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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
2008-1-25
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pubmed:abstractText |
The subtype of Muir-Torre syndrome, allelic to hereditary nonpolyposis colorectal cancer is typically associated with germline mutations in the mismatch repair proteins MSH-2 and/or MLH-1. More recently, mutation in an additional mismatch repair protein MSH-6 has been documented in a patient with Muir-Torre syndrome. Given this, the aim of the present study was to ascertain the frequency of the same in unselected sebaceous gland neoplasms. Overall, we found that 59% of sebaceous neoplasms exhibited a mutation in at least one mismatch repair protein gene -- a prevalence rate similar to that reported previously by others. Of interest, we found MSH-6 to be the mismatch repair protein most commonly lost 17/41 (41%), followed by MSH-2 14/41 (34%) and MLH-18/41 (20%) and the positive predictive value of each were as follows: MLH-1 88%, MSH-6 67% and MSH-2 55%. The frequency of a MSH-6 germline mutation in our cohort indicates that it is not a rare finding. 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.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/Adaptor Proteins, Signal Transducing,
http://linkedlifedata.com/resource/pubmed/chemical/DNA-Binding Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/G-T mismatch-binding protein,
http://linkedlifedata.com/resource/pubmed/chemical/MLH1 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/MSH2 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/MutS Homolog 2 Protein,
http://linkedlifedata.com/resource/pubmed/chemical/Nuclear Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Tumor Markers, Biological
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pubmed:status |
MEDLINE
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pubmed:month |
Feb
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pubmed:issn |
0893-3952
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
21
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
159-64
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:18065960-Adaptor Proteins, Signal Transducing,
pubmed-meshheading:18065960-Adenoma,
pubmed-meshheading:18065960-Adult,
pubmed-meshheading:18065960-Aged,
pubmed-meshheading:18065960-Aged, 80 and over,
pubmed-meshheading:18065960-Base Pair Mismatch,
pubmed-meshheading:18065960-DNA Mismatch Repair,
pubmed-meshheading:18065960-DNA-Binding Proteins,
pubmed-meshheading:18065960-Female,
pubmed-meshheading:18065960-Genetic Testing,
pubmed-meshheading:18065960-Germ-Line Mutation,
pubmed-meshheading:18065960-Humans,
pubmed-meshheading:18065960-Immunohistochemistry,
pubmed-meshheading:18065960-Male,
pubmed-meshheading:18065960-Microsatellite Repeats,
pubmed-meshheading:18065960-Middle Aged,
pubmed-meshheading:18065960-MutS Homolog 2 Protein,
pubmed-meshheading:18065960-Neoplastic Syndromes, Hereditary,
pubmed-meshheading:18065960-Nuclear Proteins,
pubmed-meshheading:18065960-Sebaceous Gland Neoplasms,
pubmed-meshheading:18065960-Syndrome,
pubmed-meshheading:18065960-Tumor Markers, Biological
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pubmed:year |
2008
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pubmed:articleTitle |
MSH-6: extending the reliability of immunohistochemistry as a screening tool in Muir-Torre syndrome.
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pubmed:affiliation |
Department of Pathology, UMass Medical School, Worcester, MA, USA.
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pubmed:publicationType |
Journal Article
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