When people hear about “breast cancer genes”, BRCA1 and BRCA2 are usually the first names that come up. These two genes are important; harmful changes or mutations in them can greatly raise the risk of breast and ovarian cancer. But the BRCA genes are only a part of the breast cancer puzzle. Thanks to advances in genetic testing, doctors now understand that there are several other genes that can affect breast cancer risk. Looking at this wider set of genes, and not just BRCA, can give patients and families a more complete picture of their health and prevention or treatment options. Other Genes That Matter PALB2: This gene works closely with the BRCA2 gene on repairing damaged DNA. Some harmful mutations in PALB2 can raise the risk of breast cancer almost as much as BRCA mutations do. Wemen with these mutations are often offered extra screening. CHEK2This gene regulates cell division. Some mutations in the CHEK2 gene can increase the risk of breast cancer, though usually not as strongly as mutations in the BRCA or PALB2 genes. People with CHEK2 mutations may need to start screening earlier (around 40 years of age) or have more frequent mammograms and magnetic resonance imaging (MRIs). ATMThis gene is involved in repairing damaged DNA. Harmful mutations in the ATM gene can raise breast cancer risk, usually to a moderate degree. TP53, PTEN, AKT1Although mutations in these genes are rare in breast cancer cases, they are important, as such mutations not only increase the risk of breast cancer but also raise the chances of other cancers (like stomach, thyroid, or colon). Families with these mutations often need personalized screening plans. Why These Genes Matters Looking beyond the BRCA genes has real benefits: Better screening and prevention If you carry a high-risk mutation (in the PALB2 or TP53 genes), doctors may recommend breast MRIs every year starting at a younger age (as early as 25–30 years), or even discuss preventive surgery. With moderate-risk mutations (like in the CHEK2 or ATM genes), you might not need preventive surgery, but extra screening could help catch cancer earlier. Treatment options Some genetic changes can affect how a tumor responds to certain drugs. For example, cancers linked to BRCA or PALB2 mutations may respond well to PARP inhibitors, a type of targeted therapy. Knowing your genetic status can help doctors choose treatments that work best for your cancer type. Family impact If you test positive for a mutation, your relatives can also be tested. If they carry the same mutation, they can take steps early, like increased screening or lifestyle changes, to detect cancer early, if it occurs. Things To Keep In Mind Uncertain results: Sometimes genetic testing can find a “variant of uncertain significance” or VUS. This means that it’s not clear if the mutation is harmful or not based on scientific data worldwide. These results can be confusing, but most VUS findings turn out not to be harmful over time. Different risksNot all gene mutations carry the same level of risk. Some are high, some moderate. Doctors combine genetic results with family history and personal health factors to make recommendations. Ongoing updatesScience is moving quickly. What’s considered uncertain today may be better understood in a few years. Staying in touch with your doctors and genetic counselors can keep your healthcare plans up to date. What Can You Do? Ask about genetic testing if you or your family members had breast cancer at a young age, ovarian cancer, male breast cancer, or multiple relatives with breast, prostate, or pancreatic cancer, ask your doctor about genetic risk and testing. Don’t stop at testing for BRCA genes: Multigene panels are now widely available and can uncover risks that single-gene BRCA tests may miss. Get genetic counseling: A trained and BGCI certified genetic counselor can explain what your results mean for you and your family, help manage uncertainty, and guide decision-making. Stay proactive: Even if you don’t carry a harmful mutation, healthy lifestyle choices and regular screening are powerful tools for lowering the risk of cancer. The Bottom Line BRCA1 and BRCA2 genes are only 2 chapters of the hereditary breast cancer story. Genes like TP53, PALB2, CHEK2, ATM, and others also play an important role. Broad genetic testing can give a fuller picture of risk, guide treatment, and empower families to take preventive steps. Knowledge is power—and by looking beyond BRCA, patients and families can make more informed choices, protect their health, and support one another.
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