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BRCA1 (BReast CAncer gene 1) and BRCA2 (BReast CAncer gene 2) are genes that produce proteins that help repair damaged DNA. Everyone has two copies of each of these genes—one copy inherited from each parent.
- Genetic Testing Fact Sheet
Genetic testing can give several possible results: positive,...
- Risk Factors
Aspects of a person's age, family history, lifestyle, and...
- Genetic Testing Fact Sheet
18 Ιουν 2020 · BRCA1 and BRCA2 are tumor suppressor genes, which, when they function normally, keep tumors from forming. Some people, however, have an altered or mutated copy of the gene. Certain mutations are associated with an increased risk for several cancer types, including breast, ovarian, prostate, pancreatic, melanoma and, in some families, colorectal.
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.
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.
7 Νοε 2013 · Except for few common mutations, the spectrum of BRCA1 and BRCA2 mutations is heterogeneous in diverse populations. 185AGdel and 5382insC are the most important BRCA1 and BRCA2 alterations which have been encountered in most of the populations.
6 Οκτ 2017 · Breast cancer (BC) is the most common malignancy among women worldwide. A major advance in the understanding of the genetic etiology of BC was the discovery of BRCA1 and BRCA2 (BRCA1/2) genes, which are considered high-penetrance BC genes.
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.
