Genetic Risk Factor
Rare Inherited Genetic Mutation Dramatically Increases Lung Cancer Risk for Nonsmokers
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Key Points
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The study examined an inherited, or germline, form of EGFR T790M that is present in every cell from birth; this differs from the more familiar tumor-acquired EGFR T790M mutation, which can help lung cancers resist treatment.
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Researchers found 641 carriers among more than 10 million 23andMe research-consented participants—about 10 times more carriers than had been identified in public databases such as gnomAD—helping establish the mutation’s prevalence more precisely.
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The mutation is believed to have been introduced to the United States by one or more people from the British Isles who settled in Southern Appalachia roughly 200 to 225 years ago, offering a possible explanation for its geographic concentration.
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Although the mutation is a powerful individual risk factor, researchers cautioned that its rarity means it probably accounts for only a small share of all lung cancer cases.
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The mutation may affect both prevention and treatment: Baylor genetic epidemiologist Chris Amos said testing could be considered for patients with a family history of lung cancer among nonsmokers, and that knowing a patient carries T790M can also influence treatment decisions after cancer develops.
Scientists have identified a rare inherited genetic mutation that dramatically increases lung cancer risk — even in people who never smoked. The EGFR T790M variant raises risk 62-fold for never-smokers and 11-fold for smokers, according to HitechHub. The mutation appears in roughly 1 in 15,850 people of European ancestry, with unexpectedly high rates in Southern Appalachia.
Researchers studied more than 3.3 million participants and found 641 carriers among 10 million 23andMe users — ten times more than previously documented in genetic databases. Newsy Today reports the findings could support genetic testing and personalized CT screening for people with family histories of lung cancer, though more research is needed to confirm screening benefits.
A Genetic Risk Factor Born in Britain
The EGFR T790M variant is an inherited mutation present in every cell from birth — different from the tumor-acquired version that helps some lung cancers resist treatment. Researchers believe the mutation originated in the British Isles roughly 200 to 225 years ago, spreading to America through settlers who moved to Southern Appalachia, particularly Alabama, Mississippi, and Tennessee.
This geographic clustering offers a rare window into human migration and genetic disease patterns. The concentration in Appalachia suggests a founder effect — when one or a few people carry a rare mutation into a new population, their descendants can show unexpectedly high rates of that variant compared to surrounding areas.
Nonsmokers Face Dramatically Higher Cancer Risk
Never-smokers carrying the T790M mutation were about 62 times more likely to develop lung cancer than noncarriers, according to HitechHub. Even smokers with the mutation faced roughly 11 times the risk of other smokers. The mutation affects the EGFR gene, which controls cell growth and division.
This makes T790M one of the strongest known inherited lung cancer risk factors on record. The finding is particularly important because lung cancer in nonsmokers is often overlooked — many assume only smokers develop the disease, missing early warning signs in vulnerable people.
Genetic Testing Could Guide Prevention and Treatment
Genetic epidemiologist Chris Amos from Baylor said testing could be considered for patients with family histories of lung cancer among nonsmokers. Knowing a patient carries T790M can also shape treatment decisions after cancer develops, potentially guiding doctors to more effective therapies tailored to the mutation.
Researchers caution the mutation is rare enough that it likely accounts for only a small share of all lung cancer cases. Still, for the estimated 64,000 Americans carrying the variant, genetic awareness and personalized screening could eventually save lives — though more studies are needed to establish how effective screening programs would be.
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