Germline EGFR T790M mutation and lung cancer risk | Science

A study published in Science characterizes the germline EGFR T790M mutation as a heritable risk factor for lung cancer, particularly in familial and non-smoking-related cases. While T790M is well known as an acquired resistance mutation to first-generation EGFR tyrosine kinase inhibitors, its presence in the germline establishes a distinct inherited cancer predisposition pathway independent of tobacco exposure. The findings refine understanding of genetic susceptibility beyond smoking-behavior loci identified through genome-wide association studies and have implications for surveillance and targeted prevention in carrier families.