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News
One inherited mutation, massive risk. A large study of over 3 million people found that the EGFR T790M germline variant raises lung cancer risk 25 times overall — and a staggering 60 times in people who have never smoked. Researchers say it may be one of the strongest cancer risk-increasing mutations ever identified, outpacing even smoking as a risk factor.
One inherited mutation, massive lung cancer risk
A landmark study published in Science has identified the inherited EGFR T790M mutation as one of the most powerful cancer risk factors ever discovered. Researchers from Dana-Farber Cancer Institute, partnering with 23andMe, analyzed data from more than 3.3 million people of European ancestry and found that carriers of this germline variant face a 25-fold higher risk of developing lung cancer overall — dwarfing the risk conferred by smoking alone.
The effect is even more dramatic in never-smokers, where the mutation drives a 60-fold increase in risk. Importantly, the variant showed no association with 17 other cancer types or non-cancerous lung conditions, making it uniquely lung-specific. The mutation is rare (about 1 in 15,850 people overall), but is notably more common in parts of the Southern Appalachian U.S. — likely due to a founder effect roughly 200–225 years ago.
By the Numbers
Why it matters: Current lung cancer screening guidelines are built around smoking history, potentially missing up to 65% of patients who develop the disease. Identifying high-risk genetic carriers like EGFR T790M could open the door to expanded, genetics-based screening programs — catching cancers earlier, when they're most treatable.
