Lynch Syndrome: From Screening to Diagnosis to Treatment in the Era of Modern Molecular Oncology.

IF 7.7 2区 生物学 Q1 GENETICS & HEREDITY Annual review of genomics and human genetics Pub Date : 2019-08-31 Epub Date: 2019-03-08 DOI:10.1146/annurev-genom-083118-015406
Stacey A Cohen, Colin C Pritchard, Gail P Jarvik
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引用次数: 45

Abstract

Lynch syndrome is a hereditary cancer predisposition syndrome caused by germline alterations in the mismatch repair genes and is the most common etiology of hereditary colorectal cancer. While Lynch syndrome was initially defined by the clinical Amsterdam criteria, these criteria lack the sensitivity needed for clinical utility. This review covers the evolution of screening for Lynch syndrome from the use of tumor microsatellite instability and/or somatic alterations in mismatch repair protein expression by immunohistochemistry to the newest methods using next-generation sequencing. Additionally, it discusses the clinical implications of the diagnosis of Lynch syndrome as it affects cancer therapeutics and the role of screening in noncolorectal Lynch-associated cancers. As molecular oncology continues to evolve, it is crucial to remain current on the increasing complexity of Lynch syndrome diagnostics and treatment options.

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Lynch综合征:现代分子肿瘤学时代从筛查到诊断到治疗。
Lynch综合征是一种由错配修复基因的种系改变引起的遗传性癌症易感性综合征,是遗传性结直肠癌最常见的病因。虽然Lynch综合征最初是由临床阿姆斯特丹标准定义的,但这些标准缺乏临床应用所需的敏感性。本文综述了Lynch综合征筛查的发展,从免疫组织化学使用肿瘤微卫星不稳定性和/或错配修复蛋白表达的体细胞改变到使用新一代测序的最新方法。此外,它还讨论了Lynch综合征诊断的临床意义,因为它影响癌症治疗和筛查在非结直肠Lynch相关癌症中的作用。随着分子肿瘤学的不断发展,保持对Lynch综合征诊断和治疗选择日益复杂的现状至关重要。
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来源期刊
CiteScore
14.90
自引率
1.10%
发文量
29
期刊介绍: Since its inception in 2000, the Annual Review of Genomics and Human Genetics has been dedicated to showcasing significant developments in genomics as they pertain to human genetics and the human genome. The journal emphasizes genomic technology, genome structure and function, genetic modification, human variation and population genetics, human evolution, and various aspects of human genetic diseases, including individualized medicine.
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