Kenneth Offit, Chief of the Clinical Genetics Service at Memorial Sloan Kettering, says the discovery that mutations in the BRCA genes are associated with breast, ovarian, prostate, and colon cancer has had a profound impact on clinical practice.
For example, breast screening with MRI is recommended for women who have a BRCA mutation. Preventive breast surgery – once offered to any woman with a strong family history of the disease – is now reserved for women with a BRCA mutation. In addition, women with the mutation may consider chemoprevention with estrogen-blocking drugs such as tamoxifen, says breast surgeon Alexandra Heerdt.
Most women with breast cancer do not have a family history of the disease or a BRCA mutation. But women with a family history of breast and ovarian cancer, particularly people of Ashkenazi Jewish descent, are encouraged to speak with a genetic counselor who can help them determine if they should be tested for the mutation. Genetic counselors collaborate with oncologists, surgeons, and other members of the clinical team at Memorial Sloan Kettering to help patients navigate these complex decisions, explains genetic counselor Emily Glogowski.