Genetic Testing for Breast Cancer: What You Need to Know

Understanding your genetic risk for breast cancer can be lifesaving. An easy, highly effective genetic test can aid with early detection for you and your family – by helping to identify hereditary mutations which may increase your risk for breast cancer. Denise Jeffery, APRN with the Elliot Breast Health Center, breaks down who should consider genetic testing, how it works, and what the results mean for you and your family.

What Is Genetic Testing for Breast Cancer? 

Genetic testing for breast cancer involves analyzing your DNA to identify mutations that may increase your risk of developing breast and other cancers.  

While most cancers are sporadic—caused by lifestyle or environmental factors—a small percentage are passed down through families. “Only about 5–10% of all cancers are due to an inherited mutation,” Jeffery explains. “But hereditary mutations can significantly impact your care and screening strategies.”

Who Should Consider Genetic Testing? 

The criteria for genetic testing have expanded, making it accessible to more women, and men. According to the American Cancer Society, consider testing if you:  

• Are diagnosed with breast cancer at age 50 or younger. At The Elliot, our practice is to test all women diagnosed with breast cancer ages 65 or younger. 

• Have two or more breast cancers, either at the same time or at different times.

• Have a family history of breast, ovarian, pancreatic, or male breast cancer.

• Are of Ashkenazi Jewish ancestry, due to a higher prevalence of BRCA1 and BRCA2 gene mutations. 

• Are diagnosed with triple-negative breast cancer. “Triple-negative breast cancers are breast cancers that test negative for estrogen, progesterone, and HER2,” Jeffery explains. “Those are the three receptors that all breast cancers are tested for.” 

Even women without a cancer diagnosis may qualify if they have a significant family history. 

How Genetic Testing Is Performed 

Genetic testing is simple, non-invasive, and can be done with a blood sample, saliva sample, or a cheek swab. Modern testing often uses multi-gene panels, which screen multiple hereditary cancer mutations at once, rather than testing only BRCA1 and BRCA2 genes. This comprehensive approach provides a more accurate assessment of your risk. 

What Happens if a Mutation Is Found? 

A positive test result does not mean you will undoubtedly develop cancer, but it does provide you with the information you need to act by seeking medical expertise to further evaluate your risk of cancer. If a mutation is found, consider the following in addition to consulting with your primary care physician or clinician:  

• Enhanced screening: Alternating mammograms and MRIs for earlier detection. 

• Preventive measures: Risk-reducing surgeries, such as removing ovaries and fallopian tubes for BRCA mutations. 

• Family testing: First-degree relatives have a 50% chance of carrying the same mutation, according to the National Cancer Institute. 

“All genes have specific risks associated with them,” Jeffery explains. “Once a mutation is identified, we make personalized recommendations for screening and prevention, tailored to each individual.” 

Take Action: Protect Your Breast Health  

If you are considering genetic testing or want to learn more about your breast cancer risk, the experts at the Elliot Breast Health Center can help. Our oncology genetics and high-risk assessment clinicians can help answer questions you might have, as well as offer expert guidance in risk assessment, genetic testing, and the development of personalized screening programs.  

Call our Oncology Genetics and High-Risk Assessment team at (603) 552-1677 or contact your primary care physician or clinician to discuss genetic testing and screening options tailored to you or your family needs.

Interested In Learning More? Listen to the Denise Jeffery's full podcast on genetics and breast cancer risk here. 

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Denise Jeffery, APRN is an adult nurse practitioner at the Elliot Breast Health Center, where she specializes in breast health exams, genetic testing, and high-risk screenings. With over 20 years of oncology experience, she also coordinates the Free Breast and Cervical Cancer Screening Program and presents locally and nationally on breast health topics.