|
Torre-Muir syndrome
|
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 |
|
Torre-Muir syndrome
|
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 |
|
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 |
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 |
|
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 |
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 |
|
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 |
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 |
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 |
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 |
|
Torre-Muir syndrome
|
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 |
|
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 |
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 |
|
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 |
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 |
|
Torre-Muir syndrome
|
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 |
|
Torre-Muir syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis showed a germline mutation in the MSH2 gene confirming the diagnosis of Muir-Torre syndrome.
|
17034469 |
2006 |
|
Torre-Muir syndrome
|
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 |
|
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 |
GermlineCausalMutation
|
disease |
ORPHANET |
Spectrum of genetic alterations in Muir-Torre syndrome is the same as in HNPCC.
|
14994245 |
2004 |
|
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 |
MSH2 also accounts for most cases of Muir-Torre syndrome, which is characterized by the presence of sebaceous skin tumors.
|
14518071 |
2003 |
|
Torre-Muir syndrome
|
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 |
|
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 |
|
Torre-Muir syndrome
|
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 |