People with a rare EGFR T790M gene mutation face a dramatically higher risk of lung cancer—even if they never smoked.
Study Quantifies the Risk
A new Science paper reports that carriers of the EGFR T790M mutation have a 25‑fold greater chance of developing lung cancer compared with non‑carriers.
Among never‑smokers, the mutation raises lung cancer odds by about 62 times, the researchers found.
Population Impact
The mutation affects roughly one in 15,000 to 16,000 people nationwide, but prevalence climbs to as high as one in 2,000 in parts of Southern Appalachia.
Ancestral tracing links most carriers to British and Irish settlers who arrived in the region about 200 years ago, a founder event that amplified the variant.
Expert Insights
Study co‑author Jaclyn LoPiccolo, a lung cancer researcher at Dana‑Farber, said the findings suggest future screening could target genetic risk as well as smoking history.
“If further studies confirm the benefit, carriers could receive early CT scans when tumors are most curable,” she added.
Limits and Cautions
The analysis examined more than 3.3 million individuals, yet the rarity of the mutation means few carriers were identified, leaving the precise risk estimate uncertain.
Because the data relied heavily on 23andMe participants, the sample may not reflect the broader U.S. population, the authors warned.
No evidence shows that genetic testing improves survival or other health outcomes, the study noted.
Practical Recommendations
Individuals with a strong family history of lung cancer, multiple lung nodules, or Southern Appalachian ancestry should discuss genetic counseling and possible CT screening with a provider.
“Smoking compounds the mutation’s risk, so avoiding tobacco remains essential,” said quantitative geneticist Alexander Gusev, who described the mutation as one of the strongest cancer‑risk findings ever observed.
Melissa Rudy, senior health editor at Fox News Digital, reported that story tips can be sent to melissa.rudy@fox.com.
