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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…
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Keywords:
les tumeurs;
cmmrd ficience;
cmmrd;
syndrome cmmrd ... See more keywords
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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…
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Keywords:
cmmrd;
deficiency;
mismatch repair;
genotype phenotype ... See more keywords
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Published in 2020 at "Neuro-Oncology"
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…
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Keywords:
msh2 msh6;
msh6;
mismatch repair;
cmmrd ... See more keywords
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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…
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Keywords:
cmmrd;
sensitivity;
microsatellite instability;
mismatch repair ... See more keywords