Lung cancer is the leading cause of cancer-related death and familial lung cancer is a potential contributing factor. Epidermal growth factor receptor (EGFR) mutations are important events in carcinogenesis. The present study summarized the common germline mutations of EGFR, including T790M, V843I, R776H and P848L, and provided detailed information regarding each mutation site and potential treatment strategies. Individuals with germline mutations may develop lung cancer upon exposure to environmental stimuli such as smoking, air pollution or radiological contamination, or due to the occurrence of another somatic mutation. The present study recommends regular physical examinations as well as population-wide germline mutation screening for early detection and diagnosis of lung cancer.
Keywords: epidermal growth factor receptor; familial lung cancer; germline mutation; lung cancer.
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