BRCA1/2 testing, and management options recommended for carriers?

• A. Identifies risk for colorectal cancer; management includes colonoscopy.
• B. Identifies increased risk for breast and ovarian cancer; management includes enhanced surveillance, risk-reducing surgery, chemoprevention, and targeted therapies.
• C. Identifies risk for pancreatic cancer; management is diet changes only.
• D. Identifies risk for thyroid cancer; management includes thyroidectomy.

Answer: (B)

BRCA1/2 testing identifies inherited risk for breast and ovarian cancer. Carriers have a substantially higher lifetime risk of developing breast cancer and epithelial ovarian cancer, so the management focuses on reducing that risk and detecting cancer early. The best approach includes enhanced surveillance—such as starting breast screening earlier and using breast MRI in addition to mammography—along with risk-reducing strategies. Risk-reducing salpingo-oophorectomy (removal of the fallopian tubes and ovaries) substantially lowers ovarian cancer risk and also decreases breast cancer risk when done before menopause. Some individuals may choose risk-reducing mastectomy to lower breast cancer risk further. Chemoprevention with agents like SERMs can be considered in certain cases. For those who develop cancer, targeted therapies that exploit BRCA1/2 deficiency, such as PARP inhibitors, are important treatment options.

Other options don’t fit BRCA1/2 testing because colorectal cancer risk and routine colonoscopy aren’t the primary concerns with BRCA mutations, pancreatic cancer risk isn’t managed by diet changes alone, and thyroid cancer risk isn’t a recognized part of BRCA-related cancer risk requiring thyroidectomy.