种系突变
遗传倾向
生殖系
医学
肺癌
基因检测
体细胞
癌症
疾病
生物信息学
基因
生物
遗传学
突变
肿瘤科
内科学
作者
Souraya Rammal,Hampig Raphaël Kourié,Nadine Jalkh,Cybel Mehawej,Éliane Chouery,Elissar Moujaess,Georges Dabar
出处
期刊:Pharmacogenomics
[Future Medicine]
日期:2021-08-01
卷期号:22 (12): 791-803
被引量:1
标识
DOI:10.2217/pgs-2020-0150
摘要
Among all cancer types, pulmonary cancer has the highest mortality rate. Tobacco consumption remains the major risk factor for the development of lung cancer. However, many studies revealed a correlation between inherited genetic variants and predisposition to lung cancer, especially in nonsmokers. To date, genetic testing for the detection of germline mutations is not yet recommended in patients with lung cancer and testing is focused on somatic alterations given their implication in the treatment choice. Understanding the impact of genetic predisposition on the occurrence of lung cancer is essential to enable the introduction of accurate guidelines and recommendations that might reduce mortality. In this review paper, we describe familial lung cancer, and expose germline mutations that are linked to this type of cancer. We also report pathogenic genetic variants linked to syndromes associated with lung cancer.
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