 can confer a lifetime ovarian cancer risk of 40-50% and 10-20% respectively, ... Prophylactic salpingo-oophorectomy is frequently performed in carriers of BRCA1 or BRCA2 mutations, although the benefits ...

https://en.wikipedia.org/wiki/High-grade_serous_carcinoma

Certain inherited mutations in the genes BRCA1 and BRCA2 with a more than 75% risk of breast cancer and ovarian cancer. Some of ... Insulin-like growth factors and their binding proteins play a key role in cancer cell growth, differentiation and apoptosis, ... BRCA2 Fanconi anemia Familial adenomatous polyposis Hereditary breast and ovarian cancer Hereditary nonpolyposis colorectal ... current understanding regarding the mechanism of cancer development in obesity relates to abnormal levels of metabolic proteins ...

https://en.wikipedia.org/wiki/Causes_of_cancer

Researchers have discovered a protein that may lead to a new way to prevent resistance and improve outcomes for patients whose ... Protein May Explain Chemo Resistance in Patients With BRCA2 Mutations. September 27, 2017 by Elisa Becze BA, ELS, Editor ... RADX is a DNA-binding protein that helps repair and ensure accuracy of DNA copies during cell division. BRCA2 mutations disrupt ... a protein that may lead to a new way to prevent resistance and improve outcomes for patients whose cancers have a BRCA2 ...

https://voice.ons.org/news-and-views/protein-may-explain-chemo-resistance-in-patients-with-brca2-mutations

The BRCA2 gene provides instructions for making a protein that acts as a tumor suppressor. Learn about this gene and related ... The BRCA2 protein is involved in repairing damaged DNA. In the nucleus of many types of normal cells, the BRCA2 protein ... Most BRCA2 gene mutations lead to the production of an abnormally small, nonfunctional version of the BRCA2 protein from one ... The BRCA2 gene provides instructions for making a protein that acts as a tumor suppressor. Tumor suppressor proteins help ...

https://medlineplus.gov/genetics/gene/brca2/

BRCA1 and BRCA2 mutations and absolute cancer risk (Updated version- 2023).jpg 1,920 × 1,197; 199 KB. ... ERBB2-in-Cat-Mammary-Neoplasias-Disclosed-a-Positive-Correlation-between-RNA-and-Protein-Low-pone.0083673.g001.jpg 714 × 355; ... BRCA1 and BRCA2 mutations and absolute cancer risk (Updated-2023).jpg 1,949 × 623; 244 KB. ... ERBB2-in-Cat-Mammary-Neoplasias-Disclosed-a-Positive-Correlation-between-RNA-and-Protein-Low-pone.0083673.g002.jpg 670 × 495; ...

https://commons.wikimedia.org/wiki/Category:Breast_cancer

Researchers discovered an unexpected way that breast cancers cells with mutant BRCA1 or BRCA2 genes become resistant to ... When a replication fork stalls, the BRCA1 and BRCA2 proteins protect the newly synthesized strands of DNA. When these proteins ... BRCA1 and BRCA2 are human proteins that help to repair damaged DNA. When either of these genes is mutated, or altered, the ... The researchers identified several proteins that actively promote destabilization of replication forks. These proteins, which ...

https://www.nih.gov/news-events/nih-research-matters/how-breast-cancers-resist-chemotherapy

The key proteins in HR, BRCA1, and BRCA2 are two important tumor suppressors. In the absence of these two proteins, the rate of ... Replication Protein A2 (RPA2), Replication Protein A3 (RPA3), and other DNA damage repair proteins, as determined by protein- ... Predicted protein-protein interaction network (DIGGER). (f) Predicted protein-protein interaction network (STRING). (g) m6A ... RB Binding Protein 8, Endonuclease (RBBP8), BRCA2 DNA Repair Associated (BRCA2), RAD51 Paralog C (RAD51C), MRE11 meiotic ...

https://www.hindawi.com/journals/jir/2022/7623654/

However, understanding BRCA2 function as a tumor suppressor is severely limited by the fact that ~70% of the encoded protein ... MeSH Terms: BRCA2 Protein/genetics*; Binding Sites; DNA Damage*; DNA Repair; DNA Replication; Fanconi Anemia Complementation ... predominantly because stable expression of the very large BRCA2 protein in cells, for experimental purposes, is challenging. ... Abstract: BRCA2 is an essential genome stability gene that has various functions in cells, including roles in homologous ...

https://tools.niehs.nih.gov/portfolio/index.cfm?do=portfolio.publicationDetail&id=4356844

BRCA2 Protein / genetics* Actions. * Search in PubMed * Search in MeSH * Add to Search ... Gastric Cancer Risk and Pathogenesis in BRCA1 and BRCA2 Carriers. Buckley KH, Niccum BA, Maxwell KN, Katona BW. Buckley KH, et ... In part A, cohorts of three to six patients, enriched for BRCA1 and BRCA2 mutation carriers, received niraparib daily at ten ... Eight (40% [95% CI 19-64]) of 20 BRCA1 or BRCA2 mutation carriers with ovarian cancer had RECIST partial responses, as did two ...

https://pubmed.ncbi.nlm.nih.gov/23810788

BRCA2 Protein / genetics Actions. * Search in PubMed * Search in MeSH * Add to Search ... Along with BRCA1 and BRCA2 (BRCA) mutations genomic loss of heterozygosity (LOH) might also represent homologous recombination ... safety of the PARP inhibitor rucaparib in patients with high-grade ovarian carcinoma and a germline or somatic BRCA1 or BRCA2 ...

https://www.ncbi.nlm.nih.gov/pubmed/27908594

... but relies on RAD52 and Cockayne Syndrome Protein B (CSB). During TC-HR, RAD52 is recruited by CSB through an acidic domain. ... However, the localization of RAD51 to damage sites during TC-HR does not require BRCA1 and BRCA2, ... We found that TC-HR requires the RAD51 recombinase but, surprisingly, not the canonical HR proteins BRCA1 and BRCA2. The ... Using fast protein liquid chromatography, RAD52 protein was eluted by a gradient of 0-2.5 M of NaSCN in T buffer. Fractions ...

https://www.nature.com/articles/s41467-018-06586-3?error=cookies_not_supported&code=ccdde434-4c8c-4177-b070-b5e68a7ef705

Lesley Murphy underwent a double mastectomy after testing positive for the BRCA2 gene mutation, which indicates an increased ... BRCA1 and BRCA2 genes create tumor-suppressing proteins and help repair damaged DNA. But when these genes are mutated, they ... Its because of her diagnosis that I underwent genetic testing…Knowledge is power. Murphy tested positive for the BRCA2 gene ... The 29-year-old underwent a double mastectomy after testing positive for the BRCA2 gene mutation, which indicates an increased ...

https://www.self.com/story/lesley-murphy-double-mastectomy

FAAP95 replaces BRCA2 as the true FANCB protein.. Fei P; Yin J; Wang W. Cell Cycle; 2005 Jan; 4(1):80-6. PubMed ID: 15611632. [ ... complementation group FANCD2 protein serine 331 phosphorylation is important for fanconi anemia pathway function and BRCA2 ... New advances in the DNA damage response network of Fanconi anemia and BRCA proteins. ...

https://pubmedhh.nlm.nih.gov/biomarkers/search.php?id=16466850&mod=related&page=1&from=&outid=&proj=

BRCA2 Protein Preferred Concept UI. M0242709. Registry Number. 0. Scope Note. A large, nuclear protein, encoded by the BRCA2 ... Fanconi Anemia Complementation Group Proteins [D12.776.313] * BRCA1 Protein [D12.776.313.125] * BRCA2 Protein [D12.776.313.249] ... Amino Acids, Peptides, and Proteins [D12] * Proteins [D12.776] * Neoplasm Proteins [D12.776.624] * Tumor Suppressor Proteins [ ... BCRA2 PROTEIN was indexed under NEOPLASM PROTEINS & TRANSCRIPTION FACTORS 1995-2001. History Note. 2002; use BRCA2 PROTEIN (NM ...

https://meshb.nlm.nih.gov/record/ui?ui=D024682

Cancer-causing BRCA2 missense mutations disrupt an intracellular protein assembly mechanism to disable genome maintenance ... Impaired BRCA2 binding to SEM1 (DSS1) (Homo sapiens) * BRCA2 mutants do not bind SEM1 (DSS1) (Homo sapiens) * BRCA2 mutants ( ... A protein modification that effectively converts a source amino acid residue to an L-valine. ... Defective homologous recombination repair (HRR) due to BRCA2 loss of function (Homo sapiens) * ...

https://reactome.org/content/detail/R-HSA-9763216

This RNA negatively regulates the BRCA2 tumor suppressor protein and positively regulates Myc oncoprotein. It contains binding ... Prostate Cancer Associated Transcript 1 (Non-Protein Coding). Description. From NCBI Gene: This gene produces a long non-coding ...

https://edrn.nci.nih.gov/data-and-resources/biomarkers/pcat1/

2 of the Biochemistry questions and answers section on Protein Structure Section 1. Discussion Page 1 of 1, sorted by Newest. ... The BRCA2 protein, which has a function similar to that of BRCA1, also interacts with the RAD51 protein. By influencing DNA ... In the nucleus of many types of normal cells, the BRCA1 protein interacts with RAD51 during repair of DNA double-strand breaks ... damage repair, these three proteins play a role in maintaining the stability of the human genome. ...

https://www.indiabix.com/biochemistry/protein-structure/discussion-587

https://meshb-prev.nlm.nih.gov/record/ui?ui=D024682

BRCA1 Protein MeSH BRCA2 Protein MeSH DeCS ID:. 54480 Unique ID:. D061325 ... SÍNDROME DE CÁNCER HEREDITARIO autosómico dominante en el cual una mutación con mayor frecuencia en BRCA1 o BRCA2, se asocia ... Autosomal dominant HEREDITARY CANCER SYNDROME in which a mutation most often in either BRCA1 or BRCA2 is associated with a ... Autosomal dominant HEREDITARY CANCER SYNDROME in which a mutation most often in either BRCA1 or BRCA2 is associated with a ...

https://decs.bvsalud.org/en/ths/resource/?id=54480&filter=ths_exact_term&q=HEREDITARY+BREAST+AND+OVARIAN+CANCER+SYNDROME

BRCA1 Protein (7) * BRCA2 Protein (7) * Genetic Testing (5) * Genetic Predisposition to Disease (5) ... Functional assays for analysis of variants of uncertain significance in BRCA2. Guidugli, Lucia; Carreira, Aura; Caputo, ... Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches. Guidugli, Lucia; ... A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance ( ...

https://pesquisa.bvsalud.org/perinatal/?lang=en&q=au:Guidugli,+Lucia

... that were screened for mutations in the coding region and splice sites of the BRCA1 and BRCA2 genes by HDA and protein ... This possibility was then tested by quantitative Southern blot hybridization: a BRCA2 probe (exon 11), which maps to 13q12.3, ... and the protein truncation test, using mainly genomic DNA as a starting material. In a recent analysis performed on 237 ... the Breast Cancer Linkage Consortium Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast ...

https://aacrjournals.org/cancerres/article/59/2/455/505511/Screening-for-Germ-Line-Rearrangements-and

BRCA1 and BRCA2 genes (familial breast and ovarian cancer). *CETP (cholesteryl ester transfer protein) genotyping ...

https://www.cdc.gov/mmwr/preview/mmwrhtml/rr5806a4.htm

BRCA2 works in partnership with another protein called RAD51. BRCA2 helps RAD51 molecules to assemble on strands of broken DNA ... The study found that BRCA2 proteins work in pairs -- which the researchers found surprising since BRCA2 is one of the largest ... The BRCA1 and BRCA2 genes encode proteins involved in DNA repair. The DNA in our cells undergoes damage thousands of times a ... The findings showed that each pair of BRCA2 proteins binds two sets of RAD51 that run in opposite directions. This allows it to ...

https://www.med-chemist.com/2014/10/

BRCA2 Protein 1 * Breast Carcinoma In Situ 1 * Carcinoma, Adenoid Cystic 1 ... characterizing and quantifying their constituent proteins, or proteome. Proteomic analysis for each CPTAC study is carried out ... independently by Proteomic Characterization Centers (PCCs) using a variety of protein fractionation techniques, instrumentation ...

https://datacatalog.mskcc.org/search?keyword=onco_trees_fq:Breast

Researchers create a visualization of the full-length human BRCA2 protein at single molecule level. April 2, 2023. ... Greek yogurt is a good source of protein, calcium, and probiotics-live bacteria that can improve gut health. Choose Greek ...

https://androidizer.com/top-7-best-superfoods-for-a-balanced-diet/

See also BRCA2 Protein Genes, Cancer Suppressor See Genes, Tumor Suppressor Genes, Class I See Genes, MHC Class I ...

https://classification.nlm.nih.gov/class_index/index/G?page=10&

... have or are suspected to have BRCA1 or BRCA2 genetic mutations, or have an elevated CA-125 level (antigen 125-a protein ... 5, 1, 25, 26, 27] The tumor can contain echogenic material arising from mucin or protein debris. The more solid the areas are, ...

https://emedicine.medscape.com/article/404450-overview

Although BRCA proteins are known to maintain genomic stability mainly by homologous recombination-mediated DNA damage repair, ... Identification of genetic interactors of BRCA2 in ES cell-based model. Thursday, October 11, 2012 - Poster Session III ... Abnormally high expression of these genes rescued Brca2 loss-induced lethality in mES cells. One candidate encodes a PDZ domain ... Interestingly, while inactivation of both alleles of BRCA1 or BRCA2 genes is necessary for tumor development, their loss in ...

https://researchfestival.nih.gov/festival12/poster-GEN-GENOM-7.html

BRCA1 and BRCA2 help make proteins that repair damaged DNA. ☹. BRCA1 and BRCA2 help make proteins that repair damaged DNA. 😊 ... to avoid potential confusion with other entities such as the disease itself or the protein product of the gene. ...

https://medical-text-matters.com/en-editorial-services/

BRCA2 mutations disrupt these repair functions, increasing patients' risk for breast, ovarian, prostate, and pancreatic cancer as well as melanoma. (ons.org)
Mutations in the BRCA2 gene are associated with an increased risk of breast cancer in both men and women, as well as several other types of cancer. (medlineplus.gov)
Most BRCA2 gene mutations lead to the production of an abnormally small, nonfunctional version of the BRCA2 protein from one copy of the gene in each cell. (medlineplus.gov)
As a result, less of this protein is available to help repair damaged DNA or fix mutations that occur in other genes. (medlineplus.gov)
Many of the same BRCA2 gene mutations that increase the risk of breast cancer (described above) also increase the risk of ovarian cancer. (medlineplus.gov)
Women with BRCA2 gene mutations have an approximately 12 to 25 percent chance of developing ovarian cancer in their lifetimes, as compared with 1.6 percent in the general population. (medlineplus.gov)
Inherited BRCA2 gene mutations have been found to increase the risk of prostate cancer. (medlineplus.gov)
BRCA2 gene mutations likely reduce the BRCA2 protein's ability to repair DNA, allowing potentially damaging mutations to persist in various other genes. (medlineplus.gov)
These mutations impair the ability of the BRCA2 protein to help repair damaged DNA. (medlineplus.gov)
It is not clear why different individuals with BRCA2 mutations develop cancers in different organs. (medlineplus.gov)
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)
Mutations in breast cancer susceptible genes, BRCA1 and BRCA2 are the genetic factors conferring highest risk to develop breast cancer. (nih.gov)
Interestingly, while inactivation of both alleles of BRCA1 or BRCA2 genes is necessary for tumor development, their loss in normal cells affects cell viability, indicating that cells lacking BRCA1 or 2 are able to survive and predisposed to tumorigenesis due to mutations in other genes such as those involved in cell cycle regulation or DNA damage response. (nih.gov)
BRCA1 and BRCA2 are sometimes called tumour suppressors because when they have certain changes, called harmful or pathogenic mutations, cancer can develop. (oncologica.com)
DNA mutations in a gene can change what protein is made. (oncologica.com)
Specific inherited mutations in BRCA1 and BRCA2 increase the risk of female breast and ovarian cancers, and they have been associated with increased risks of several additional types of cancer. (pvhomed.com)
Together, BRCA1 and BRCA2 mutations account for about 20 to 25 percent of hereditary breast cancers and about 5 to 10 percent of all breast cancers. (pvhomed.com)
In addition, mutations in BRCA1 and BRCA2 account for around 15 percent of ovarian cancers overall. (pvhomed.com)
Breast cancers associated with BRCA1 and BRCA2 mutations tend to develop at younger ages than sporadic breast cancers. (pvhomed.com)
The effects of mutations in BRCA1 and BRCA2 are seen even when a person's second copy of the gene is normal…About 12 percent of women in the general population will develop breast cancer sometime during their lives. (pvhomed.com)
Heterozygous carriers of mutations in the BRCA2 gene have a high risk of developing breast and other cancers. (kent.ac.uk)

In the nucleus of many types of normal cells, the BRCA1 protein interacts with RAD51 during repair of DNA double-strand breaks. (indiabix.com)

For example, 25% of patients with BRCA2 ovarian cancer will become resistant to cisplatin within six months. (ons.org)
Autosomal dominant HEREDITARY CANCER SYNDROME in which a mutation most often in either BRCA1 or BRCA2 is associated with a significantly increased risk for breast and ovarian cancers. (bvsalud.org)

Researchers have discovered a protein that may lead to a new way to prevent resistance and improve outcomes for patients whose cancers have a BRCA2 mutation. (ons.org)
Researchers discovered an unexpected way that breast cancers cells with mutant BRCA1 or BRCA2 genes acquire drug resistance and evade chemotherapies. (nih.gov)
An analysis of clinical information showed that expression of PTIP correlated with how patients with BRCA1- and BRCA2- mutant cancers responded to treatment with DNA-damaging agents. (nih.gov)
Heterozygous mutation of BRCA2 is associated with an increased risk of developing cancers of the breast, ovaries, pancreas, and other sites, thus BRCA2 acts as a classic tumor suppressor gene. (nih.gov)

13. New advances in the DNA damage response network of Fanconi anemia and BRCA proteins. (nih.gov)
Although BRCA proteins are known to maintain genomic stability mainly by homologous recombination-mediated DNA damage repair, detailed mechanisms of how BRCA loss induces tumorigenesis remain unclear. (nih.gov)

The BRCA2 gene provides instructions for making a protein that acts as a tumor suppressor. (medlineplus.gov)
Tumor suppressor proteins help prevent cells from growing and dividing too rapidly or in an uncontrolled way. (medlineplus.gov)
Understanding BRCA2 Function as a Tumor Suppressor Based on Domain-Specific Activities in DNA Damage Responses. (nih.gov)
However, understanding BRCA2 function as a tumor suppressor is severely limited by the fact that ~70% of the encoded protein has not been tested or assigned a function in the cellular DNA damage response. (nih.gov)
This RNA negatively regulates the BRCA2 tumor suppressor protein and positively regulates Myc oncoprotein. (nih.gov)
The National Cancer Institute explains what the BRCA1 and BRCA2 genes are and what they mean, "BRCA1 and BRCA2 are human genes that produce tumor suppressor proteins. (pvhomed.com)

In part A, cohorts of three to six patients, enriched for BRCA1 and BRCA2 mutation carriers, received niraparib daily at ten escalating doses from 30 mg to 400 mg in a 21-day cycle to establish the maximum tolerated dose. (nih.gov)
Uptake of Preimplantation Genetic Diagnosis in Female BRCA1 and BRCA2 Mutation Carriers. (cdc.gov)

By helping to repair DNA, the BRCA2 protein plays a critical role in maintaining the stability of a cell's genetic information. (medlineplus.gov)
By influencing DNA damage repair, these three proteins play a role in maintaining the stability of the human genome. (indiabix.com)

These proteins help repair damaged DNA and, therefore, play a role in ensuring the stability of the cell's genetic material. (pvhomed.com)

The researchers identified several proteins that actively promote destabilization of replication forks. (nih.gov)
Their absence protected the DNA at replication forks and reversed the drug sensitivity of BRCA1- and BRCA2- mutant cells. (nih.gov)
BRCA2 is an essential genome stability gene that has various functions in cells, including roles in homologous recombination, G2 checkpoint control, protection of stalled replication forks, and promotion of cellular resistance to numerous types of DNA damage. (nih.gov)

People who inherited a BRCA1 and BRCA2 mutation tend to develop cancer at younger ages. (oncologica.com)

Using a technique that allowed Escherichia coli to produce several proteins at once, the scientists expressed and reconstituted the TSEN protein complex, which was able to cleave tRNA. (nih.gov)

Thus, lack of BRCA1 and BRCA2 increases genomic instability and enhances sensitivity to DNA-damaging drugs. (nih.gov)
Because BRCA2 functions in DNA repair via homologous recombination, this leads to genomic instability. (kent.ac.uk)

In the nucleus of many types of normal cells, the BRCA2 protein interacts with several other proteins to mend breaks in DNA. (medlineplus.gov)
The BRCA2 protein, which has a function similar to that of BRCA1, also interacts with the RAD51 protein. (indiabix.com)

Upon DNA damage, BCDX2 acts downstream of BRCA2 recruitment and upstream of RAD51 recruitment. (nih.gov)
The latter part shows the effect of the single agents and drug combinations on HSP90 client proteins and downstream effectors. (forbetterscience.com)

RADX is a DNA-binding protein that helps repair and ensure accuracy of DNA copies during cell division. (ons.org)
BRCA1 and BRCA2 are human proteins that help to repair damaged DNA. (nih.gov)
When either of these genes is mutated, or altered, the resulting abnormal proteins may be unable to properly repair DNA. (nih.gov)
The reduced ability to repair DNA makes cancer cells with a BRCA1 or BRCA2 mutation sensitive to treatment with DNA-damaging drugs. (nih.gov)
Certain proteins are recruited to stalled forks to stabilize, repair, and restart the replication fork. (nih.gov)
BRCA1 and BRCA2 genes create tumor-suppressing proteins and help repair damaged DNA. (self.com)
The BRCA2 protein is an essential component of DNA repair pathways, suppressing the formation of gross chromosomal rearrangements. (nih.gov)
In normal circumstances, these genes help in producing proteins which repair DNA damage. (saintfrancishosp.com)
BRCA1 (BReast CAncer gene 1) and BRCA2 (BReast CAncer gene 2) are genes that produce proteins to repair damaged DNA. (oncologica.com)
BRCA1, BRCA2, and p53 are all DNA repair genes. (oncologica.com)

FAAP95 replaces BRCA2 as the true FANCB protein. (nih.gov)

Thus in certain cell types, genome instability might be driven directly by heterozygosity for BRCA2 mutation. (kent.ac.uk)

19. Fanconi anemia complementation group FANCD2 protein serine 331 phosphorylation is important for fanconi anemia pathway function and BRCA2 interaction. (nih.gov)
Part of the Rad21 paralog protein complex BCDX2 which acts in the BRCA1-BRCA2-dependent HR pathway. (nih.gov)

In these individuals, BRCA2 appears to act as a tumour suppressor gene, in that loss of the wild type allele is frequently observed within tumours, leading to loss of BRCA2 function. (kent.ac.uk)

A harmful BRCA1 or BRCA2 mutation can be inherited from a person's mother or father. (pvhomed.com)

BRCA1 and BRCA2 - update and implications on the genetics of breast cancer: a clinical perspective. (medlineplus.gov)

Remarkably, even the specific role(s) of many known domains in BRCA2 are not well characterized, predominantly because stable expression of the very large BRCA2 protein in cells, for experimental purposes, is challenging. (nih.gov)

Two Missense Variants Detected in Breast Cancer Probands Preventing BRCA2-PALB2 Protein Interaction. (cdc.gov)

However, the cells can acquire a secondary mutation that restores normal BRCA2 function and causes chemotherapy resistance. (ons.org)
Researchers suspect that the BRCA2 protein has additional functions within cells. (medlineplus.gov)
For example, the protein may help regulate cytokinesis, which is the step in cell division when the fluid surrounding the nucleus (the cytoplasm) divides to form two separate cells. (medlineplus.gov)
Abnormally high expression of these genes rescued Brca2 loss-induced lethality in mES cells. (nih.gov)
The altered gene encodes a protein called potassium chloride cotransporter 3 (KCC3), which helps swollen cells remove excess fluid. (nih.gov)
The gene codes for the protein glucocerebrosidase, which normally helps cells dispose of certain lipids and other waste. (nih.gov)
Cells that don't have any functioning BRCA1 or BRCA2 proteins can grow out of control and become cancer. (oncologica.com)

However, the localization of RAD51 to damage sites during TC-HR does not require BRCA1 and BRCA2, but relies on RAD52 and Cockayne Syndrome Protein B (CSB). (nature.com)
The protein encoded by this gene is a member of the RAD51 protein family. (nih.gov)

One candidate encodes a PDZ domain-containing protein, GIPC3. (nih.gov)

A team of researchers led by Drs. Andre Nussenzweig and Shyam Sharan at NIH's National Cancer Institute (NCI) examined the roles of BRCA1 and BRCA2 in DNA replication, the process by which the cell copies DNA strands in preparation for cell division. (nih.gov)

HN - 2018(1987) MH - AAA Domain UI - D000074182 MN - G2.111.570.820.709.275.500.913 MS - An approximately 250 amino acid domain common to AAA ATPases and AAA Proteins. (nih.gov)
HN - 2018 FX - ATPases Associated with Diverse Cellular Activities MH - AAA Proteins UI - D000074582 MN - D8.811.277.40.13 MN - D12.776.157.25 MS - A large, highly conserved and functionally diverse superfamily of NTPases and nucleotide-binding proteins that are characterized by a conserved 200 to 250 amino acid nucleotide-binding and catalytic domain, the AAA+ module. (nih.gov)
and the management of co-occurring medical and psychiatric conditions HN - 2018 MH - ADP-Ribosylation UI - D000074744 MN - G2.111.660.871.790.600.200 MN - G2.111.691.600.200 MN - G3.734.871.790.600.200 MN - G5.308.670.600.200 MS - Post-translational modification of proteins with ADENOSINE DIPHOSPHATE RIBOSE. (nih.gov)

A protein modification that effectively removes or replaces an L-glutamic acid. (reactome.org)

Description of the protein which includes the UniProt Function and the NCBI Gene Summary. (nih.gov)
When either of these genes is mutated, or altered, such that its protein product is not made or does not function correctly, DNA damage may not be repaired properly. (pvhomed.com)

LMAN2 regulates the transport of exosomal cargo proteins through the Golgi complex [ 11 ]. (hindawi.com)

When a patient with a BRCA2 mutation initially begins treatment, the mutation actually enhances the effect of chemotherapies such as cisplatin or olaparib. (ons.org)

However, scientists have recently uncovered other roles for BRCA1 and BRCA2 after DNA is damaged. (nih.gov)
Here, we review what is known about these domains and the assay systems that are available to study the cellular roles of BRCA2 domains in DNA damage responses. (nih.gov)

We used Gene Expression Profiling Interactive Analysis (GEPIA), Breast Cancer Gene-Expression Miner v4.7 (bc-GenExMiner v4.7), UALCAN, The Human Protein Atlas (HPA), Gene Expression-Based Outcome for Breast Cancer Online (GOBO), Cancer Cell Line Encyclopedia (CCLE), SpatialDB, and Tumor Immune Estimation Resource (TIMER) databases to evaluate the LMAN2 expression. (hindawi.com)
Here we demonstrate that, in a specific vertebrate cell type, the chicken B cell line DT40, heterozygosity for a BRCA2 mutation has a distinct phenotype. (kent.ac.uk)
Explore our solutions for multiple applications - vaccines, monoclonal antibodies, recombinant proteins, cell or gene therapy. (vwr.com)

However, not everyone who inherits a mutation in the BRCA2 gene will develop cancer. (medlineplus.gov)
The 29-year-old underwent a double mastectomy after testing positive for the BRCA2 gene mutation, which indicates an increased risk of breast cancer. (self.com)
The risk of contralateral breast cancer in patients from BRCA1/2 negative high risk families as compared to patients from BRCA1 or BRCA2 positive families: a retrospective cohort study. (cdc.gov)
BRCA1 or BRCA2 are two different genes and the most common cause of hereditary breast cancer. (saintfrancishosp.com)
There has been a lot of buzz recently about the BRCA1 and BRCA2 gene, also known as the breast cancer gene. (pvhomed.com)
By contrast, according to the most recent estimates, 55 to 65 percent of women who inherit a harmful BRCA1 mutation and around 45 percent of women who inherit a harmful BRCA2 mutation will develop breast cancer by age 70 years. (pvhomed.com)

We are also examining the expression of GIPC3 in human BRCA2-deficient tumors. (nih.gov)

But fewer women are willing to consider prophylactic mastectomy, which markedly reduces risk in women with positive BRCA1 and BRCA2 tests. (pvhomed.com)

When a fork becomes stalled by DNA damage, BRCA1 and BRCA2 protect the newly synthesized strands of DNA. (nih.gov)

Clinical Decision-Making in Patients with Variant of Uncertain Significance in BRCA1 or BRCA2 Genes. (cdc.gov)

LMAN2, a protein-coding gene, is responsible for encoding a type I transmembrane lectin that shuttles between the plasma membrane, Golgi apparatus, and endoplasmic reticulum. (hindawi.com)
However, it is unclear whether loss of the wild type allele is stochastic or if heterozygosity for BRCA2 mutation carries a phenotype that contributes to tumorigenic progression. (kent.ac.uk)

BRCA1 and BRCA2 are genes that produce proteins that suppress tumors. (raphahl.com)

Murphy tested positive for the BRCA2 gene mutation , a rare mutation impacting less than 1 percent of the American population, according to the Susan G. Komen foundation . (self.com)

Anatomy1

Diseases7

Chemicals and Drugs8

Analytical, Diagnostic and Therapeutic Techniques and Equipment5

Phenomena and Processes12

Disciplines and Occupations1

Named Groups1

Health Care3

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)

Exclusion of a major role for the PTEN tumour-suppressor gene in breast carcinomas. (2/929)

High frequency of germ-line BRCA2 mutations among Hungarian male breast cancer patients without family history. (3/929)

Benefits and costs of screening Ashkenazi Jewish women for BRCA1 and BRCA2. (4/929)

The prevalence of common BRCA1 and BRCA2 mutations among Ashkenazi Jews. (5/929)

Commercialization of BRCA1/2 testing: practitioner awareness and use of a new genetic test. (6/929)

Prevalence of BRCA1 and BRCA2 Jewish mutations in Spanish breast cancer patients. (7/929)

Characteristics of small breast and/or ovarian cancer families with germline mutations in BRCA1 and BRCA2. (8/929)

BRCA1 Protein

Genes, BRCA1

BRCA2 Protein

Genes, BRCA2

Germ-Line Mutation

Breast Neoplasms

Ovarian Neoplasms

Mutation

Jews

Genetic Testing

Heterozygote

Rad51 Recombinase

Genetic Predisposition to Disease

Founder Effect

Breast Neoplasms, Male

Neoplastic Syndromes, Hereditary

Neoplasm Proteins

DNA Mutational Analysis

DNA Repair

Genetic Counseling

DNA Damage

Salpingectomy

Transcription Factors

Tumor Suppressor Proteins

Homologous Recombination

Pedigree

Ubiquitin-Protein Ligases

Fallopian Tube Neoplasms

Genomic Instability

Heterozygote Detection

Phthalazines

Family Health

Cell Line, Tumor

Gene Expression Regulation, Neoplastic

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)

Exclusion of a major role for the PTEN tumour-suppressor gene in breast carcinomas. (2/929)

High frequency of germ-line BRCA2 mutations among Hungarian male breast cancer patients without family history. (3/929)

Benefits and costs of screening Ashkenazi Jewish women for BRCA1 and BRCA2. (4/929)

The prevalence of common BRCA1 and BRCA2 mutations among Ashkenazi Jews. (5/929)

Commercialization of BRCA1/2 testing: practitioner awareness and use of a new genetic test. (6/929)

Prevalence of BRCA1 and BRCA2 Jewish mutations in Spanish breast cancer patients. (7/929)

Characteristics of small breast and/or ovarian cancer families with germline mutations in BRCA1 and BRCA2. (8/929)

BRCA2

BCCIP

RAD51

Michael Stratton

Institute of Cancer Research

BRCA1

Alan Ashworth

DMC1 (gene)

FANCG

PCID2

PALB2

HMG20B

KIF4A

PARP inhibitor

Bing Xia

Ashok Venkitaraman

DNA repair and recombination protein RAD54-like

SNAI2

Double-strand break repair model

Replication protein A1

Basal-like carcinoma

Abcam

DHX32

SHFM1

B. J. Rao

CREB-binding protein

Kum Kum Khanna

Cancer biomarker

Leishmania infantum

Fanconi anemia

Predictive medicine

Prostate cancer

DNA damage theory of aging

Cancer

Keratolytic winter erythema

Breast cancer classification

RAD51L3

DNA repair