Germline mutations in young non-smoking women with lung adenocarcinoma.

摘要: Abstract Objectives Although the primary cause of lung cancer is smoking, a considerable proportion all cancers occur in never smokers. Gender influences risk and characteristics women are overrepresented among smokers with disease. Young age at onset lack established environmental factors suggest genetic predisposition. In this study, we used population-based sampling young patients to discover candidate predisposition variants for adenocarcinoma never-smoking women. Materials methods We employed archival normal tissue material from 21 never-smoker who had been diagnosed before 45, exome sequenced their germline DNA. Results conclusion Potentially pathogenic were found eight Cancer Gene Census genes: BRCA1, BRCA2, ERCC4, EXT1, HNF1 A, PTCH1, SMARCB1 TP53. The TP53, BRCA2 likely have contributed early respective (3/21 or 14%). This supports notion that can be component certain syndromes. Fifteen genes displayed potentially mutations least two patients: ABCC10, ATP7B, CACNA1S, CFTR, CLIP4, COL6A1, COL6A6, GCN1, GJB6, RYR1, SCN7A, SEC24A, SP100, TTN USH2A. Four showed mutation three CLIP4 rest genes. Some these may explain subset female adenocarcinoma.