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Testing for inherited changes in BRCA1 and BRCA2 can give several possible results: a positive result (a harmful change in the gene is present), a negative result (no harmful gene change is present), or a gene change (variant) of uncertain significance (VUS) result.
- Genetic Testing Fact Sheet
Genetic testing can give several possible results: positive,...
- Risk Factors
It is usually not possible to know exactly why one person...
- Genetic Testing Fact Sheet
BRCA1 and BRCA2 are large genes in which multiple different types of pathogenic variant have been identified. The majority of these variants are individually rare, and several have only been reported in single families (so-called ‘private’ variants).
23 Ιουλ 2023 · Both BRCA1 and BRCA2 are thought to act as tumor suppressor genes. Over the decades, it has been shown that mutations in the BRCA genes can lead to the development of breast, ovarian, prostate and colon cancer. In excess of 100 discrete germline mutations in BRCA1 and BRCA2 have been identified.
Germline pathogenic variants in BRCA1/BRCA2 are associated with ovarian cancer, fallopian tube cancer, primary peritoneal cancer, male breast cancer, prostate cancer, pancreatic cancer, and early-onset breast cancer. BRCA1/BRCA2 -associated cancer risks are inherited in an autosomal dominant manner.
6 Ιουν 2024 · People who have a BRCA1 or BRCA2 (BRCA1/2) inherited gene mutation also have an increased risk of pancreatic cancer, prostate cancer (in men) and melanoma (BRCA2 gene mutations only). They also have an increased risk of some second primary cancers (new cancers that develop after breast cancer).
5 Αυγ 2020 · BRCA1 and BRCA2 are cancer-susceptibility genes, meaning that people who inherit pathogenic* mutations in either one have an increased risk of developing certain cancers. Hereditary (or “germline”) mutations in BRCA1 or BRCA2 cause Hereditary Breast and Ovarian Cancer Syndrome.
23 Δεκ 2011 · BRCA1 is a pleiotropic DDR protein that functions in both checkpoint activation and DNA repair, whereas BRCA2 is a mediator of the core mechanism of homologous recombination.
