Molecular pathogenesis of hereditary lung cancer: a literature review

被引：3

作者：

Rammal, Souraya ^{[1
]}

Kourie, Hampig Raphael ^{[2
]}

Jalkh, Nadine ^{[3
]}

Mehawej, Cybel ^{[3
]}

Chouery, Eliane ^{[3
]}

Moujaess, Elissar ^{[2
]}

Dabar, Georges ^{[4
]}

机构：

[1] St Joseph Univ Beirut, Fac Med, Beirut, Lebanon

[2] St Joseph Univ Beirut, Dept Hematol Oncol, Fac Med, Beirut, Lebanon

[3] St Joseph Univ Beirut, Med Genet Unit, Fac Med, Beirut, Lebanon

[4] St Joseph Univ Beirut, Div Pulm Crit Care, Hotel Dieu France, Beirut, Lebanon

来源：

PHARMACOGENOMICS | 2021年 / 22卷 / 12期

关键词：

familial lung cancer; germline mutation; heredity; pulmonary cancer; GROWTH-FACTOR RECEPTOR; GENOME-WIDE ASSOCIATION; GERMLINE MUTATIONS; SUSCEPTIBILITY LOCI; T790M MUTATION; INCREASED RISK; EGFR MUTATION; V843I; ADENOCARCINOMA; VARIANTS;

D O I：

10.2217/pgs-2020-0150

中图分类号：

R9 [药学];

学科分类号：

1007 ;

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.

引用

页码：793 / 806

页数：14

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