Home / Science / Rare Gene Variant Fuels Lung Cancer Risk 62x
Rare Gene Variant Fuels Lung Cancer Risk 62x
26 Sep
Summary
- A rare gene mutation increases lung cancer risk 62 times for never-smokers.
- The EGFR T790M variant is linked to British and Irish settlers.
- This mutation is found in about one in 15,000 people nationwide.

A rare genetic mutation, EGFR T790M, has been identified as a significant risk factor for lung cancer, especially among non-smokers. Studies indicate that carriers of this variant face up to 62 times greater odds of developing the disease compared to those without it. This discovery challenges the traditional understanding that smoking is the primary driver of lung cancer.
The mutation's origins are linked to a shared ancestry from British and Irish settlers in Southern Appalachia approximately 200 to 225 years ago. While rare nationwide, affecting about one in 15,000 individuals, its prevalence is higher in specific areas of Southern Appalachia, reaching an estimated one in 2,000 people.
Researchers highlight that this mutation is one of the strongest cancer risk-increasing genetic factors ever found. They propose that genetic testing could potentially guide future lung cancer screening protocols, enabling earlier detection and treatment for individuals with the EGFR T790M variant. People with a strong family history of lung cancer or ties to the southeastern U.S. are encouraged to consult with genetic counselors.