Rare inherited EGFR mutation raises lung cancer risk 62-fold in never-smokers, 25-fold in smokers

Researchers examined genotyping data from 23andMe covering 3.37 million individuals and found the T790M germline mutation in about one out of every 15,850 people.

The study reported that carriers of this rare EGFR variant face a 62 times higher chance of developing lung cancer if they have never smoked, and a 25 times higher chance if they do smoke, compared with the general population where smoking alone raises risk about fourfold.

The mutation showed a strong link only to lung cancer among the 17 cancers and non‑pulmonary conditions screened, and its origins were traced to southern Appalachian populations in the United States.

Experts noted that current lung‑cancer screening programs rely mainly on tobacco exposure and suggested that genetic testing for this variant could help identify additional high‑risk individuals for earlier detection and treatment.