Rare EGFR T790M Variant Raises Never-Smokers' Lung Cancer Risk 25-Fold, Clustering in Southern Appalachia
Updated
Updated · The Boston Globe · Sep 17
Rare EGFR T790M Variant Raises Never-Smokers' Lung Cancer Risk 25-Fold, Clustering in Southern Appalachia
3 articles · Updated · The Boston Globe · Sep 17
Summary
641 carriers found among more than 10 million 23andMe participants had 25 times higher lung cancer risk overall, and never-smokers with the variant were about 60 times more likely to develop the disease.
Science-published researchers said the inherited EGFR T790M variant is extremely rare—about 1 in 15,000 people in the U.S.—but reaches roughly 1 in 2,000 in parts of Southern Appalachia.
The study found no increased risk across more than a dozen other tumor types, suggesting T790M creates a narrow but profound inherited susceptibility tied specifically to lung cancer.
Dana-Farber researchers traced the variant to Britain or Ireland and said it likely spread into the U.S. South 200 to 225 years ago before following later migration patterns.
Experts said most never-smoker lung cancers still are not caused by T790M, but the finding could help refine family-history assessments and future screening for high-risk never-smokers.