Germline mutations in young non-smoking women with lung adenocarcinoma

Lung Cancer : Journal of the International Association for the Study of Lung Cancer
Iikki DonnerLauri A Aaltonen

Abstract

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

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Citations

May 30, 2020·Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology·Melissa RotunnoElizabeth M Gillanders
Feb 13, 2021·Frontiers in Molecular Biosciences·Yu FanQinglian Wen
Jul 24, 2021·Journal of Clinical Laboratory Analysis·Lihuan XuBaosong Xie
Aug 20, 2021·Pharmacogenomics·Souraya RammalGeorges Dabar
Oct 1, 2021·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Siddhartha DevarakondaRamaswamy Govindan

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