Ask the Oncologist (#2): Cancer Risk Genes
Who’s Managing Your Screening Plan?
Cancer Risk Genes: Who’s Managing Your Screening Plan?
This question comes from Curative subscriber
:“If someone tests positive for a gene like PTEN or ATM, one that raises the risk for multiple cancers, who is supposed to manage all of that? Most people don’t have five different specialists keeping track of everything.”
She’s right. Genetic testing results can be overwhelming. These tests are becoming more accessible, and in many ways, that’s a step forward. More people are getting results through direct-to-consumer testing, sometimes without ever stepping into a clinic. We’re uncovering risk earlier and giving people more time to take action. While that kind of access can be valuable, we also need to be careful. Without a clear plan to follow up on, those results can create more questions than answers. It’s not always obvious what to do next or who is supposed to help.
A quick background on genetic testing and cancer
Some cancers happen by chance, but others run in families. Inherited mutations in certain genes can raise the lifetime risk of developing specific types of cancer. Genetic testing looks for these mutations and helps guide decisions around screening and prevention.
In the past, most testing focused on BRCA1 and BRCA2. Now, multi-gene panels can identify inherited changes in dozens of genes linked to a variety of cancers. This has expanded what we can detect, but it has also made follow-up more complex.
Testing is typically recommended for people with early-onset cancer, rare cancers, more than one cancer, or a strong family history. When a mutation is found, it can help shape follow-up care for both the individual and their relatives.
A positive result means it’s time to make a plan
Not every gene mutation carries the same level of risk. Some raise the risk only slightly. Others increase the chances significantly and call for earlier or more frequent screening, or even preventive interventions. Understanding the level of risk is key to building a thoughtful, personalized plan.
Here are a few examples:
PTEN mutations are linked to Cowden syndrome and can increase the risk of breast, thyroid, uterine, colon, kidney, and brain cancers
TP53 mutations, often associated with Li-Fraumeni syndrome, are tied to a broad range of cancers, often at younger ages
ATM mutations can increase the risk of breast and pancreatic cancer, and sometimes other cancers depending on the variant
CHEK2 mutations are more common and usually carry moderate risk, especially for breast and colon cancer
If you’ve had genetic testing, I can’t stress this enough — talk to a genetic counselor. I’ve seen how much clarity and peace of mind that conversation can bring. They’ll take the time to explain what your specific mutation means, look at your family history, and help you understand what’s worth worrying about and what isn’t. They’ll also give you a written plan that lays out what screenings to consider and when. If you haven’t spoken with one yet, ask your doctor or testing company how to get connected. Many offer virtual visits now, so it’s easier than ever to get the support you need.
Screening plans should be tailored to you
Once you understand your risks, the next step is building a plan that fits. Depending on the mutation, your care plan may include:
Annual breast MRI in addition to mammograms
Colonoscopies at younger ages and more frequent intervals
Regular skin checks with a dermatologist
Thyroid ultrasound
Screening for pancreatic or kidney cancer in specific situations
There are national guidelines, including those from the National Comprehensive Cancer Network (NCCN), that outline gene-specific screening recommendations. These are updated regularly and based on the best available evidence.
Who is supposed to manage all of this?
This is where things can get unclear. There isn’t a single specialty that oversees every aspect of hereditary cancer risk. A good plan should be personalized, taking into account your mutation, age, health history, and family background. The goal is to detect cancer early when it's most treatable, while avoiding unnecessary testing. Ideally, people with inherited mutations would be followed by a high-risk cancer clinic, a cancer prevention program, or a precision oncology team. These programs are available at many larger cancer centers and are built to help coordinate care for individuals with complex, multi-system cancer risks.
These clinics often include a team of genetic counselors, physicians, nurse practitioners, and care navigators who work together to keep your screenings and referrals on track.
Again, if you don’t live near a major center, many of these programs now offer virtual visits. A one-time consultation might be enough to help clarify your next steps and connect you with resources in your area.
Some online direct-to-consumer testing companies, like Color Genomics, offer virtual genetic counseling and support to help patients understand their results and develop a screening plan.
If you are not connected to a specialized program, your primary care doctor can still help carry out the plan. With a written summary from the genetic counselor, they can help schedule screenings and make referrals as needed. Most often, this becomes a team effort. The genetics counselor provides the roadmap, your doctor helps implement it, and you take an active role in making sure it stays on track.
Keep everything visible and up-to-date
Even with a strong plan in place, things can fall through the cracks. I always recommend getting a copy of your test results and your screening recommendations in writing. Take a picture of results, and share them with every provider involved in your care, including your primary care doctor, OB-GYN, GI specialist, dermatologist, etc
It also helps to track your screenings yourself. A calendar reminder or notes app works just fine. Know what you're due for and when. And check in every few years to make sure your plan still fits your current situation and the latest guidelines.
The bottom line
Testing positive for a hereditary cancer gene gives you the chance to take charge of your health. When managed well, that knowledge can lead to earlier detection, smarter screening, and even prevention.
You don’t need five different specialists. You need a clear, personalized plan and someone to help you follow it. That might be a genetics clinic, a high-risk program, your primary care doctor, or a combination of all three. What matters most is that you feel supported and that there’s a plan in motion.
If you’ve had genetic testing and aren’t sure what comes next, ask your doctor. Reach out to a cancer prevention clinic. Many programs offer virtual visits, so help may be closer than you think.
Below I’ve listed some resources that might also be helpful.
Resources:
Cancer Genetics Explained | Ambry Genetics
Yes to all the above. I am proud to be a member of a Cancer Prevention team to help our patients navigate these screenings and education. Thank you for shedding light on this!! Appreciate what you do, Dr. Flora!
Great discussion...especially where you bring attention to the murky area of who should be stepping forward to manage this risk and/or initiate referral