Genetic Testing for Cancer Risk: BRCA, Lynch, and Beyond

When you hear the word genetic testing, you might think of ancestry kits or fun facts about your DNA. But for people with a family history of cancer, it’s something far more serious-and potentially life-saving. Genetic testing for cancer risk isn’t about predicting the future. It’s about giving you power over it. If you’ve lost a parent to ovarian cancer, or a sibling was diagnosed with colon cancer in their 30s, this isn’t theoretical. It’s personal. And the science behind it has changed dramatically in the last five years.

What BRCA and Lynch Really Mean

BRCA1 and BRCA2 aren’t just names on a lab report. They’re genes that normally help fix damaged DNA. When they’re broken by an inherited mutation, your body loses a key defense against cancer. Women with a harmful BRCA1 mutation have up to a 72% chance of developing breast cancer by age 80. For BRCA2, it’s around 69%. Compare that to the general population’s 13% risk. Ovarian cancer risk jumps from less than 2% to 44% with BRCA1 and 17% with BRCA2.

Lynch syndrome is different. It’s not about breast or ovarian cancer primarily-it’s about colon, endometrial, stomach, and other cancers. It’s caused by mutations in MLH1, MSH2, MSH6, PMS2, or EPCAM. Someone with Lynch can have up to an 80% lifetime risk of colorectal cancer, depending on which gene is affected. That’s why people with Lynch often start colonoscopies at age 20-25, instead of 45 like everyone else.

These aren’t rare. About 1 in 400 people carry a BRCA mutation. Lynch is even more common-1 in 280. Most people don’t know they have it until someone in the family gets sick young.

Testing Has Changed-It’s Not Just One Gene Anymore

Ten years ago, if you had a strong family history, you got tested for BRCA1 and BRCA2 only. Now? That’s outdated. Most clinics use multigene panel testing, which looks at 30 to 80 genes at once. This includes not just BRCA and Lynch genes, but also PALB2, ATM, CHEK2, and others that raise cancer risk-some moderately, some significantly.

Why does this matter? Because in a 2023 study of over 38,000 people, nearly half of those with a harmful mutation didn’t have BRCA or Lynch. They had something else. If you’d only tested for BRCA, you’d have missed it.

But there’s a catch. The more genes you test, the more likely you are to get a result that says: “Variant of Uncertain Significance” (VUS). That means the lab found a change in the gene, but they don’t know if it causes cancer or not. In the past, VUS rates for panels were around 7-8%. Now, thanks to new research-like the 2025 Mayo Clinic study that analyzed nearly 7,000 BRCA2 variants using CRISPR-they’ve dropped to under 2% in key regions. That’s huge. It means fewer people are left hanging, wondering if they’re at risk.

Who Should Get Tested?

You don’t need to have cancer to qualify. The National Comprehensive Cancer Network (NCCN) guidelines say you should consider testing if:

• You were diagnosed with breast cancer before age 45
• You have ovarian, pancreatic, or metastatic prostate cancer at any age
• You have two or more close relatives with breast, ovarian, or colorectal cancer
• A family member has a known hereditary cancer mutation
• You’re of Ashkenazi Jewish descent and have any family history of breast, ovarian, or pancreatic cancer

It’s not about fear. It’s about action. A 2023 meta-analysis of over 12,000 people showed that those with BRCA mutations who had preventive surgeries-like removing breasts or ovaries-reduced their cancer risk by up to 80%. That’s not a small number. That’s life-changing.

What About Direct-to-Consumer Tests Like 23andMe?

They’re not the same. 23andMe’s FDA-approved test only checks for three specific BRCA mutations found mostly in people of Ashkenazi Jewish descent. That’s it. If you’re not from that background, you’re getting false reassurance. In fact, a 2024 study in the New England Journal of Medicine found that 97% of harmful BRCA mutations in non-Ashkenazi people would be missed by these tests.

These kits were never meant to be medical tools. They’re entertainment. Relying on them for cancer risk is like using a flashlight to check your car’s engine-you might see something, but you won’t know what you’re looking at.

What Happens After the Test?

Testing isn’t a one-time event. It’s a process. You need genetic counseling-before and after.

Before: A certified genetic counselor will map your family history, explain what the test can and can’t tell you, and help you decide if it’s right for you. This isn’t optional. It’s required by professional guidelines.

After: If you get a positive result, you’ll get a clear plan. For BRCA, that might mean starting mammograms and MRIs at 25, considering preventive surgery, or taking drugs like tamoxifen. For Lynch, it’s colonoscopies every 1-2 years, starting in your 20s, and sometimes endometrial screenings.

If you get a VUS? You don’t change your care plan. You stay on standard screening. And you’ll be notified if that variant gets reclassified later-something that happens more often now thanks to global databases like ClinGen.

Cost and Insurance

Medicare and most private insurers cover testing if you meet NCCN criteria. In 2025, approval rates were over 98%. The test itself usually costs between $250 and $500 out-of-pocket if you’re uninsured. Some labs offer financial aid.

But here’s the problem: insurance doesn’t always cover testing for relatives. If you test positive, your sibling or child might want to be tested too. That’s called cascade testing. And while NCCN says it’s standard care, 32% of people in online support groups reported being denied coverage for it. It’s a gap in the system.

What’s Next?

The future of genetic testing isn’t just about single genes anymore. Researchers have now identified over 380 DNA regions that control how genes turn on and off in cancer. These aren’t mutations-you can’t change them. But they help explain why two people with the same BRCA mutation might have very different cancer risks.

Soon, we’ll start combining these with traditional gene testing to create “polygenic risk scores.” Think of it like a weather forecast for your cancer risk-not just “you have a storm coming,” but “you have a 70% chance of a heavy downpour in the next 10 years.”

Right now, this is still research. But by 2030, it could be part of routine care. The goal isn’t to scare people. It’s to give them control.

Real Stories, Real Impact

One woman in her 40s, diagnosed with colon cancer, tested positive for Lynch syndrome. Her doctors added immunotherapy to her treatment-and she went into complete remission. That’s not magic. That’s science. Her mutation made her tumor more visible to her immune system.

Another woman, 28, tested positive for BRCA2. She had two young children. She chose to have her breasts and ovaries removed. She didn’t feel like she lost anything. She felt like she saved her life.

And then there are the ones who didn’t test. A 2024 study in JAMA Internal Medicine followed three people who got negative results on a panel test-then developed cancer years later. Turns out, their test missed a rare mutation because the lab didn’t analyze the whole gene. That’s why labs now confirm positive results with a second method, and why you need a specialist to interpret the results.

Don’t Wait for a Diagnosis

Cancer doesn’t always announce itself. But your genes might. If you’ve got a family history, or if you’ve had cancer young, don’t assume it’s just bad luck. Genetic testing isn’t about doom. It’s about preparation. It’s about knowing your options before you need them.

The tools are here. The science is solid. The guidance exists. What’s missing is the conversation.

If you’re unsure where to start, talk to your doctor. Ask if you qualify for genetic counseling. Don’t wait for someone else to get sick. The next person who needs to know might be you.