Researchers described a new familial lung cancer caused by an inherited mutation in EGFR in a study published in the Journal of Clinical Oncology. Geoffrey R. Oxnard, MD, and colleagues enrolled patients with lung cancer whose tumor profiling harbored possible germline EGFR pathogenic variants (PVs) and their relatives, in person or remotely. During a 5-year period, 141 participants enrolled in the study, including 71% remotely. Researchers tested 116 participants from 59 kindreds for EGFR T790M based on previous genotyping, demonstrating a Mendelian inheritance pattern with variable lung cancer penetrance. Fifty-five percent of the 91 confirmed or obligate carriers of a germline EGFR PV from 39 kindreds were affected with lung cancer; 52% were diagnosed by age 60. Overall, 95% of carriers with somatic testing of lung cancer had an EGFR driver commutation. Fifteen of the 36 germline carriers without a cancer diagnosis had CT imaging, and nine had lung nodules, including an individual age 28 who had more than 10 nodules.
