A study, in which our Vanderbilt colleagues Georgia Wiesner, MD, MS (geneticist) and Kelly Taylor, MS, LCGC (genetic counselor) participated, was recently published about the inherited T790M EGFR mutation. Mutations in this gene lead to a higher risk or lung cancer and were found to be more common in the Southeast United States where there was shown to be a ‘founder effect’ (meaning that the mutation was more common because it came from a common ancestor hundreds of years ago and became more common in the population over time). Over half of individuals with this mutation were affected with lung cancer. This study demonstrates the importance of this EGFR mutation to lead to both a higher risk of lung cancer, as well as lung nodules. These findings also highlight the importance of identifying individuals and their family members to investigate lung cancer screening (through CT scans) in these individuals.
Oxnard, et al. J Clin Oncol. 2023. Online ahead of print. PMID: 37579253.