The Importance of Genetics in Breast Cancer

By Dr. Susan Lee

How important is genetics when it comes to risk for breast cancer?

Breast cancer due to a gene abnormality makes up only about 5-10% of all breast cancers. This seems like a low number until you consider that in 2026, the American Cancer Society estimates over 320,000 new cases of invasive breast cancer and over 60,000 cases of noninvasive breast cancer will be diagnosed in women in the United States. 5-10% of that number translates to about 19,000-38,000 cases due to genetic causes. Over 2,600 men will also be diagnosed with breast cancer.

Everyone has different risk factors for breast cancer: past medical history, family history, social history including smoking and alcohol, reproductive history, etc. Some risk factors increase the lifetime risk of getting breast cancer more than others. To individualize screening and identify whether one is at high risk, every genetic female should have an initial breast health assessment at 18 years of age. Even genetic men with a strong family history of breast cancer should undergo an evaluation. If a person has a positive test for a high-risk gene, relatives may also be referred to health care provider for testing as the chance of passing the abnormal gene onto their children is 50%.

By consulting with a health care provider and enrolling in a high-risk program, the risks of breast cancer in patients who are found to carry a high-risk gene can be minimized. Risk reduction with lifestyle adjustments including exercise, weight loss, smoking cessation, less to no alcohol, certain medications or in some cases, surgery, can be offered depending on the gene testing result. Close and catered screenings for early detection may allow for discovery of a cancer when it is most treatable and hopefully, at a curable stage.

The importance of genetic testing in eligible individuals cannot be overstated. It not only impacts an individual’s own healthcare but possibly their family and future family. Northwell Health has an excellent Cancer Genetics Program which offers genetic counseling, even virtual counseling, when indicated.

Anyone with any questions about their genetic risk for breast cancer should see their health care provider or contact the Breast Program at Northwell Health in Riverhead (631-259-3290, 1272 E Main Street, Riverhead) where panel testing and a High-Risk Program is offered.

Susan Lee, MD, is the Chief of Breast Surgery at Peconic Bay Medical Center in Riverhead.