Definition
A tumour suppressor gene, variants in this gene can increase an individual’s risk of developing certain types of cancer.
Use in clinical context
The protein encoded by the BRCA1 gene is involved in DNA repair which is important in maintaining genome function. Variants in the BRCA1 gene 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 this gene can also play a role in other cancers, including fallopian tube cancer, peritoneal cancer, prostate cancer and pancreatic cancer. While variants in the BRCA1 gene increase the chance of developing cancer, not everyone with one of these variants will develop cancer. Testing for germline BRCA1 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.
Related terms
BRCA genes | BRCA2 | Cancer | Deoxyribonucleic acid (DNA) | Gene | Variant
