DISCOVER YOUR RISK: UNDERSTANDING BREAST CANCER GENETICS

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The Basics of Breast Cancer Genetics

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It may surprise some to learn that every person has the BRCA1 gene, (pronounced “BRAH-kuh”) among many other genes that have been associated with cancer. The presence of these gene by itself does not mean you will develop cancer.

 

In fact, we all have many genes that help our bodies function, and BRCA1 is one of them. Problems arise only when there is a mutation, an alteration or change, in certain genes that disrupts their normal function.

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Why It Matters

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• BRCA1’s Role: When functioning correctly, the BRCA1 gene helps repair DNA breaks that can lead to cancer.

• Mutation vs. Normal Gene: Only mutated versions of BRCA1 (or other cancer-related genes) significantly increase your risk. This distinction is crucial for understanding personal health and risk factors.

• Did you know? BRCA stands for BReast CAncer gene. Both men and women can carry these genes and pass them down to children​

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While BRCA1 is often in the spotlight, several other genes can influence your likelihood of developing breast cancer—plus, new risk-associated genes continue to be discovered. Notable examples include:

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• BRCA2

  • Similar in function to BRCA1; responsible for DNA repair

  • Mutations can increase the risk of breast, ovarian, and prostate cancers

• TP53

  • Known as the “guardian of the genome” for its role in preventing abnormal cell growth

  • Mutations can lead to Li-Fraumeni syndrome, associated with multiple cancers

• PTEN

  • A tumor suppressor gene linked to Cowden syndrome

  • Increases risk of breast, thyroid, and endometrial cancers

• ATM

  • Plays a critical role in DNA damage response

  • Mutations can lead to increased breast cancer risk

• CHEK2

  • Involved in cell cycle regulation

  • Mutations can modestly increase breast cancer risk

• STK11

  • Associated with Peutz-Jeghers syndrome

  • Increases risk for breast, pancreatic, and gastrointestinal cancers

• PALB2

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Carrying a hereditary cancer gene mutation can raise the likelihood of developing more than just breast cancer. Some of the cancers associated with BRCA1, BRCA2, and other related genes include:

• Ovarian Cancer

• Prostate Cancer

• Pancreatic Cancer

• Male Breast Cancer

• Melanoma

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Why These Genes Matter

• Risk Assessment: Knowing whether you carry a mutation in one or more of these genes informs your breast cancer screening schedule, often leading to earlier and more frequent screening.

• Personalized Medicine: Genetic testing can guide individualized prevention and treatment strategies, such as risk-reducing surgeries, enhanced screening protocols, or targeted therapies.

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Ongoing Discovery
Researchers are continually uncovering new genes associated with inherited breast cancer risk. Staying informed about the latest developments in genetic testing is especially important for individuals with a strong family history of breast or related cancers 

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Genetic Testing & Counseling

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If you have a strong family history of breast, ovarian, or other associated cancers, consider genetic testing. A licensed genetic counselor can guide you through:

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Risk Assessment

• Reviewing personal and family medical history

• Evaluating the appropriateness of genetic testing\

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Types of Genetic Tests

• BRCA-only tests focus on BRCA1 and BRCA2

• Multigene panels screen for multiple genes simultaneously (BRCA, TP53, ATM, etc.)

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Test Interpretation

• Understanding positive, negative, or “variant of uncertain significance” (VUS) results

• Exploring implications for family members

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Action Plan

• Enhanced screening (e.g., earlier mammograms, breast MRI)

• Risk-reducing surgeries (e.g., mastectomy, oophorectomy)

• Lifestyle changes (diet, exercise, avoiding tobacco)​​​