Definition
There are two BRCA genes (BRCA1 & BRCA2) which are tumour suppressor genes involved in DNA repair. Variants in the BRCA genes can lead to cancer.
Use in clinical context
Variants in the BRCA genes can lead to the development of cancer. Most commonly these cancers are breast cancer in both women and men, and ovarian cancer in women. Variants in these genes can also play a role in other cancers, including fallopian tube cancer, peritoneal cancer, prostate cancer and pancreatic cancer. While variants in the BRCA genes increase the chance of developing cancer, not everyone with one of these variants will develop cancer. Testing for germline variants is typically done when there is a family history of BRCA associated cancers or in other clinical situations such as when an individual develops disease at a young age.
