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
{"title":"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。","authors":"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","doi":"10.1007/s10689-024-00403-1","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":" ","pages":"447-457"},"PeriodicalIF":1.8000,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11512820/pdf/","citationCount":"0","resultStr":"{\"title\":\"Report of the sixth meeting of the European Consortium 'Care for CMMRD' (C<sub>4</sub>CMMRD), Paris, France, November 16th 2022.\",\"authors\":\"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\",\"doi\":\"10.1007/s10689-024-00403-1\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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. 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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.
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.