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, 

 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.

 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, 

mutations also cause pancreatic cancer. Furthermore, 

 can cause ovarian cancer, and an oophorectomy could also be considered.

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Kevin Hughes, MD, discusses mutational risk in oncology.

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 the role of genetic testing in breast cancer.

Although genetic testing is becoming more prevalent across oncology, it is not being performed enough, says Hughes.

Women with breast cancer who harbor an actionable genetic aberration are not often aware of their mutational status prior to testing. If these women aren’t tested, they may not receive optimal therapy, explains Hughes.

Now, genetic counselors, as well as those with genetics training, are able to perform these tests in an effort to make genetic testing more widespread says Hughes.

Additionally, increasing the efficiency of genetic consultations can have lasting implications on treatment for a greater number of patients, explains Hughes.

Actionable mutations are complex and are associated with varying degrees of risk. Utilizing resources such as ASK2ME™, which can help calculate the risk of cancers associated with genetic mutations, may expand the field of genetic testing, concludes Hughes.

View more from the 2020 Miami Breast Cancer Conference

Kevin Hughes, MD, discusses the role of genetic testing in breast cancer.

Kevin Hughes, MD

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Dr. Hughes on Mutational Risk in Oncology

Dr. Hughes on Genetic Testing in Breast Cancer