When Jeanne Szurek, 69, was diagnosed with stage IV epidermal growth factor receptor (EGFR)-positive lung cancer in 2024, she wondered if her two adult children were at a higher risk of developing the disease. Lung cancer with the EGFR mutation is a type of non-small-cell lung cancer (NSCLC).
“I was being wheeled into the infusion room for my first chemotherapy treatment when the nurse stopped me and said my tumor biomarker testing had come back,” says Szurek, a patient advocate who lives in St. Paul. “The doctor wanted to talk to me about the results.”
Her doctor told her the EGFR-positive diagnosis was good news because:
- She could take a targeted therapy specifically made to treat the EGFR gene mutation, such as osimertinib (Tagrisso).
- Osimertinib works very well against metastatic NSCLC cancer with the EGFR gene change.
“I was relieved to hear that, but I also worried when he said the words gene mutation,” Szurek says. “I wanted to know if I had hereditary lung cancer, and, if so, what that would mean for my kids.”
What’s the chance of passing on the EGFR mutation?
If you have EGFR-positive lung cancer, you may think about your family’s health as well as your own. But most lung cancers with the EGFR gene mutation don’t pass on to your children.
“The vast majority of EGFR-positive lung cancers aren’t hereditary,” says Sarah Goldberg, MD, a thoracic oncologist at the Yale School of Medicine in New Haven. “And there are very effective, targeted treatments available.”
Who’s at Risk for EGFR-Positive Lung Cancer?
Up to 15% of NSCLCs in the U.S. have the EGFR mutation. The protein normally helps your cells grow, but after an EGFR gene change (mutation), too much cell growth causes lung cancer.
Anyone can develop EGFR-positive NSCLC, but your risk is higher if you are:
- Asian
- Female
- Someone who never smoked
- Under the age of 50
In fact, about half of the lung cancer cases with EGFR mutations are found in young adults.
How to tell if you have EGFR-positive lung cancer
If you’re diagnosed with lung cancer, ask your doctor about biomarker testing. They can do a biopsy — a procedure that takes tissue from your tumor to test for biomarkers and gene mutations inside your cancer cells.
Your doctor can also do a liquid biopsy using blood or other body fluids for testing. This may be done even if your cancer care team doesn’t suspect hereditary lung cancer. There are many types of EGFR mutations, but some common ones include EGFR:
- Exon 19 deletions
- L858R point mutations
They are treated with certain targeted medicines called tyrosine kinase inhibitors (TKIs), which include:
- Afatanib (Gilotrif)
- Dacomitinib (Vizimpro)
- Erlotinib (Tarceva) alone or with another targeted therapy
- Gefitinib (Iressa)
- Lazertinib (Lazcluze) with amivantamab (Rybrevant)
- Osimertinib (Tagrisso) alone or with chemo
Amivantamab is a man-made antibody medicine that targets EGFR mutations. Some rare mutations, such as the EGFR exon 20 insertions, don’t respond to regular treatments. So, ask your doctor to find out which type of mutation you have. That way, you and your cancer care team can come up with the best treatment for your EGFR-positive lung cancer.
What EGFR-Positive Lung Cancer Means for Your Family
Most family members don’t have a higher risk of developing lung cancer because of your EGFR mutation. This gene change most often happens by chance inside your cancer cells and isn’t passed on to others.
“EGFR-positive lung cancer is usually due to a spontaneous mutation that’s happened within your lung cells at some point in your lifetime,” Goldberg says. “We don’t know why this happens, and you didn’t do anything to ‘cause’ your cancer.”
The one exception
There is one EGFR mutation called T790M, which is very rare. Only about 1% of people with NSCLC have the EGFR T790M mutation.
“We usually see this mutation in people whose cancer has recurred because they have developed resistance to certain targeted therapies,” says Helena Yu, MD, a thoracic medical oncologist at the Memorial Sloan Kettering Cancer Center in New York City. “It’s very unusual to see the T790M mutation in the first biomarker testing that’s done at diagnosis.”
Testing for genetic lung cancer
If your first biomarker test shows that you have a T790M mutation, you’ll get special genetic testing done. “When the mutation does show up, we’re more suspicious that it’s a germline, or inherited, mutation,” Yu says.
That means it’s not just inside your cancer cells. Your eggs or sperm can also pass the T790M mutation on to your family. If you have hereditary lung cancer, genetic testing can tell you about your family’s risk for it. “It’s a different test that’s usually done via blood or saliva,” Yu says.
Your doctor may also refer you to a genetic counselor. They’ll talk to you about what the test means for you and your family. Szurek was relieved to talk to her doctor and learn that her EGFR-positive lung cancer was not likely inherited.
“Since I had no family history of lung cancer in any close relatives, including my parents and grandparents, my medical team didn’t feel that I needed to do anymore genetic testing,” she says.
Germline EGFR-Positive Lung Cancer
If you have a germline EGFR mutation, you might think about your family’s risk for lung cancer. But even if a family member has the same mutation, that doesn’t mean they’ll develop lung cancer, Yu says.
“Not all people with this inherited gene mutation end up with hereditary lung cancer,” she says. If you have the germline gene mutation, you’re called a carrier.
The INHERIT study looked at close relatives of people who had EGFR-mutated lung cancer with a germline mutation. The study found that a little over half of the close relatives who carried the EGFR germline mutation usually developed lung cancer by age 60.
If you carry an EGFR germline mutation, Yu suggests that your first-degree relatives get genetic testing. That includes your parents, kids, and siblings. “They can be tested and screened for lung cancer,” Yu says.
Yu says that a patient was tested over 10 years ago for a germline EGFR mutation. “When we tested her close family members, we learned that both her mother and daughter had the mutation,” Yu says. “We actually discovered metastatic lung cancer in her mother.”
How to check for lung cancer
The American Cancer Society suggests yearly low-dose CT scans to screen for lung cancer if you:
- Are 50-80 years old
- Smoke or used to smoke
- Have at least a 20 pack-year history
Carriers for the germline EGFR mutation can also get screened for lung cancer using low-dose CT scan. But it’s not clear how often you’ll need a repeat scan.
There aren’t any official statements on monitoring people with germline EGFR mutations. “It’s not like the BRCA gene, where there are clear guidelines on screening and prevention for carriers,” Yu says. “These mutations are so rare, they’re even hard to study for making recommendations.”
How to Explain EGFR Lung Cancer to Your Family
Most EGFR mutations stay inside your lung cancer cells and aren’t passed on to other family members. So, you might focus on how the EGFR gene change affects your treatment choices. “There doesn’t appear to be a greater risk for close relatives, unless you have a strong history of hereditary lung cancer,” Yu says.
Talking about inherited lung cancer
If you have a germline mutation like EGFR T790M mutated-lung cancer, you may want to let your family know. This rare type of lung cancer is caused by a gene change found in your eggs or sperm. “We think these mutations are autosomal dominant, which means you have about a 50% chance to pass it on to your children,” Yu says.
Here are some tips for sharing this news:
Make a list. Consider which family members you’d like to tell. Your genetic counselor or doctor can help you decide whom to contact and put on your list.
Broach the topic. Your family may want to know about the type of lung cancer you have and what your treatment options look like. You can use this time to talk about your specific mutation and what that means. Think about explaining any lung cancer risks that close relatives might possibly have and how testing can help.
Create a family letter. You and your genetic counselor can write a letter about your specific gene mutation. The letter can help your family understand how the mutation gets passed on and affects their lung cancer risk if they’re carriers.
Encourage a meeting with your genetic counselor. Your family can also meet with your genetic counselor. This gives them a chance to talk about testing and decide if it’s right for them.
Be prepared for any reaction. Finding out about lung cancer can bring up many emotions, such as anger or fear. If you’re talking to a parent, guilt about passing the mutation on can also surface. Your doctor or genetic counselor can share with you some possible reactions to expect. This can help you prepare.
Follow up. Give loved ones time to think over the information, but help them be accountable, too. Check back in with them after a couple of weeks to see if they have more questions or need help to make an appointment with your genetic counselor.
I Don’t Have a Family History of Lung Cancer. Do I Still Need Testing?
Maggie McCloskey, 64, was diagnosed with stage IV EGFR-positive lung cancer in 2021. She didn’t have any living first-degree relatives (such as parents or children), but she found it helpful to talk to her extended family about their lung cancer risk.
“We’ve had other cancers in our family, like breast, prostate, and colon cancer," McCloskey says. “So, they wanted to know if it could all be related.” She was able to reassure her family that her lung cancer most likely wasn’t passed on and is unrelated.
Molecular testing to find lung cancer gene mutations
Your doctor tests for certain gene mutations during your biopsy, such as EGFR. This testing helped McCloskey manage her cancer after she was first diagnosed with it and went on osimertinib (Tagrisso).
When her cancer recurred in 2023, her doctor repeated the testing and found another mutation that made her lung cancer resist treatment. Sometimes, your lung cancer mutates again, and treatment stops working.
So she switched treatments to the EGFR-inhibitor lazertinib (Lazcluze) combined with amiventamab. This worked for a couple of years, until another test showed a second resistance mutation.
Next, her doctor put her on a therapy called telisotuzumab vedotin (Emrelis), which targets the MET mutation.
“Molecular testing benefits all lung cancer patients,” McCloskey says. “It allows you to opt for the most effective targeted treatment that’s currently available.” Your doctor can do these tests using a small piece of tissue taken during a biopsy or surgery for lung cancer.
If the tissue sample is too small, your doctor may instead take blood for testing. “Molecular testing provides reassurance to your family,” McCloskey says. “They may not be at increased risk, but they are still worried about you.”
