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

Knowing your genetic risk for cancer isn’t just about fear-it’s about control. If you’ve got a strong family history of breast, ovarian, colorectal, or other cancers, genetic testing can shift you from guessing to acting. It’s not science fiction. It’s medicine that’s already saving lives today.

What BRCA and Lynch Really Mean

When people talk about inherited cancer risk, two names come up again and again: BRCA and Lynch syndrome. These aren’t just buzzwords. They’re specific gene mutations that dramatically raise your chances of developing certain cancers.

BRCA1 and BRCA2 are tumor suppressor genes. When they work normally, they help fix damaged DNA. But if you inherit a harmful mutation in one of them, your body can’t repair DNA errors as well. That means cells can turn cancerous more easily. Women with a BRCA1 mutation have up to a 72% chance of getting breast cancer by age 80. For BRCA2, it’s about 69%. Ovarian cancer risk jumps to 44% for BRCA1 and 17% for BRCA2. Compare that to the general population: about 13% for breast cancer and less than 2% for ovarian. That’s not a small difference. It’s life-altering.

Lynch syndrome is different. It’s caused by mutations in genes like MLH1, MSH2, MSH6, PMS2, or EPCAM. These genes help fix mistakes when DNA copies itself. When they’re broken, errors pile up fast-especially in the colon and uterus. People with Lynch have up to an 80% lifetime risk of colorectal cancer. That’s way higher than the 4% average. Endometrial cancer risk can hit 60%. And it’s not just those two. Lynch also increases risk for stomach, ovarian, pancreatic, and even brain cancers.

Testing Has Changed-A Lot

Ten years ago, if you were worried about BRCA, you got tested for BRCA only. That’s it. Today, that’s outdated. Most doctors now use multigene panel testing. Instead of checking one or two genes, they look at 30 to 80 genes at once. This includes BRCA1/2, Lynch genes, and others like PALB2, ATM, CHEK2, and RAD51C-all linked to increased cancer risk.

Why does this matter? Because people often don’t know which gene is running in their family. A woman with early-onset breast cancer might assume it’s BRCA. But it could be PALB2. A man with colon cancer at 45 might think it’s just age. But it could be Lynch. Panel testing finds more answers. A 2023 study of nearly 40,000 people found that single-gene tests missed up to half of the harmful mutations that panels caught.

Testing is also faster and cheaper. Most labs now use next-generation sequencing, which reads your DNA in minutes instead of weeks. Blood or saliva samples are all you need. Turnaround time? Usually two to three weeks. And the accuracy? Better than 99% for spotting single-letter changes in DNA.

The Big Problem: Variants of Uncertain Significance

Here’s the catch. Not every change in your DNA is clearly good or bad. Some are just… unknown. These are called variants of uncertain significance, or VUS. A few years ago, about 1 in 8 people got a VUS result from a multigene panel. That meant a lot of anxiety with no clear answers.

But things are improving fast. In February 2025, researchers at the Mayo Clinic published a breakthrough. Using CRISPR-Cas9, they tested nearly 7,000 different BRCA2 variants in the lab. They figured out which ones caused cancer and which didn’t. The result? In the most critical part of the BRCA2 gene, VUS rates dropped from 12.7% to just 1.1%. That’s a game-changer.

Now, labs are using this data to reclassify old results. If you got tested in 2020 and got a VUS, there’s a good chance it’s been reclassified by now-probably to either “benign” or “pathogenic.” You might not even know it. That’s why it’s important to check back with your genetic counselor every couple of years.

Who Should Get Tested?

You don’t need to be a cancer patient to qualify. The National Comprehensive Cancer Network (NCCN) has clear guidelines. 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 multiple relatives with breast, ovarian, or colorectal cancer
• A close family member tested positive for a known cancer gene mutation
• You’re of Ashkenazi Jewish descent and have any family history of breast or ovarian cancer

Even if you don’t have cancer, but your family does, testing can help you take action. And it’s not just for women. Men with BRCA mutations have higher risks of breast, prostate, and pancreatic cancer. Lynch syndrome affects men and women equally.

What Happens After a Positive Result?

A positive test doesn’t mean you’ll get cancer. It means you’re at higher risk-and now you can do something about it.

For BRCA carriers, options include:

• Starting mammograms and breast MRIs at age 25-30
• Considering risk-reducing mastectomy (which can lower breast cancer risk by up to 95%)
• Removing ovaries and fallopian tubes by age 35-40 (cuts ovarian cancer risk by 80% and breast cancer risk by 50%)
• Taking drugs like tamoxifen or raloxifene to reduce risk

For Lynch syndrome:

• Colonoscopies every 1-2 years starting at age 20-25
• Endometrial biopsies for women starting at age 30-35
• Aspirin daily (shown to cut colorectal cancer risk by 50% in Lynch patients)
• Considering removal of the uterus and ovaries after childbearing

And here’s the best part: if you have a mutation, your cancer treatment can be smarter. For example, people with BRCA mutations often respond better to PARP inhibitors like olaparib. Those with Lynch syndrome may benefit from immunotherapy drugs like pembrolizumab. Genetic info isn’t just for prevention-it’s for treatment too.

What About Direct-to-Consumer Tests?

You’ve probably seen ads for 23andMe or MyHeritage saying they test for “BRCA.” That’s misleading. These tests only check for three specific mutations common in people of Ashkenazi Jewish descent. That’s it. They miss over 97% of BRCA mutations in other populations. If you’re not Ashkenazi Jewish and you get a “negative” result from a DTC test, you’re not safe-you’re just uninformed.

These tests also don’t include Lynch genes, PALB2, or any of the other 60+ cancer risk genes. They’re not designed for medical decisions. They’re designed for curiosity. Don’t rely on them for health planning.

Insurance, Privacy, and Costs

Many people worry about insurance discrimination. That’s why GINA (the Genetic Information Nondiscrimination Act) exists. It stops health insurers and employers from using your genetic data against you. It doesn’t cover life, disability, or long-term care insurance, though. So if you’re thinking about buying those, be aware.

Costs vary. In the U.S., Medicare and most private insurers cover testing if you meet NCCN criteria. Out-of-pocket costs for those without coverage can range from $250 to $500 for panels. Some labs offer payment plans. Re-testing for VUS reclassification? That can cost extra-around $250-so ask upfront.

Privacy? Labs follow HIPAA and NIST security standards. But there have been breaches. In 2024, over 400,000 people had their genetic data exposed in three separate incidents. Choose a reputable lab with a strong track record. Ask how they store and protect your data.

The Reality: Not Everyone Gets Tested

Despite how powerful this tool is, most people who qualify don’t get tested. Only about 33% of eligible cancer patients in the U.S. get genetic testing. The gap is wider in community clinics and among Black and Hispanic patients. Reasons? Lack of awareness, long wait times for counselors, cost barriers, and fear.

But things are changing. More cancer centers are embedding genetic counselors into oncology teams. Electronic health records now auto-flag patients who meet testing criteria. In 2025, 87% of U.S. cancer centers have integrated testing into their standard workflow. That’s progress.

What’s Next?

The future is coming fast. Researchers have identified over 380 DNA changes that affect how genes turn on and off in cancer. These aren’t single-gene mutations-they’re subtle switches that nudge your risk up or down. Soon, we’ll combine all of this into polygenic risk scores. Imagine knowing your overall genetic risk for breast cancer-not just from BRCA, but from hundreds of small signals added together.

Some experts believe we’ll eventually test everyone with cancer for germline mutations-not just those with a family history. Why? Because it changes treatment for everyone. And it helps their family members too.

But we’re not there yet. For now, the best thing you can do is talk to your doctor if you have a family history of cancer. Ask: “Should I be tested?” Don’t wait for someone to bring it up. Be your own advocate.

Genetic testing isn’t about predicting doom. It’s about gaining power. The power to screen earlier. To prevent. To choose. To live longer. And to protect the people you love.