Abnormal laboratory results: BRCA testing for familial breast cancer

Abstract

Mutations in the BRCA1 and BRCA2 genes are associated with hereditary breast and ovarian cancer. Genetic testing is available in specialised laboratories, but is expensive and presents a significant technical and interpretative challenge. Identification of a causative mutation carries lifelong health and psychosocial implications for the woman and her relatives. It also influences surveillance and treatment options. Testing should therefore only be considered with professional genetic counselling by specialists in familial cancer clinics.