Torre-Muir syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Both Lynch Syndrome and Muir-Torre Syndrome have been recognized due to germline mutations in mismatch repair genes MLH1, MSH2 and MSH6.
|
26143115 |
2016 |
Torre-Muir syndrome
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Screening for germline mismatch repair mutations following diagnosis of sebaceous neoplasm.
|
25006859 |
2014 |
Torre-Muir syndrome
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Synchronous gastric and sebaceous cancers, a rare manifestation of MLH1-related Muir-Torre syndrome.
|
25197397 |
2014 |
Torre-Muir syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Synchronous gastric and sebaceous cancers, a rare manifestation of MLH1-related Muir-Torre syndrome.
|
25197397 |
2014 |
Torre-Muir syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
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 |
Torre-Muir syndrome
|
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 |
Torre-Muir syndrome
|
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 |
Torre-Muir syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis.
|
23403630 |
2013 |
Torre-Muir syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.
|
22949387 |
2013 |
Torre-Muir syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Functional characterization of MLH1 missense variants identified in Lynch syndrome patients.
|
22753075 |
2012 |
Torre-Muir syndrome
|
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 |
Torre-Muir syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies.
|
21404117 |
2011 |
Torre-Muir syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.
|
21120944 |
2011 |
Torre-Muir syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair.
|
20533529 |
2010 |
Torre-Muir syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Muir-Torre syndrome is usually inherited in an autosomal dominant fashion and associated with mutations in the mismatch repair genes, predominantly in MLH1 and MSH2 genes.
|
19998059 |
2010 |
Torre-Muir syndrome
|
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 |
Torre-Muir syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Four (44%) of nine families with MLH1 mutations had a member with Muir-Torre syndrome compared with 10 (42%) of 24 families with MSH2 mutations (P = .302).
|
18270343 |
2008 |
Torre-Muir syndrome
|
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 |
Torre-Muir syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes.
|
17594722 |
2007 |
Torre-Muir syndrome
|
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 |
Torre-Muir syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.
|
17510385 |
2007 |
Torre-Muir syndrome
|
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 |
Torre-Muir syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1.
|
16083711 |
2005 |
Torre-Muir syndrome
|
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 |
Torre-Muir syndrome
|
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 |