Inherited rare epidermal growth factor receptor mutation and somatic mutations in patients with non-small cell lung cancer: a case report

A mother and son, both never-smokers of Caucasian ethnicity, were diagnosed with advanced metastatic lung adenocarcinoma. In one patient, tumor molecular analysis by next generation sequencing (NGS) identified two EGFR mutations: the activating mutation c.2573T>G, p.(Leu858Arg) in exon 21 of the EGFR gene, and the somatic non-pathogenic mutation c.2612C>A, p.(Ala871Glu) in exon 21 of the EGFR gene. The second patient also harbored the same two EGFR mutations. The patient underwent genetic testing which revealed the germline origin of the p.(Ala871Glu) mutation. Whether the presence of this mutations was associated with increased predisposition to cancer has yet to be determined. Our case report highlights the need for further exploration of the role of germline mutations, including the p.(Ala871Glu) mutation, in tumorigenesis and its implications for treatment response and inheritance patterns.