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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
Abstract BRCA1 and BRCA2 gene pathogenic variants account for most hereditary breast cancer and are increasingly used to determine eligibility for PARP inhibitor (PARPi) therapy of BRCA-related cancer.
4 Σεπ 1998 · BRCA1- and BRCA2- associated hereditary breast and ovarian cancer (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (including fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a ...
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.
Pathogenic variant spectrum. 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).
What does it mean to have a BRCA gene mutation? 1 Background information about the BRCA1 and BRCA2 genes 2. Managing breast cancer risk 3.
In This Section. Prevalence of BRCA1/2 Pathogenic Variants. BRCA1/2 founder pathogenic variants. BRCA1/2 de novo pathogenic variant rate. Detection of BRCA1/2 Variants. Indications for BRCA1/2 Genetic Testing. Related Conditions.
