If a man is found to have brca1 or brca2 mutations, what should his next step be?

Genetic counseling: The penetrance of a mutation defines the risk of developing the disease that one is at risk for. The penetrance of the brca mutations varies between 40-80% for women and less than 10% for men, depending on the specific mutation and patient factors. The best method to prevent breast cancer at this time is to have a prophylactic bilateral mastectomy.

Surgical consult: I would recommend any patient who tests positive for brca 1 or 2 meet with a genetic counselor and breast surgeon to discuss their risk of developing breast cancer as well as treatment options available. This should be followed by a consultation with a plastic surgeon to discuss reconstruction of the breast.

Medical Oncologist: One experienced with brca assoc risks. Men that are carriers have an approx. 8% risk of developing breast cancer (compared to less than 1% for the general population) this usually does not justify prophylactic surgery in men, but there are surveillance recommendations that can be followed. Also the risk of prostate and pancreatic cancer are higher. Genetic counselor will not help with surveillance.