BRCA 1 & 2 Gene Analysis

Function

The BRCA1 and BRCA2 (BReast CAncer genes 1 and 2) are tumor suppressor genes. Their primary function is to produce proteins that help repair damaged DNA, ensuring the stability of each cell’s genetic material. When either of these genes is mutated, the DNA damage may not be repaired properly, leading to the accumulation of genetic alterations that can cause cells to become cancerous.

Why it is Ordered

This test is primarily ordered for individuals with a strong family history of breast, ovarian, tubal, or peritoneal cancer. It is also utilized for patients diagnosed with cancer at a young age or those with triple-negative breast cancer to determine if a hereditary mutation is present. Identifying a mutation helps in calculating the risk of future cancers and informs surgical or chemotherapeutic decisions.

Associated Conditions

• Hereditary Breast and Ovarian Cancer (HBOC) Syndrome: This is the primary condition associated with BRCA mutations. Mutations significantly increase the lifetime risk of developing breast and ovarian cancer.
• Other Malignancies: BRCA2 mutations, in particular, are linked to increased risks of prostate cancer in men, pancreatic cancer, and melanoma.
• Fanconi Anemia: Rare, biallelic mutations in BRCA2 can lead to this severe condition characterized by bone marrow failure and developmental abnormalities.