Disease #00516

Official abbreviation MMRCS
Name cancer syndrome, mismatch repair (MMRCS)
OMIM ID 276300
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 7
Phenotype entries for this disease 2
Associated with 4 genes MLH1, MSH2, MSH6, PMS2
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Individuals

7 entries on 1 page. Showing entries 1 - 7.
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00065192 - - - M yes - - - 0 - - MMRCS brain tumour PMS2 - 0 1 Julia Vogt
00201829 - PubMed: Freha 2018, PubMed: Levi 2015 - F - Israel - - 0 - - CRC, MMRCS - - PMS2 1 1 InSiGHT - John-Paul Plazzer
00201870 - PubMed: Nguyen 2016 CMMRD syndrome in a family with a bi-allelic MLH1 mutation; maternal uncle developed a CRC, which had a standard MSI-H phenotype and a loss of MLH1 protein expression (family pedigree in Fig.2a). Moreover, we discovered at this time that a cousin deceased at 8 years from an aggressive brain tumor and that several family members had a history of CRC at a young age. F - - - - 0 - - MMRCS - - MLH1 1 1 InSiGHT - John-Paul Plazzer
00202332 - PubMed: Suerink et al 2017 CMMRD diagnosis. Child of consanguineous parents; 4‚Äźgeneration family history negative for malignancies F - Netherlands - - 0 - - MMRCS - - PMS2 1 1 InSiGHT - John-Paul Plazzer
00204124 - PubMed: Bush 2018 sisters both diagnosed with CMMRD syndrome in their early 20s F - - - - 0 pedigree - MMRCS - - MSH6 2 1 InSiGHT - John-Paul Plazzer
00204176 - PubMed: Tesch 2018 - - - - - - 0 - - MMRCS - - MSH6 2 1 InSiGHT - John-Paul Plazzer
00204177 - PubMed: Tesch 2018 - - - - - - 0 - - MMRCS - - PMS2 1 1 InSiGHT - John-Paul Plazzer
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