TY - JOUR
T1 - Report of the sixth meeting of the European Consortium ‘Care for CMMRD’ (C4CMMRD), Paris, France, November 16th 2022
AU - Guerrini-Rousseau, Léa
AU - Gallon, Richard
AU - Pineda, Marta
AU - Brugières, Laurence
AU - Baert-Desurmont, Stéphanie
AU - Corsini, Carole
AU - Dangouloff-Ros, Volodia
AU - Gorris, Mark A.J.
AU - Haberler, Christine
AU - Hoarau, Pauline
AU - Jongmans, Marjolijn C.
AU - Kloor, Matthias
AU - Loeffen, Jan
AU - Rigaud, Charlotte
AU - Robbe, Julie
AU - Vibert, Roseline
AU - Weijers, Dilys
AU - Wimmer, Katharina
AU - Colas, Chrystelle
N1 - Publisher Copyright:
© The Author(s) 2024.
PY - 2024/11
Y1 - 2024/11
N2 - 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.
AB - 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.
KW - CCMMRD
KW - CMMRD
KW - European CCMMRD consortium
KW - Meeting report
UR - http://www.scopus.com/inward/record.url?scp=85199163025&partnerID=8YFLogxK
U2 - 10.1007/s10689-024-00403-1
DO - 10.1007/s10689-024-00403-1
M3 - Review article
C2 - 39031223
AN - SCOPUS:85199163025
SN - 1389-9600
VL - 23
SP - 447
EP - 457
JO - Familial cancer
JF - Familial cancer
IS - 4
ER -