The Mark Foundation for Cancer Research shared on LinkedIn:
“How do our genes shape our lung cancer risk?
We’ve long known that exposure to things like air pollution or smoking increases lung cancer risk.
Now a landmark study reveals that in some cases, the answer lies in a single, rare inherited mutation found predominantly in Southern Appalachia.
In The New York Times, reporter Gina Kolata covers a landmark study published in Science Magazine, detailing how Mark Foundation Drug Discovery grantee Pasi Jänne and his colleagues at Dana-Farber Cancer Institute used an unconventional approach to measure the mutation’s impact.
Scientists first identified the inherited EGFR T790M variant in lung cancer patients in 2005, but its rarity made it impossible to quantify its risk.
Two decades later, Jänne and his coauthors had a novel idea:
To search for the variant among millions of 23andMe users who had agreed to share their DNA with researchers.
Analyzing the massive dataset allowed the team to identify 641 carriers and trace the variant back over two centuries to settlers from the British Isles.
Most importantly, it proved that the mutation predisposes carriers exclusively to lung cancer, raising risk an astounding 62-fold in non-smokers.
It ranks among the most potent cancer-predisposing alleles ever documented.
Speaking to the Times, Mark Foundation Chair of the Board Ray DuBois highlighted the clinical stakes: identifying powerful genetic drivers like this opens the door to earlier detection for high-risk individuals and lays the groundwork for future cancer prevention strategies.
This is especially important in the case of lung cancer, for which screening criteria are often based on smoking history.
Separate from this work, Dr. Jänne is also tackling lung cancer from the other end of the scientific pipeline.
His Mark Foundation Drug Discovery Award project, with Michael Eck and David Scott, led to the development of a next-generation EGFR inhibitor targeting resistant non-small cell lung cancer that is currently advancing toward a Phase 1 clinical trial.
Read The Full Feature in The New York Times.
Learn more about Dr. Jänne’s Drug Discovery Award.”
You can also read: Miguel Bronchud: New Data on Germline EGFR T790M and Non-Smoker Lung Cancer Risk
