Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.800 GeneticVariation disease BEFREE Having a high probability for MSI, she was found to be heterozygous for a germline point mutation in MSH2 gene, where a pathologic variant, c.1165C > T (p.Arg389*), determined by sequencing confirmed Muir-Torre syndrome (MTS). 29933315 2019
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.800 GeneticVariation disease BEFREE The diagnosis of Muir-Torre syndrome was confirmed by molecular genetic investigation that revealed an identical germline mutation in MSH2 gene in several family members, some of whom had colorectal tumors. 26779764 2016
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
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
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.800 GeneticVariation disease BEFREE All 10 sporadic periocular sebaceous carcinomas maintained strong staining of the 4 mismatch repair genes, while tumor from the patient with Muir-Torre syndrome showed loss of staining for the mismatch repair genes MSH2 and MSH6. 24321472 2014
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.800 GermlineCausalMutation disease ORPHANET Screening for germline mismatch repair mutations following diagnosis of sebaceous neoplasm. 25006859 2014
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.800 GeneticVariation disease BEFREE In this study, we report a 74-year-old man with known Muir-Torre syndrome with confirmed MSH2 germline mutation, diagnosed with pleomorphic liposarcoma of the right buttock in a previous radiation field. 23299928 2013
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.800 GeneticVariation disease BEFREE Most examples of hereditary non-polyposis cancer syndrome (Lynch syndrome), including the Muir-Torre syndrome, are associated with microsatellite instability (MSI) and germline mutations in mismatch repair genes-most commonly MLH1 or MSH2. 23672746 2013
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.800 GeneticVariation disease BEFREE Muir-Torre syndrome (MTS) is an autosomal dominant genodermatosis caused by mutations in the DNA mismatch repair genes MLH1 and MSH2. 21550136 2011
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.800 GeneticVariation disease BEFREE Muir-Torre Syndrome (MTS) is a phenotypic variant of HNPCC traditionally associated with mutations in the mismatch repair genes MLH1 and MSH2. 18236172 2008
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.800 GeneticVariation disease LHGDN Families who carried the c.942+3A>T MSH2 gene mutation had a higher frequency of Muir-Torre syndrome than families who carried other mutations in the MSH2 gene (75% vs 25%; P = .026). 18270343 2008
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.800 GeneticVariation disease BEFREE Families who carried the c.942+3A>T MSH2 gene mutation had a higher frequency of Muir-Torre syndrome than families who carried other mutations in the MSH2 gene (75% vs 25%; P = .026). 18270343 2008
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.800 GeneticVariation disease BEFREE Evidence indicating microsatellite stability in three of 17 patients with a clinical history indicative of Muir-Torre syndrome and a mutation in only MSH-6 suggests that the phenotype of a germline MSH-6 mutation differs from that of MLH-1 and MSH-2 mutations and further supports the use of immunohistochemistry as a screening tool in patients with Muir-Torre syndrome with an extended panel that includes MSH-6. 18065960 2008
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.800 GeneticVariation disease BEFREE Haplotype analysis showed that the kindreds C and V+Va (both from northeastern Italy, both displaying clinical features of the Muir-Torre syndrome) shared a seven-locus haplotype, indicating that the MSH2 1-6 deletion is probably a founder mutation. 17250661 2007
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.800 GeneticVariation disease BEFREE Mutations reported to cause Muir-Torre syndrome (MTS) have previously been reported in the mismatch repair genes MLH1 and MSH2 and more recently, in MYH [1]. 17323113 2007
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.800 GeneticVariation disease LHGDN We report a case of Muir-Torre syndrome associated with intrahepatic cholangiocarcinoma, a location not previously described, and associated with a novel missense mutation of the MSH2 gene (c.2026T > C), predicted to disrupt the function of the gene. 17051350 2007
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.800 GeneticVariation disease BEFREE A case of Muir-Torre syndrome associated with mucinous hepatic cholangiocarcinoma and a novel germline mutation of the MSH2 gene. 17051350 2007
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.800 GeneticVariation disease BEFREE Genetic analysis showed a germline mutation in the MSH2 gene confirming the diagnosis of Muir-Torre syndrome. 17034469 2006
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.800 AlteredExpression disease BEFREE This patient presented with intriguing squamous lesions including keratoacanthoma-like squamous cell carcinoma that showed venous invasion and actinic keratosis, and associated loss of hMSH2 expression, in addition to the sebaceous neoplasms typical of Muir-Torre syndrome. 16456327 2006
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.800 GeneticVariation disease BEFREE Value of MLH1 and MSH2 mutations in the appearance of Muir-Torre syndrome phenotype in HNPCC patients presenting sebaceous gland tumors or keratoacanthomas. 16826164 2006
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.800 GermlineCausalMutation disease ORPHANET Spectrum of genetic alterations in Muir-Torre syndrome is the same as in HNPCC. 14994245 2004
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.800 GermlineCausalMutation disease ORPHANET A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome. 15235030 2004
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.800 Biomarker disease BEFREE MSH2 also accounts for most cases of Muir-Torre syndrome, which is characterized by the presence of sebaceous skin tumors. 14518071 2003
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.800 GeneticVariation disease BEFREE Loss of DNA mismatch repair proteins in skin tumors from patients with Muir-Torre syndrome and MSH2 or MLH1 germline mutations: establishment of immunohistochemical analysis as a screening test. 11859205 2002
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.800 Biomarker disease BEFREE Microsatellite instability and immunostaining for MSH-2 and MLH-1 in cutaneous and internal tumors from patients with the Muir-Torre syndrome. 12139636 2002
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.800 GeneticVariation disease BEFREE Thus, we could show in a sample of sebaceous tumors from patients with genetically proven Muir-Torre syndrome that loss of heterozygosity most probably is not the preferred mode of somatic inactivation of the second MSH2 allele. 11231323 2001