The Germline BRCA1 & BRCA2 test analyzes the BRCA1 and BRCA2 genes, which are the two most commonly associated genes with hereditary breast and ovarian cancer (HBOC). Mutations in these genes significantly increase the risk of developing breast, ovarian, prostate, and pancreatic cancers. Germline mutations in BRCA1/2 account for 10–15% of ovarian cancers, 5–10% of breast cancers, and 3–5% of pancreatic and prostate cancers.
BRCA1 and BRCA2 follow an autosomal dominant inheritance pattern, meaning a person needs only one copy of the altered gene to be at risk for the associated condition. This genetic variant can either be inherited from a parent or arise as a new (de novo) mutation. First-degree relatives (parents, siblings, and children) of an affected individual have a 50% (1 in 2) chance of harbouring the same pathogenic variant.
Early detection of BRCA mutations allows individuals to take proactive measures, such as enhanced surveillance, preventive surgery, and personalized treatment, ultimately reducing cancer risk and improving outcomes.
