MSH6, mutS homolog 6, 2956

N. diseases: 296; N. variants: 642
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder)
0.800 Biomarker disease CLINGEN Neurofibromatosis and early onset of cancers in hMLH1-deficient children. 9927034 1999
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder)
0.800 Biomarker disease CLINGEN Our findings support a role for MSH6 in Turcot syndrome and are consistent with an autosomal recessive mode of inheritance. 16000562 2005
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder)
0.800 GeneticVariation disease BEFREE Thirteen patients (15.7%) had tumor MMR deficiency due to a presumed germline mutation (9 MSH6, 3 MSH2, and 1 MLH1). 27327152 2016
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder)
0.800 Biomarker disease GENOMICS_ENGLAND Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. 24362816 2014
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder)
0.800 Biomarker disease GENOMICS_ENGLAND Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6. 16283678 2005
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder)
0.800 GeneticVariation disease BEFREE Metachronous Wilms Tumor, Glioblastoma, and T-cell Leukemia in an Child With Constitutional Mismatch Repair Deficiency syndrome due to Novel Mutation in MSH6 (c.2590G>T). 31815888 2019
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder)
0.800 Biomarker disease CLINGEN Compound heterozygosity for two MSH6 mutations in a patient with early onset colorectal cancer, vitiligo and systemic lupus erythematosus. 18409202 2008
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder)
0.800 GermlineCausalMutation disease ORPHANET Constitutional mismatch repair-deficiency syndrome. 20442441 2010
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder)
0.800 Biomarker disease CTD_human
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder)
0.800 GeneticVariation disease BEFREE Whole-exome capture and massively parallel sequencing combined with homozygosity mapping identified a homozygous novel mutation in the MSH6 gene that leads to constitutional mismatch repair deficiency syndrome and increased cancer risk. 22493294 2012
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder)
0.800 Biomarker disease CLINGEN Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation. 17557300 2007
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder)
0.800 Biomarker disease BEFREE Mutations in MSH6 have also been found but these do not always cause a clear cancer predisposition phenotype and MSH6-defective tumors often do not show the standard characteristics of MMR deficiency, such as microsatellite instability. 24040339 2013
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder)
0.800 GeneticVariation disease BEFREE We report on a case with constitutional mismatch repair deficiency caused by a novel MSH6 mutation leading to a T-cell lymphoma and colonic adenocarcinoma at six and 13 years of age, respectively. 20015892 2010
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder)
0.800 Biomarker disease GENOMICS_ENGLAND Our findings support a role for MSH6 in Turcot syndrome and are consistent with an autosomal recessive mode of inheritance. 16000562 2005
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder)
0.800 Biomarker disease CLINGEN A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple café-au-lait spots. 11809679 2002
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder)
0.800 AlteredExpression disease BEFREE Loss of MSH6 expression is the predominant cause of MMR deficiency in early-onset CRC. 20924129 2010
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder)
0.800 GeneticVariation disease BEFREE Tumor MMR-deficiency was observed for 22 cases [69 %; 95 % confidence interval (CI) 50-83 %], with the highest prevalence of MMR-deficiency in tumors from MSH2 mutation carriers (19/23, 83 %) compared with MLH1 and MSH6 carriers combined (3/9, 33 %; p = 0.01). 25117503 2014
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder)
0.800 Biomarker disease GENOMICS_ENGLAND ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder)
0.800 Biomarker disease BEFREE Our findings support a role for MSH6 in Turcot syndrome and are consistent with an autosomal recessive mode of inheritance. 16000562 2005
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder)
0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder)
0.800 CausalMutation disease CLINVAR
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder)
0.800 Biomarker disease CLINGEN Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6. 16283678 2005
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder)
0.800 Biomarker disease BEFREE Cumulative colorectal cancer incidence was estimated in a cohort of PMS2- and MSH6-associated families, ascertained by the CMMRD phenotype of the index, by using mutation probabilities based on kinship coefficients as analytical weights in a proportional hazard regression on the cause-specific hazards. 31204389 2019
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder)
0.800 GermlineCausalMutation disease ORPHANET Simple detection of germline microsatellite instability for diagnosis of constitutional mismatch repair cancer syndrome. 23483711 2013
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder)
0.800 Biomarker disease GENOMICS_ENGLAND