Rare genetic variant linked to lung cancer in never-smokers found in Appalachia
Researchers identified a rare genetic variant associated with significantly higher odds of lung cancer among never-smokers, particularly in Southern Appalachia, based on data from millions of people.
Study findings published in Science
Investigators reported that this specific genetic variant increases the likelihood of developing lung cancer by 25 times. The discovery was made possible by analyzing genetic information from 23andMe, which included health data from millions of individuals. Experts noted that while the variant is rare overall, it appears far more common in people living in Southern Appalachia compared to other regions.
Role in disease cases limited
Medical experts stated that this genetic factor likely contributes to only a small portion of lung cancer cases in people who have never smoked. The research suggests these tumors can be tied to distinct risk factors separate from smoking history. This evidence may require thinking differently about screening programs and treatment strategies for affected patients.
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