文章：

多原发性癌症相关易感基因

Susceptibility Genes Associated with Multiple Primary Cancers

原文发布日期：10 December 2023

DOI: 10.3390/cancers15245788

类型: Article

开放获取: 是

英文摘要：

With advancements in treatment and screening techniques, we have been witnessing an era where more cancer survivors harbor multiple primary cancers (MPCs), affecting approximately one in six patients. Identifying MPCs is crucial for tumor staging and subsequent treatment choices. However, the current clinicopathological criteria for clinical application are limited and insufficient, making it challenging to differentiate them from recurrences or metastases. The emergence of next-generation sequencing (NGS) technology has provided a genetic perspective for defining multiple primary cancers. Researchers have found that, when considering multiple tumor pairs, it is crucial not only to examine well-known essential mutations like MLH1/MSH2, EGFR, PTEN, BRCA1/2, CHEK2, and TP53 mutations but also to explore certain pleiotropic loci. Moreover, specific deleterious mutations may serve as regulatory factors in second cancer development following treatment. This review aims to discuss these susceptibility genes and provide an explanation of their functions based on the signaling pathway background. Additionally, the association network between genetic signatures and different tumor pairs will be summarized.

摘要翻译： 

随着治疗与筛查技术的进步，我们正步入一个癌症幸存者中多原发癌（MPCs）患者比例显著增加的时代，约六分之一的患者受此影响。准确识别多原发癌对肿瘤分期及后续治疗方案选择至关重要。然而，当前临床应用的病理学标准存在局限性与不足，难以有效区分多原发癌与复发或转移病灶。新一代测序（NGS）技术的出现为多原发癌的遗传学界定提供了新视角。研究发现，在分析多原发肿瘤对时，不仅需要关注MLH1/MSH2、EGFR、PTEN、BRCA1/2、CHEK2、TP53等已知关键突变，还需深入探究特定多效性基因位点。此外，某些特异性有害突变可能在治疗后继发癌症的发展过程中发挥调控作用。本文旨在系统探讨这些易感基因，并基于信号通路背景阐释其功能机制，同时将总结遗传特征与不同肿瘤对之间的关联网络。

原文链接：

Susceptibility Genes Associated with Multiple Primary Cancers