欧洲 "CMMRD 护理 "联合会(C4CMMRD)第六次会议报告,法国巴黎,2022 年 11 月 16 日。

IF 1.8 4区 医学 Q3 GENETICS & HEREDITY
Familial Cancer Pub Date : 2024-11-01 Epub Date: 2024-07-20 DOI:10.1007/s10689-024-00403-1
Léa Guerrini-Rousseau, Richard Gallon, Marta Pineda, Laurence Brugières, Stéphanie Baert-Desurmont, Carole Corsini, Volodia Dangouloff-Ros, Mark A J Gorris, Christine Haberler, Pauline Hoarau, Marjolijn C Jongmans, Matthias Kloor, Jan Loeffen, Charlotte Rigaud, Julie Robbe, Roseline Vibert, Dilys Weijers, Katharina Wimmer, Chrystelle Colas
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引用次数: 0

摘要

四种错配修复基因(MSH2、MSH6、MLH1 和 PMS2)之一的双叶种系致病变异会导致一种非常罕见、高渗透性、儿童期发病的癌症综合征,称为体质性错配修复缺陷(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,增进我们对这一罕见癌症易感综合征的了解。继最初发表有关 CMMRD 诊断标准和监测指南的文章后,C4CMMRD 联盟内的多个合作伙伴已开展并发表了大量与 CMMRD 相关的临床和生物学项目。自成立以来,C4CMMRD 联盟每 1-2 年举行一次会议(2020 年和 2021 年因 Covid 19 大流行而除外)。第六届 C4CMMRD 会议于 2022 年 11 月在巴黎举行,来自 9 个国家的 42 名与会者参加了会议,他们都参与了 CMMRD 医疗保健的各个领域。会议的目的是向成员介绍正在进行的研究的最新成果和进展,并讨论和提出新的研究建议。与之前的 C4CMMRD 小组第五次会议一样,本报告总结了本次会议上提交的数据。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Report of the sixth meeting of the European Consortium 'Care for CMMRD' (C4CMMRD), Paris, France, November 16th 2022.

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.

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来源期刊
Familial Cancer
Familial Cancer 医学-遗传学
CiteScore
4.10
自引率
4.50%
发文量
36
审稿时长
6-12 weeks
期刊介绍: In recent years clinical cancer genetics has become increasingly important. Several events, in particular the developments in DNA-based technology, have contributed to this evolution. Clinical cancer genetics has now matured to a medical discipline which is truly multidisciplinary in which clinical and molecular geneticists work together with clinical and medical oncologists as well as with psycho-social workers. Due to the multidisciplinary nature of clinical cancer genetics most papers are currently being published in a wide variety of journals on epidemiology, oncology and genetics. Familial Cancer provides a forum bringing these topics together focusing on the interests and needs of the clinician. The journal mainly concentrates on clinical cancer genetics. Most major areas in the field shall be included, such as epidemiology of familial cancer, molecular analysis and diagnosis, clinical expression, treatment and prevention, counselling and the health economics of familial cancer.
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