Study identifies powerful inherited risk factor for lung cancer
· News-MedicalPasi A. Jänne, M.D., Ph.D., co-senior author, Senior Vice President for Translational Research and lung cancer specialist at Dana-FarberFor years we've known that some families inherit a markedly increased risk of lung cancer, but because this variant is so rare, we've never been able to accurately measure that risk. By studying more than three million people, we were able to demonstrate just how strongly this inherited mutation is associated with lung cancer."
"Smoking is bad for lung cancer. This mutation is bad for lung cancer. When you do both, your risk is the sum of those two risks," Dr. Gusev said. "So, you definitely don't want to smoke."
"We found that the vast majority of carriers inherited the mutation from the same ancestral lineage," she said. "We could trace that lineage to British and Irish settlers in the United States and show that the mutation became enriched after a founder event and genetic bottleneck in Southern Appalachia about 200 years ago. It's a fascinating example of how human migration and genealogy can shape disease risk, generations later."
The researchers recommend that people with several family members who have had lung cancer, multiple lung nodules, multifocal lung cancers, or ancestral roots in areas of the southeastern U.S., where the variant is more common, consult a genetic counselor. A counselor can help determine whether genetic testing and regular lung cancer screening may be appropriate.
"We've built a research community where millions of people consent to take part and answer questions about their health year after year to accelerate meaningful discoveries," said Joyce Tung, Ph.D., Vice President of Research at 23andMe. "Finding a variant this rare, measuring what it does, and tracing where it came from are three different scientific challenges, and addressing all three takes genetic and health information in one place, at scale. We're grateful for what our participants made possible here."
"This groundbreaking discovery builds on a body of research into inherited lung cancer risk that GO2 and ALCMI helped advance," said David Benson, Chief Executive Officer of GO2. "The more we understand about inherited risk, the more knowledge patients, families, and clinicians have to make informed decisions. For people with a family history of lung cancer, that knowledge can be incredibly powerful. We are excited to see this science continue to grow and open new possibilities for earlier detection and, ultimately, saving lives."
Separately, the Susan Wojcicki Foundation is also continuing to recruit for the Lung Cancer Genetics Study, funded by the Foundation and powered by 23andMe. The study is investigating how genetics, environment, and other factors impact lung cancer risk and disease progression. Enrollment is open to anyone who has been diagnosed with lung cancer.
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