BRCA2

BRCA1/2 is a tumor suppressor gene that inhibits the occurrence of malignant tumors. It plays an important role in regulating the replication of human cells, repairing DNA damage and normal growth of cells. If the BRCA1/2 gene is mutated, cells are more likely to accumulate harmful DNA damage and lead to cancer. Mutations in BRCA1/2 gene are associated with hereditary breast and ovarian cancers, in which the risk of breast and ovarian cancer is 50% to 85% and 15% to 45% respectively in BRCA1 mutation, and the risk of breast and ovarian cancer is 50% to 85% and 10% to 20% respectively in BRCA2 mutation.

Olaparib and rucaparib have been recommended by the FDA and NCCN for the treatment of breast and ovarian cancer, respectively. Niraparib is also recommended by NCCN for the treatment of ovarian cancer. The FDA approved the PARP inhibitor olaparib for ovarian cancer patients with harmful mutations in the BRCA1/2 germ line and rucaparib for advanced ovarian cancer patients with harmful mutations in the BRCA1/2 germline or somatic cells. BRCA-mutated breast cancers are sensitive to some types of chemotherapy drugs, such as the DNA cross-linked drugs cisplatin and carboplatin. Recent studies have found that BRCA1/2 mutations may also increase the risk of lung cancer. In an analysis of 11,348 lung cancer patients and 15,861 non-lung cancer patients, BRCA2 mutations were found to be highly associated with lung cancer risk, suggesting that lung squamous cell carcinoma patients with BRCA1/2 mutations may benefit from PARP inhibitors.