BRCA1 and BRCA2 Mutations: Should You Get Tested and What Do Results Mean?
Imagine your body has a repair team working silently every day. These workers fix tiny mistakes in your DNA before they grow into serious problems like cancer. BRCA1 and BRCA2 are two of the most important genes that run this team. But in some people, these genes carry a harmful change — called a mutation — that stops the repair work. When that happens, the risk of certain cancers rises sharply. Understanding what these mutations are, who should get tested, and what the results mean could one day save your life or the life of someone you love.
What Are BRCA1 and BRCA2 Genes?
Every human has two copies of the BRCA1 and BRCA2 genes — one inherited from each parent. These genes produce proteins that help repair damaged DNA. People who inherit a harmful change in one of these genes face increased risks of several cancers — most notably breast and ovarian cancer, but also several other types. People with BRCA mutations also tend to develop cancer at younger ages than those without such a change. National Cancer Institute
Think of these genes as a safety net. A healthy BRCA gene catches DNA errors before they become tumours. A mutated BRCA gene has a hole in the net — and dangerous cells can slip through. Carrying a BRCA mutation does not guarantee you will get cancer. It simply means your risk is significantly higher than average.
How High Is the Risk?
The numbers are sobering. Women who test positive for a BRCA1 or BRCA2 gene mutation can have up to a 72% risk of being diagnosed with breast cancer during their lifetimes. The average woman has about a 12% risk. Breastcancer.org
The ovarian cancer picture is equally serious. About 39% to 58% of women who inherit a harmful change in BRCA1 and 13% to 29% of women who inherit a harmful change in BRCA2 will develop ovarian cancer during their lifetime, compared to about 1.1% of women in the general population. Studies estimate that approximately 5% of all invasive breast cancers are linked to an inherited BRCA1 or BRCA2 mutation. National Cancer InstituteOncologynurseadvisor
Men are not exempt either. About 1.8% to 7.1% of men with an inherited harmful change in BRCA2 will develop breast cancer by age 70, compared to about 0.1% of men in the general population. Male BRCA carriers also face higher risks of prostate and pancreatic cancers. National Cancer Institute
Who Should Consider Getting Tested?
Not everyone needs a BRCA test. Genetic testing is recommended for people with a meaningful family or personal history of cancer. The 2025 National Comprehensive Cancer Network guidelines on genetic testing for breast cancer recommend that anyone diagnosed with breast cancer at age 50 or younger should have genetic testing specifically for mutations in the BRCA1, BRCA2, CDH1, PALB2, STK11, and TP53 genes. Breastcancer.org
In 2024, the American Society of Clinical Oncology and the Society of Surgical Oncology issued recommendations saying that anyone newly diagnosed with breast cancer who is aged 65 or younger should be offered BRCA1 and BRCA2 testing. Breastcancer.org
You should speak with your doctor about testing if your family history includes breast cancer before age 50, ovarian cancer at any age, multiple relatives on the same side with breast or ovarian cancer, a male relative with breast cancer, or a known BRCA mutation already found in the family. People of Ashkenazi Jewish descent have a higher carrier rate and may be advised to test even without a strong family history. According to the World Health Organization (WHO), early detection and prevention strategies — including genetic testing for high-risk individuals — are central to reducing the global burden of breast cancer.
How Is the Test Done?
Genetic testing requires a sample of blood. If a relative with breast or ovarian cancer is available, testing that relative’s BRCA genes first can provide valuable guidance for the rest of the family. Before testing, it is strongly advised to meet with a genetic counsellor — a trained specialist who explains the process, discusses what results might mean for you and your family, and helps you prepare emotionally for any outcome. You can find certified genetic counsellors through your hospital or through health information platforms like ObserverVoice.com. ACOG
What Do the Results Mean?
Your result will fall into one of three categories.
A positive result means a harmful mutation was found in BRCA1 or BRCA2. This does not mean you have cancer right now. It means your risk is elevated and you should build a monitoring and prevention plan with your doctor without delay.
A negative result means no BRCA mutation was detected. This is generally reassuring, but it does not eliminate all cancer risk. Other gene mutations and lifestyle factors can still raise your risk, so routine screenings remain important.
A variant of uncertain significance (VUS) means a gene change was found, but scientists do not yet know whether it is harmful. This outcome can feel frustrating, but as research grows, many VUS findings are eventually reclassified as either harmful or harmless.
What Can You Do If You Test Positive?
Testing positive is a starting point for action, not a dead end. If you test positive for a BRCA mutation, prevention options include screening tests, medications, and surgery. From age 25 to 29, annual breast MRI is recommended. Beginning at age 30, both MRI and mammography are recommended every year. ACOG
A medication called tamoxifen has been shown to reduce the risk of breast cancer in people with BRCA2 mutations by blocking the effects of oestrogen on cancer cells that respond to this hormone. ACOG
NCCN guidelines state that women with a BRCA mutation should have surgical removal of the ovaries and fallopian tubes by the age of 40, as this has been shown to reduce ovarian cancer incidence and all-cause mortality. These are major decisions that require careful discussion with both your medical team and your family. nih
Is Your Genetic Information Private?
Many people hesitate to get tested because they worry about discrimination by employers or insurance companies. In several countries, laws protect individuals from genetic discrimination. In the United States, the Genetic Information Nondiscrimination Act (GINA) prohibits health insurers and employers from using genetic test results against you. It is wise to understand the relevant laws in your country before proceeding with any test.
Frequently Asked Questions
Q1. Can men have BRCA mutations? Yes. BRCA mutations are inherited by both men and women. Men with BRCA2 mutations face elevated risks of breast, prostate, and pancreatic cancers, and can pass the mutation to their children.
Q2. If my parent has a BRCA mutation, will I definitely have it too? No. Each child of a BRCA carrier has a 50% chance of inheriting the mutation. It is not certain, which is why individual testing matters for every family member.
Q3. Is BRCA testing expensive? Costs vary by country. In many places, testing is covered by insurance or public healthcare when a patient meets clinical criteria. Home testing kits also exist, but always combine any test with guidance from a certified genetic counsellor.
Q4. Can a BRCA mutation appear to skip a generation? It can seem that way. A mutation may go unnoticed if family members who carry it never develop cancer or pass away from other causes before cancer appears. The mutation itself is either passed on or it is not.
Q5. Should children be tested for BRCA mutations? Most guidelines recommend against testing children for adult-onset conditions. The decision is typically deferred until adulthood so the person can make their own informed choice.
References
- National Cancer Institute — BRCA Gene Changes: Cancer Risk and Genetic Testing Fact Sheet
- BreastCancer.org — Genetic Testing for Breast Cancer
- American College of Obstetricians and Gynecologists — BRCA1 and BRCA2 Mutations
- European Journal of Cancer — Clinical Practice Guidelines for BRCA1 and BRCA2 Genetic Testing
- PMC / NIH — International Trends in Cancer Risk Reduction in BRCA Mutation Carriers
- WHO — Breast Cancer Fact Sheet
Disclaimer
This article adapts publicly available information from WHO’s Breast Cancer page. This content is for informational and educational purposes only and does not constitute medical advice. ObserverVoice.com is a news and information platform — not a healthcare provider.
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