Dr. Adi Gazdar
Two studies are providing new insight into germline epidermal growth factor receptor (EGFR) T790M mutation in familial non-small cell lung cancer (NSCLC). The findings suggest the need for tailored approaches for early detection and treatment, as well as for genetic testing to identify carriers.
"These studies now solidify the fact that routine clinical management of lung cancer now has to include the awareness of this inherited cancer syndrome," wrote David P. Carbone, MD, PhD, President-Elect of the International Association for the Study of Lung Cancer (IASLC), in an editorial
. The editorial accompanies the two articles in the April issue of the Journal of Thoracic Oncology
, the official journal of the IASLC.
In one of the two studies
, researchers found that germline EGFR T790M mutation results in a rare and unique lung cancer hereditary syndrome associated with an estimated 31% risk for the disease in never-smokers
. Lead author Adi Gazdar, MD, of the Department of Pathology, UT Southwestern Medical Center, Dallas, TX, and colleagues studied a family with germline EGFR T790M mutations over five generations (14 individuals) and combined their observations with data obtained from a literature search (15 individuals). They found that the mutation occurred in approximately 1% of NSCLCs and in less than one in 7,500 subjects without lung cancer.