What does it mean to have a BRCA1 or BRCA2 gene mutation, and a diagnosis of Hereditary Breast and Ovarian Cancer syndrome (HBOC)?

Hereditary Breast and Ovarian Cancer syndrome (HBOC) is caused by mutations in one of two genes: BRCA1 or BRCA2. Women with HBOC have a high risk for both breast and ovarian cancer. Men with HBOC have an increased risk for breast cancer and prostate cancer. Both men and women with HBOC may have an increased risk for melanoma and pancreatic cancer. Sometimes, these cancers can develop at young ages.

The exact cancer risks and medical management guidelines for people with HBOC differ slightly depending on whether HBOC is caused by a BRCA1 or a BRCA2 gene mutation.

What can be done to protect people with HBOC from cancer?

The National Comprehensive Cancer Network (NCCN) provides recommendations for lowering the risk of cancer in men and women with HBOC. These recommendations include special screening for the cancers with high risks. This can mean starting screening at younger ages than typically recommended, performing the screenings more often and using more sensitive technologies. For example, women with HBOC should begin breast screening in their 20’s, and they should have MRIs in addition to, or instead of, mammograms. The risk of breast cancer in women with HBOC is very high, and in some cases it may even be reasonable to consider surgery to remove the breasts before cancer can develop.

It is difficult to screen for ovarian cancer, and women with HBOC have a high risk of developing this cancer. Therefore, NCCN recommends that women with HBOC have surgery to remove their ovaries and fallopian tubes between 35 and 40 years, or after they have finished having children.

Men with HBOC should begin breast screening exams done by their doctors beginning in their 30’s. In some cases, mammograms may also be recommended. Men should talk to their doctors and other healthcare providers about screening for prostate cancer.

Screening for pancreatic cancer is more likely to be recommended for men and women who have HBOC and have a history of pancreatic cancer in their family. Currently, pancreatic cancer screening is mostly performed in research settings.