Syndrome CMMRD (déficience constitutionnelle des gènes MMR) : bases génétiques et aspects cliniques
Sign Up to like & getrecommendations! Published in 2019 at "Bulletin du Cancer"
DOI: 10.1016/j.bulcan.2018.10.008
Abstract: Resume La presence d’une mutation constitutionnelle mono-allelique de l’un des quatre principaux genes MMR est responsable du syndrome de Lynch qui predispose au developpement a l’âge adulte de tumeurs principalement colorectales et endometriales caracterisees par une… read more here.
Keywords: les tumeurs; cmmrd ficience; cmmrd; syndrome cmmrd ... See more keywords
Constitutional microsatellite instability, genotype, and phenotype correlations in Constitutional Mismatch Repair Deficiency.
Sign Up to like & getrecommendations! Published in 2022 at "Gastroenterology"
DOI: 10.1053/j.gastro.2022.12.017
Abstract: BACKGROUND & AIMS Constitutional mismatch repair deficiency (CMMRD) is a rare recessive childhood cancer predisposition syndrome caused by germline mismatch repair (MMR) variants. Constitutional microsatellite instability (cMSI) is a CMMRD diagnostic hallmark and may associate… read more here.
Keywords: cmmrd; deficiency; mismatch repair; genotype phenotype ... See more keywords
Biallelic Mismatch Repair Deficiency in Children and Adolescents: A Review of Published and Unpublished Data from India—Need for an Indian Consortium
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DOI: 10.1055/s-0044-1790202
Abstract: Abstract Introduction Biallelic mismatch repair deficiency or constitutional mismatch repair deficiency (CMMRD) is a rare and aggressive pediatric cancer predisposition syndrome that occurs as a result of homozygous (biallelic) pathogenic variants in mismatch repair genes.… read more here.
Keywords: cmmrd; mismatch repair; repair deficiency;
A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency.
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DOI: 10.1093/clinchem/hvae027
Abstract: BACKGROUND Constitutional mismatch repair deficiency (CMMRD) is a rare and extraordinarily penetrant childhood-onset cancer predisposition syndrome. Genetic diagnosis is often hampered by the identification of mismatch repair (MMR) variants of unknown significance and difficulties in… read more here.
Keywords: cmmrd; msi; mismatch repair; instability ... See more keywords
HGG-44. DEFECTS OF MISMATCH REPAIR PROTEINS IN PEDIATRIC HIGH GRADE GLIOMAS
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DOI: 10.1093/neuonc/noaa222.325
Abstract: Abstract Hetero- and homozygous germline mutations of the mismatch repair genes MLH1, PMS2, MSH2 and MSH6 cause Lynch and constitutional mismatch repair (CMMRD) cancer predisposition syndrome, respectively. Affected CMMRD individuals are at risk to develop… read more here.
Keywords: msh2 msh6; msh6; mismatch repair; cmmrd ... See more keywords
High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2019-106272
Abstract: Introduction Lynch syndrome (LS) and constitutional mismatch repair deficiency (CMMRD) are hereditary cancer syndromes associated with mismatch repair (MMR) deficiency. Tumours show microsatellite instability (MSI), also reported at low levels in non-neoplastic tissues. Our aim… read more here.
Keywords: cmmrd; sensitivity; microsatellite instability; mismatch repair ... See more keywords