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Rare Gene Mutation Skyrockets Lung Cancer Risk
18 Sep
Summary
- A rare genetic mutation, EGFR T790M, elevates lung cancer risk significantly.
- Carriers of the mutation face 62 times higher risk, even without smoking.
- The mutation may have originated in Europe and arrived in the US 200 years ago.

A newly identified genetic mutation, EGFR T790M, has been linked to a significantly elevated risk of developing lung cancer, even in individuals who have never smoked. Research published in Science analyzed data from over 3 million people, revealing that carriers of this rare mutation face a 62-fold higher risk of lung cancer compared to non-smokers without the mutation. When accounting for both smokers and non-smokers, the risk remains substantial, approximately 25 times greater than for those without the genetic variant.
The study also traced the mutation's origins, suggesting it arrived in the United States approximately 200 years ago, possibly brought by settlers to the Southern Appalachian region. This finding underscores that inherited genetics can be a potent factor in lung cancer development, independent of traditional risk factors like smoking. Researchers hope this discovery will pave the way for targeted genetic testing and lung cancer screening programs, allowing for earlier detection and intervention for those most at risk.