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Definition

A tumour suppressor gene, mutations in this gene can increase an individual’s risk of developing certain types of cancer.

Use in clinical context

The BRCA1 gene is involved in DNA repair which is important in maintaining genome function. Variants in the BRCA1 gene can lead to 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 risk of cancer, not everyone with such variants develops cancer and not all cases of BRCA1 associated cancers are the result of variants in the BRCA1 gene. Testing for variants is typically done when there is a family history of BRCA associated cancers or when an individual develops disease at a young age.

Last updated on 31st May, 2019