Breast Cancer and Genetic Testing: Understanding Your Risk and Empowering Your Care

A breast cancer diagnosis can raise many questions about treatment, prognosis, and whether the disease may be hereditary. Genetic testing has become an important tool in helping patients and their families better understand inherited cancer risks, make informed healthcare decisions, and identify opportunities for personalized treatment.

Today, advances in genetic testing are providing valuable insights that can guide cancer prevention, screening, and treatment strategies for both patients and their relatives.

What Is Genetic Testing?

Genetic testing looks for inherited mutations, or changes, in genes that may increase a person’s risk of developing certain cancers. While most breast cancers are not hereditary, approximately 5% to 10% are linked to inherited genetic mutations.

The most well-known genes associated with hereditary breast cancer are BRCA1 and BRCA2, but researchers have identified several other genes that may also increase the risk of breast, ovarian, pancreatic, prostate, and other cancers. Today, many patients undergo comprehensive genetic testing panels that evaluate multiple genes at once.

Understanding whether an inherited mutation is present can provide important information not only for the patient but also for family members who may share similar risks.

Who Should Consider Genetic Testing?

Genetic testing may be recommended for individuals who have:

• A personal history of breast cancer, especially when diagnosed prior to the age of 50
• Triple-negative breast cancer
• Multiple family members diagnosed with breast, ovarian, pancreatic, or prostate cancer
• A known genetic mutation within the family
• Multiple cancers diagnosed in the same individual
• Male breast cancer

A genetic counselor can help determine whether testing is appropriate and explain what the results may mean for both patients and their relatives.

“Genetic testing isn’t just about identifying risk. It’s about providing patients and families with information that empowers them to make informed decisions about their health. Whether results reveal an inherited mutation or provide reassurance, genetic counseling helps individuals understand their options and navigate the next steps with confidence.”

— Michaela Verna, MS, CGC, Genetic Counselor, Maryland Oncology Hematology

How Genetic Testing Can Impact Treatment

For some patients, genetic testing can directly influence treatment decisions.

Certain inherited mutations may make patients eligible for targeted therapies designed to attack cancer cells with specific genetic vulnerabilities. Genetic information may also help guide surgical decisions, influence future screening recommendations, and identify opportunities to participate in clinical trials evaluating novel therapies.

As precision medicine continues to evolve, genetic testing is playing an increasingly important role in creating individualized treatment plans that reflect each patient’s unique situation.

Beyond the Patient: Protecting Family Members

One of the most valuable aspects of genetic testing is the opportunity to help family members better understand their own cancer risks.

When an inherited mutation is identified, relatives may be eligible for testing to determine whether they carry the same mutation. Family members who are found to be at increased risk can work with their healthcare providers to develop a personalized management plan that includes screening to detect cancer earlier and steps for risk reduction.

For many families, genetic testing provides knowledge that can benefit current and future generations.

The Importance of Genetic Counseling

Genetic testing is most effective when paired with genetic counseling. A genetic counselor helps patients understand whether testing is appropriate, what results may mean, how findings could affect medical management and make informed decisions about testing tailored their specific situations.

Results are not always straightforward. Some patients may receive positive results, while others may have negative findings or variants of uncertain significance. A genetics professional can help interpret these results and explain the implications for patients and their families.

Looking Ahead

As scientists continue to uncover the genetic factors that contribute to cancer, genetic testing is becoming an increasingly important component of breast cancer care. The ability to identify inherited risks, personalize treatment, and support family members through informed decision-making is helping shape the future of oncology.

At Maryland Oncology Hematology, our multidisciplinary team works closely with patients to provide access to genetic counseling and testing services when appropriate. By combining expert guidance with the latest advances in precision medicine, we help patients and their families better understand their risks and make confident decisions about their care.

To make an appointment: https://marylandoncology.com/personnel/michaela-verna-ms-cgc/