EGFR T790M mutation significantly increases lung cancer risk in non-smokers

A large-scale study published in the journal Science has identified a rare inherited genetic mutation, EGFR T790M, that significantly increases the risk of lung cancer, particularly in individuals who have never smoked. Researchers from the Dana-Farber Cancer Institute and the 23andMe Research Institute analyzed genetic data from over 3.3 million participants to reach these conclusions.

For lifelong non-smokers, carriers of this germline mutation face a risk of developing lung cancer approximately 62 times higher than non-carriers. The mutation also increases the overall risk of lung cancer by about 25 times. Interestingly, the study found no link between this specific mutation and 17 other common types of cancer, suggesting its impact is largely restricted to the lungs.

The mutation appears to have a notable geographic concentration in the United States, specifically within the Southern Appalachia region. Researchers suggest that the findings could shift lung cancer screening protocols, which currently rely heavily on smoking history, toward including genetic testing to identify high-risk individuals for early, curable detection.