Rare genetic variant linked to much higher lung cancer risk in never-smokers

Researchers have discovered a very rare genetic variant that dramatically increases the odds of developing lung cancer among people who have never smoked. The study, published in Science, reports a roughly 25‑fold higher risk for carriers of the variant.

Analysis of a large dataset shows the variant is more prevalent in individuals from Southern Appalachia in the United States than elsewhere. Although the mutation is uncommon, its presence may explain a portion of lung‑cancer cases in never‑smokers.

The findings suggest that distinct genetic risk factors can drive tumor development in this population, which could influence future screening recommendations and therapeutic approaches. Experts caution that the variant likely accounts for only a small fraction of never‑smoker lung cancers, but it highlights the need for tailored research and clinical strategies.