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HealthQuiet 5d · day 7

Rare EGFR mutation tied to 25-fold lung cancer risk in nonsmokers

Researchers find genetic variant T790M particularly prevalent in Southern Appalachia, opening new screening possibilities.

newest coverage 4d agosummary written 6d ago36 pieces3 likes & upvotes1 comments NewswiresGoogle NewsMastodonRedditHacker News

What to know

  • A rare EGFR gene mutation called T790M raises lung cancer risk 25-fold overall and 60-fold among never-smokers, with highest prevalence in Southern Appalachia (1 in 2,000 vs. 1 in 15,000 nationally).
  • The finding emerged from analysis of 23andMe genetic data, demonstrating how large population datasets can identify previously unmeasurable genetic risk factors.
  • The discovery may reshape lung cancer screening to include genetic testing for high-risk carriers, similar to BRCA testing for breast cancer, though the mutation accounts for only a small portion of nonsmoker cases.
  • The T790M variant was first identified in a European family in 2005 but lacked sufficient population data to quantify its true impact until this study.

“The lung-cancer guidelines are not quite there yet, but it's a pretty clear path of what it could look like for people who are carriers of this mutation.”

Nadia Litterman, Executive director, Susan Wojcicki Foundation · Time ↗

Dr. Jaclyn LoPiccolo Lung cancer researcher, Dana Farber Cancer InstituteNadia Litterman Executive director, Susan Wojcicki Foundation23andMe Genetics company

Rare EGFR mutation tied to 25-fold lung cancer risk in nonsmokers
statnews.com

How it unfolded 2 developments, newest first · click a bar or a number to jump articlesposts

Peak 19 pieces in two hours at Sep 17, 12 PM; 36 pieces over 7 days (31 articles · 5 posts) Sep 17, 6 AM — 2 pieces · 2 articles — Google News 2Sep 17, 8 AM — quietSep 17, 10 AM — quietSep 17, 12 PM — 19 pieces · 16 articles · 3 posts — Google News 10, Newswires 6, Mastodon 3Sep 17, 2 PM — 4 pieces · 4 articles — Google News 4Sep 17, 4 PM — 2 pieces · 2 articles — Newswires 2Sep 17, 6 PM — quietSep 17, 8 PM — 1 piece · 1 article — Google News 1Sep 17, 10 PM — quietSep 18, 12 AM — quietSep 18, 2 AM — quietSep 18, 4 AM — 1 piece · 1 post — Reddit 1Sep 18, 6 AM — 1 piece · 1 article — Google News 1Sep 18, 8 AM — quietSep 18, 10 AM — 1 piece · 1 article — Newswires 1Sep 18, 12 PM — quietSep 18, 2 PM — quietSep 18, 4 PM — quietSep 18, 6 PM — 1 piece · 1 post — Hacker News 1Sep 18, 8 PM — quietSep 18, 10 PM — quietSep 19, 12 AM — quietSep 19, 2 AM — quietSep 19, 4 AM — quietSep 19, 6 AM — 4 pieces · 4 articles — Google News 4Sep 19, 8 AM — quietSep 19, 10 AM — quietSep 19, 12 PM — quietSep 19, 2 PM — quietSep 19, 4 PM — quietSep 19, 6 PM — quietSep 19, 8 PM — quietSep 19, 10 PM — quietSep 20, 12 AM — quietSep 20, 2 AM — quietSep 20, 4 AM — quietSep 20, 6 AM — quietSep 20, 8 AM — quietSep 20, 10 AM — quietSep 20, 12 PM — quietSep 20, 2 PM — quietSep 20, 4 PM — quietSep 20, 6 PM — quietSep 20, 8 PM — quietSep 20, 10 PM — quietSep 21, 12 AM — quietSep 21, 2 AM — quietSep 21, 4 AM — quietSep 21, 6 AM — quietSep 21, 8 AM — quietSep 21, 10 AM — quietSep 21, 12 PM — quietSep 21, 2 PM — quietSep 21, 4 PM — quietSep 21, 6 PM — quietSep 21, 8 PM — quietSep 21, 10 PM — quietSep 22, 12 AM — quietSep 22, 2 AM — quietSep 22, 4 AM — quietSep 22, 6 AM — quietSep 22, 8 AM — quietSep 22, 10 AM — quietSep 22, 12 PM — quietSep 22, 2 PM — quietSep 22, 4 PM — quietSep 22, 6 PM — quietSep 22, 8 PM — quietSep 22, 10 PM — quietYesterday, 12 AM — quietYesterday, 2 AM — quietYesterday, 4 AM — quietYesterday, 6 AM — quietYesterday, 8 AM — quietYesterday, 10 AM — quietYesterday, 12 PM — quietYesterday, 2 PM — quietYesterday, 4 PM — quietYesterday, 6 PM — quietYesterday, 8 PM — quietYesterday, 10 PM — quietToday, 12 AM — quietToday, 2 AM — quiet 1–2
Sep 18Sep 19Sep 20Sep 21Sep 22yesterdaynow · 3:50 AM ET
  1. 1

    Findings suggest need for revised lung cancer screening approach

    Experts note the discovery could reshape screening guidelines, which currently target only heavy smokers above a certain age. The Susan Wojcicki Foundation's executive director suggests genetic testing combined with environmental risk factors like radon exposure could create a new screening model similar to BRCA testing for breast cancer.

    “I do think that understanding your risk of lung cancer, especially from a genetic perspective, along with your exposures to things like radon and other environmental factors, would be really valuable.”
    — Nadia Litterman
    1. 1 outlet Study identifies powerful inherited risk factor for lung cancer

      first by News-Medical, 6d ago

    • STAT

      Researchers have identified a very rare genetic variant that is associated with higher odds of lung cancer in "never smokers." https://www. statnews.com/2026/09/17/rare-g ene-variant-boosts-lung-cancer-risk-25-fold-in-non-smokers/

      STATMastodon6d agoview on Mastodon ↗
  2. background

    Mutation prevalence highest in Southern Appalachia — The T790M variant, first identified in a European family in 2005, is found in approximately 1 in 15,000 Americans overall but reaches 1 in 2,000 in Southern Appalachia. Scientists believe the mutation originated from a single carrier who arrived from England or Ireland more than 200 years ago.

  3. 2

    Researchers publish findings on T790M mutation and lung cancer risk

    A team led by Dr. Jaclyn LoPiccolo reports in Science that a rare genetic variant T790M in the EGFR gene is associated with a 25-fold higher odds of lung cancer overall, and 60-fold higher risk among never-smokers. The research used 23andMe genetic data to determine the mutation's prevalence and impact across populations.

    “While we knew that T790M was associated with lung cancer, we didn't have a population large enough to determine how common the variant was, how strong its effect, and how the risk varies in different groups.”
    — Dr. Jaclyn LoPiccolo
    1. 16 outlets Rare EGFR Mutation Tied to Higher Lung Cancer Risk

      first by Mirage News, 6d ago · also The Seattle Times, Yahoo, Science | AAAS, NYT, NYT Health, NYT Science +9

      13 more headlines
    2. 7 outlets STAT+: Why do ‘never smokers’ get lung cancer? In some cases, rare genetic variant may be a factor

      first by STAT News, 6d ago · also TradingView, Boston Globe, STAT, Reuters, ET HealthWorld, The Indian Practitioner

      5 more headlines