显性遗传微小卫星不稳定癌症-林奇综合征-EHTG,PLSD位置说明。

IF 2 4区 医学 Q3 ONCOLOGY
Pal Møller, Toni T Seppälä, Aysel Ahadova, Emma J Crosbie, Elke Holinski-Feder, Rodney Scott, Saskia Haupt, Gabriela Möslein, Ingrid Winship, Sanne W Bajwa-Ten Broeke, Kelly E Kohut, Neil Ryan, Peter Bauerfeind, Laura E Thomas, D Gareth Evans, Stefan Aretz, Rolf H Sijmons, Elizabeth Half, Karl Heinimann, Karoline Horisberger, Kevin Monahan, Christoph Engel, Giulia Martina Cavestro, Robert Fruscio, Naim Abu-Freha, Levi Zohar, Luigi Laghi, Lucio Bertario, Bernardo Bonanni, Maria Grazia Tibiletti, Leonardo S Lino-Silva, Carlos Vaccaro, Adriana Della Valle, Benedito Mauro Rossi, Leandro Apolinário da Silva, Ivana Lucia de Oliveira Nascimento, Norma Teresa Rossi, Tadeusz Dębniak, Jukka-Pekka Mecklin, Inge Bernstein, Annika Lindblom, Lone Sunde, Sigve Nakken, Vincent Heuveline, John Burn, Eivind Hovig, Matthias Kloor, Julian R Sampson, Mev Dominguez-Valentin
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引用次数: 0

摘要

对由四个错配修复(MMR)基因之一MSH2、MLH1、MSH6和PMS2的致病性变体引起的显性遗传微卫星不稳定(MSI)癌症的识别改变了我们对致癌作用的理解。这些MMR基因的遗传性功能缺失变异导致四种显性遗传癌症综合征,具有不同的外显率和表达率:四种林奇综合征。没有人具有“平均性别”或“平均林奇综合征基因”的致病性变体,不按基因和性别分层的结果对任何人都无效。癌发生可能是从细胞分裂增加到癌症局部转移的线性过程。此外,在林奇综合征(LS)中,我们现在认识到两个随机过程之间的动态平衡:MSI产生的异常细胞和宿主的适应性免疫系统清除它们的能力。后者可以解释为什么结肠镜检查监测不能降低LS中结直肠癌癌症的发病率,但可以改善预后。LS中大多数早发结肠癌、子宫内膜癌和卵巢癌现已治愈,大多数与癌症相关的死亡发生在其他器官的后续癌症之后。阿司匹林降低了LS中结直肠癌和其他癌症的发病率。免疫治疗增加了宿主免疫系统摧毁MSI癌症的能力。结肠镜监测、阿司匹林预防和免疫疗法是个性化精准医学预防和治疗遗传性MSI癌症的重要进步。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Dominantly inherited micro-satellite instable cancer - the four Lynch syndromes - an EHTG, PLSD position statement.

Dominantly inherited micro-satellite instable cancer - the four Lynch syndromes - an EHTG, PLSD position statement.

Dominantly inherited micro-satellite instable cancer - the four Lynch syndromes - an EHTG, PLSD position statement.

Dominantly inherited micro-satellite instable cancer - the four Lynch syndromes - an EHTG, PLSD position statement.

The recognition of dominantly inherited micro-satellite instable (MSI) cancers caused by pathogenic variants in one of the four mismatch repair (MMR) genes MSH2, MLH1, MSH6 and PMS2 has modified our understanding of carcinogenesis. Inherited loss of function variants in each of these MMR genes cause four dominantly inherited cancer syndromes with different penetrance and expressivities: the four Lynch syndromes. No person has an "average sex "or a pathogenic variant in an "average Lynch syndrome gene" and results that are not stratified by gene and sex will be valid for no one. Carcinogenesis may be a linear process from increased cellular division to localized cancer to metastasis. In addition, in the Lynch syndromes (LS) we now recognize a dynamic balance between two stochastic processes: MSI producing abnormal cells, and the host's adaptive immune system's ability to remove them. The latter may explain why colonoscopy surveillance does not reduce the incidence of colorectal cancer in LS, while it may improve the prognosis. Most early onset colon, endometrial and ovarian cancers in LS are now cured and most cancer related deaths are after subsequent cancers in other organs. Aspirin reduces the incidence of colorectal and other cancers in LS. Immunotherapy increases the host immune system's capability to destroy MSI cancers. Colonoscopy surveillance, aspirin prevention and immunotherapy represent major steps forward in personalized precision medicine to prevent and cure inherited MSI cancer.

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来源期刊
CiteScore
3.10
自引率
5.90%
发文量
38
审稿时长
>12 weeks
期刊介绍: Hereditary Cancer in Clinical Practice is an open access journal that publishes articles of interest for the cancer genetics community and serves as a discussion forum for the development appropriate healthcare strategies. Cancer genetics encompasses a wide variety of disciplines and knowledge in the field is rapidly growing, especially as the amount of information linking genetic differences to inherited cancer predispositions continues expanding. With the increased knowledge of genetic variability and how this relates to cancer risk there is a growing demand not only to disseminate this information into clinical practice but also to enable competent debate concerning how such information is managed and what it implies for patient care. Topics covered by the journal include but are not limited to: Original research articles on any aspect of inherited predispositions to cancer. Reviews of inherited cancer predispositions. Application of molecular and cytogenetic analysis to clinical decision making. Clinical aspects of the management of hereditary cancers. Genetic counselling issues associated with cancer genetics. The role of registries in improving health care of patients with an inherited predisposition to cancer.
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