Redefining Risk: TIME Magazine Highlights New Research on Inherited Lung Cancer Risk

Frank McKenna's only symptom was a small cough. He had never smoked, and he had no reason to think radon or other environmental exposures played a role in how he was feeling. In 2016, at 66, he learned he had stage IV lung cancer, and, later, a rare inherited mutation that may help explain why. Last month, TIME Magazine told his story as part of its coverage of new genetic research on lung cancer risk.

The study, published in Science, comes from researchers at Dana-Farber Cancer Institute and the 23andMe Research Institute. They set out to study a rare inherited mutation in the EGFR gene, known as T790M, which had previously been identified in small studies of families with multiple cases of lung cancer. The researchers analyzed genetic data from more than 3.3 million people, finding that carriers had a 25-fold increased risk of developing lung cancer than people without the mutation. Among people with no smoking history, that risk climbs to roughly 60-fold.

Researchers also traced the mutation's history. It's rare overall (about 1 in 15,000 people nationally carry it), but the team found it can be as common as 1 in 2,000 people in some areas of the Southeastern United States. The researchers attribute this finding to a phenomenon called a founder event, when a small group of people (or founders) is isolated from the larger population, allowing an otherwise rare genetic variant to become more common in the small group. In this case, the founder event happened in the Southern Appalachian region roughly 200 years ago.

It’s important to know that the inherited EGFR mutation the researchers studied is not the same as the EGFR mutations that drive EGFR-positive lung cancers. Most EGFR-positive lung cancers are driven by mutations that occur only in the tumor and cannot be passed down to children. For more information about the differences between inherited and spontaneous EGFR mutations, read our blog post. 

Some of the data included in this analysis came from participants in the Lung Cancer Genetics Study (LCGS), which is funded by the Foundation and powered by 23andMe in collaboration with 22 lung cancer advocacy organizations. One goal of the LCGS is to better understand how genetics, environment, and other factors shape lung cancer risk. As our executive director, Nadia Litterman, explained to TIME, understanding genetic risk alongside factors like radon exposure and smoking history is an important piece of a much larger picture. She pointed to BRCA testing for breast cancer as one possible model for what routine genetic risk assessment could someday look like for lung cancer.

Findings like these help build a future where more people understand their personal risk for lung cancer long before a diagnosis, not after one. 

Read TIME's full coverage.

We recognize that findings like this may raise a lot of questions for people living with lung cancer and their families. For answers to frequently asked questions about this research and additional resources, please read our blog.

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