Tian Xiaoling, Liu Zhe
Zhejiang Key Laboratory of Medical Epigenetics, Department of Cell Biology, School of Basic Medical Sciences, Hangzhou Normal University, Hangzhou, Zhejiang 311121, China.
Chin Med J Pulm Crit Care Med. 2024 Jun 14;2(2):88-94. doi: 10.1016/j.pccm.2024.04.004. eCollection 2024 Jun.
Germline genetic variants, including single-nucleotide variants (SNVs) and copy number variants (CNVs), account for interpatient heterogeneity. In the past several decades, genome-wide association studies (GWAS) have identified multiple lung cancer-associated SNVs in Caucasian and Chinese populations. These variants either reside within coding regions and change the structure and function of cancer-related proteins or reside within non-coding regions and alter the expression level of cancer-related proteins. The variants can be used not only for cancer risk assessment and prevention but also for the development of new therapies. In this review, we discuss the lung cancer-associated SNVs identified to date, their contributions to lung tumorigenesis and prognosis, and their potential use in predicting prognosis and implementing therapeutic strategies.
种系基因变异，包括单核苷酸变异（SNV）和拷贝数变异（CNV），是患者间异质性的原因。在过去几十年中，全基因组关联研究（GWAS）已在白种人和中国人群中鉴定出多个与肺癌相关的SNV。这些变异要么位于编码区域内，改变癌症相关蛋白的结构和功能，要么位于非编码区域内，改变癌症相关蛋白的表达水平。这些变异不仅可用于癌症风险评估和预防，还可用于开发新疗法。在本综述中，我们讨论了迄今为止已鉴定出的与肺癌相关的SNV、它们对肺肿瘤发生和预后的贡献，以及它们在预测预后和实施治疗策略方面的潜在用途。
