Researchers have identified a rare inherited mutation in the Epidermal Growth Factor Receptor (EGFR) gene that is strongly associated with an increased risk of lung cancer, including among people who have never smoked.
The study analysed genetic and health data from more than 3.3 million people in the 23andMe database. The researchers found that carriers of the EGFR T790M mutation had about a 25-fold higher overall risk of developing lung cancer.
Stronger Association in Never-Smokers
Importantly, the association was even stronger among never-smokers. Carriers of the mutation were more than 60 times as likely to develop lung cancer as never-smokers without the mutation. Among smokers, the mutation was associated with about a 10-fold higher risk.
As per Economic Times, the findings could eventually help identify people at higher genetic risk and support more personalised lung cancer screening strategies. However, researchers noted that the mutation is rare and is likely to explain only a small proportion of lung cancer cases among never-smokers.
Implications for Screening
The findings, published in Science, raise the possibility that inherited genetic risk could eventually complement smoking history in determining who should undergo lung cancer screening. Researchers are now studying why some carriers develop cancer while others do not and how environmental exposures and additional genetic changes may influence risk.