This week’s cover of the journal Science features an illustration blending a human lung with a map of the United States, highlighting a significant gene mutation linked to lung cancer risk concentrated in the southeastern U.S. An international research team, including members from Harvard Medical School, studied genetic data from over 3.3 million individuals, revealing the germline EGFR T790M mutation’s strong association with lung cancer.
Key findings include:
- The mutation occurs in approximately 1 in 15,850 people.
- Carriers face a 25-fold increased risk of developing lung cancer, particularly among non-smokers.
- The T790M mutation appears to be lung cancer-specific, with no correlation found with other cancers or lung diseases.
- It is more prevalent in the southeastern U.S., likely due to a historical founder effect traced back roughly 200-225 years, particularly in the southern Appalachian region.
- Frequencies rise to about 1 in 2,078 in southern Appalachia, spreading to populations with African and Native American ancestry post-Civil War.
Researchers advocate for genetic testing for individuals with a family history of lung cancer or those of southeastern U.S. descent to better identify at-risk populations. This research underscores the importance of understanding the lifetime risk of lung cancer and optimizing screening practices for mutation carriers.
