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Germline mutations in young non-smoking women with lung adenocarcinoma

Lung Cancer Jun 07, 2018

Donner I, et al. - Researchers used population-based sampling of the youngest never-smoker female patients to find out which variants predisposed these candidates for lung adenocarcinoma. BRCA1, BRCA2, ERCC4, EXT1, HNF1A, PTCH1, SMARCB1 and TP53 were the eight Cancer Gene Census germline genes that were found to have potentially pathogenic variants. Likely contribution of the variants in TP53, BRCA1, and BRCA2 to the early onset lung cancer was shown in the respective patients (3/21 or 14%), suggesting that lung adenocarcinoma can be a component of certain cancer predisposition syndromes. At least two patients carried 15 genes that displayed potentially pathogenic mutations. A subset of female lung adenocarcinoma may be explained by some of these candidate genes.

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