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第六届欧洲联盟“关爱罕见代谢性疾病”(CCMMRD)会议报告,2022 年 11 月 16 日,法国巴黎。

Report of the sixth meeting of the European Consortium 'Care for CMMRD' (CCMMRD), Paris, France, November 16th 2022.

机构信息

Department of Pediatric and Adolescent Oncology, Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, France.

Molecular Predictors and New Targets in Oncology, INSERM U981, Gustave Roussy, Université Paris-Saclay, 114 Rue Edouard Vaillant, 94805, Villejuif, France.

出版信息

Fam Cancer. 2024 Nov;23(4):447-457. doi: 10.1007/s10689-024-00403-1. Epub 2024 Jul 20.

Abstract

Biallelic germline pathogenic variants in one of the four mismatch repair genes (MSH2, MSH6, MLH1 and PMS2) cause a very rare, highly penetrant, childhood-onset cancer syndrome, called constitutional mismatch repair deficiency (CMMRD). The European consortium "Care for CMMRD" (C4CMMRD) was founded in Paris in 2013 to facilitate international collaboration and improve our knowledge of this rare cancer predisposition syndrome. Following initial publications on diagnostic criteria and surveillance guidelines for CMMRD, several partners collaborating within the C4CMMRD consortium have worked on and published numerous CMMRD-related clinical and biological projects. Since its formation, the C4CMMRD consortium held meetings every 1-2 years (except in 2020 and 2021 due to the Covid 19 pandemic). The sixth C4CMMRD meeting was held in Paris in November 2022, and brought together 42 participants from nine countries involved in various fields of CMMRD healthcare. The aim was to update members on the latest results and developments from ongoing research, and to discuss and initiate new study proposals. As previously done for the fifth meeting of the C4CMMRD group, this report summarizes data presented at this meeting.

摘要

一个错配修复基因(MSH2、MSH6、MLH1 和 PMS2)中的双等位基因种系致病性变异导致一种非常罕见的、高外显率、儿童期发病的癌症综合征,称为错配修复缺陷综合征(CMMRD)。欧洲“关爱 CMMRD”联盟(C4CMMRD)于 2013 年在巴黎成立,旨在促进国际合作,提高我们对这种罕见的癌症易感性综合征的认识。在最初发表了 CMMRD 的诊断标准和监测指南后,C4CMMRD 联盟内的几个合作伙伴合作开展了许多与 CMMRD 相关的临床和生物学项目,并已发表。自成立以来,C4CMMRD 联盟每 1-2 年举行一次会议(由于 2020 年和 2021 年的新冠疫情,除了这两年外)。第六届 C4CMMRD 会议于 2022 年 11 月在巴黎举行,来自九个国家的 42 名参与者参加了涉及 CMMRD 医疗保健各个领域的会议。会议旨在向成员介绍正在进行的研究的最新结果和进展,并讨论和启动新的研究提案。与之前的 C4CMMRD 小组第五次会议一样,本报告总结了会议上提出的数据。

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