种系遗传变异，包括单核苷酸变异（SNV）和拷贝数变异（CNV），解释了患者间的异质性。在过去的几十年里，全基因组关联研究（GWAS）在白种人和中国人群中发现了多种与肺癌相关的 SNV。这些变体要么位于编码区并改变癌症相关蛋白的结构和功能，要么位于非编码区并改变癌症相关蛋白的表达水平。这些变体不仅可用于癌症风险评估和预防，还可用于新疗法的开发。在这篇综述中，我们讨论了迄今为止发现的与肺癌相关的 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中的潜在用途。© 2024 作者。

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.© 2024 The Author(s).