Dr. Hughes on Mutational Risk in Oncology

Kevin Hughes, MD, medical director, Bermuda Cancer Genetics and Risk Assessment Clinic, co-director, Avon Breast Evaluation Program, Massachusetts General Hospital, and associate professor of surgery, Harvard Medical School, discusses mutational risk in oncology.

Each genetic mutation has a different spectrum of related cancers, as well as different levels of risk for each cancer, explains Hughes. The National Comprehensive Cancer Network guidelines are particularly helpful in laying out which genes confer higher or lower risk, as well as how to manage patients relative to that risk. For example, ATM mutations confer an increased risk of breast cancer, but that increased risk is relatively minor. These patients could benefit from screening with MRI, says Hughes.

However, if a patient has a BRCA1 mutation, which confers a high risk of breast cancer, patients should undergo prophylactic mastectomy and MRI.

Notably, genetic alterations can inform an individual’s risk of more than 1 cancer as well as additional preventative strategies. For example, ATM mutations also cause pancreatic cancer. Furthermore, BRCA1 can cause ovarian cancer, and an oophorectomy could also be considered.