Overview of the Genetic Aspects of Lynch Syndrome

IF 0.1 Q4 MEDICINE, GENERAL & INTERNAL
Silvia N. Rădulescu
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引用次数: 0

Abstract

"Lynch syndrome (LS) is one of the most common inherited cancer predisposition syndromes and the most important cause of hereditary colorectal and endometrial cancers. It is inherited in an autosomal dominant pattern, caused by a pathogenic germline variant in one of the mismatch repair (MMR) genes (MLH1, MSH2, MSH6, or PMS2), which encode proteins responsible for maintaining genome stability. A defective MMR system confers an elevated risk of developing certain types of cancer, at a younger age than in the general population and at a high rate of multiple primary neoplasia. Lynch syndrome is not just one disease, but a collection of different subtypes of underlying molecular aspects with specific clinical implications. A better understanding of these subgroup profiles could offer better care for each patient, leading to more personalized risk-reduction and surveillance strategies. Lynch syndrome is a frequent but yet underdiagnosed condition that needs multidisciplinary increased awareness for correct diagnosis and management. The aim of this review is to provide a summary of available literature data on the genetic aspects of Lynch syndrome together with geno-type-phenotype correlations and its clinical implications in the detection, genetic counseling, genetic testing, risk stratification, and management of this condition."
林奇综合征遗传学概述
"林奇综合征(Lynch syndrome,LS)是最常见的遗传性癌症易感综合征之一,也是遗传性结直肠癌和子宫内膜癌最重要的病因。它是常染色体显性遗传,由错配修复(MMR)基因(MLH1、MSH2、MSH6 或 PMS2)之一的致病性种系变异引起,这些基因编码的蛋白质负责维持基因组的稳定性。MMR 系统缺陷会导致罹患某些类型癌症的风险升高,而且罹患癌症的年龄比一般人要小,多发性原发性肿瘤的发病率也很高。林奇综合征并不只是一种疾病,而是具有特定临床影响的不同亚型的潜在分子方面的集合。更好地了解这些亚组特征可以为每位患者提供更好的治疗,从而制定更个性化的风险降低和监测策略。林奇综合征是一种常见病,但诊断率却很低,需要提高多学科的认识,以进行正确的诊断和管理。本综述旨在总结林奇综合征遗传方面的现有文献数据、基因型与表型的相关性及其对该疾病的检测、遗传咨询、基因检测、风险分层和管理的临床意义。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Romanian Journal of Military Medicine
Romanian Journal of Military Medicine MEDICINE, GENERAL & INTERNAL-
自引率
33.30%
发文量
2
审稿时长
12 weeks
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