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Study Identifies Powerful Inherited Risk Factor for Lung Cancer

Researchers found carriers of an inherited EGFR mutation had a 60-fold higher lung cancer risk among nonsmokers, pointing to genetic testing for screening.

  • On Thursday, a study published in Science found nonsmokers carrying the EGFR T790M mutation are 62 times more likely to develop lung cancer than those without it.
  • Researchers traced the mutation to British and Irish settlers from about 200 years ago, explaining why it became concentrated in Southern Appalachia following a founder event and genetic bottleneck.
  • Analyzing data from over 3 million research participants, investigators determined the mutation occurs in about 1 in 15,000 people nationally, but reaches 1 in 2,078 in Southern Appalachia.
  • Dana-Farber Cancer Institute researcher Jaclyn LoPiccolo said the findings "raise the possibility that screening could also be dictated by inherited genetic risk."
  • Scientists are now evaluating CT-based lung cancer screening in carriers while investigating why this mutation specifically affects lung cells and environmental factors like particulate-matter pollution.
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A genetic analysis of 3.3 million people identifies the most potent inherited characteristic of lung cancer found so far

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Researchers have reported that up to 20% of lung cancer patients have never smoked, suggesting that a rare genetic mutation could help identify and more closely monitor those at higher risk of developing the disease. A study analyzing data from over 3.3 million people in the 23andMe genetic database showed that a rare mutation in the epidermal growth factor receptor (EGFR) gene is associated with a significantly increased risk of lung cancer. C…

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STAT broke the news in Boston, United States on Thursday, September 17, 2026.
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