Synchronous gastric and sebaceous cancers, a rare manifestation of MLH1-related Muir-Torre syndrome
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F14%3A10284389" target="_blank" >RIV/00216208:11110/14:10284389 - isvavai.cz</a>
Alternative codes found
RIV/68378041:_____/14:00431950 RIV/00216208:11120/14:43908878 RIV/00064165:_____/14:10284389
Result on the web
<a href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4152087/" target="_blank" >http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4152087/</a>
DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
Synchronous gastric and sebaceous cancers, a rare manifestation of MLH1-related Muir-Torre syndrome
Original language description
Muir-Torre syndrome (MTS), a rare variant of the hereditary non polyposis colorectal cancer syndrome, is an autosomal dominant genodermatosis characterised by coincidence of sebaceous gland neoplasms (sebaceous adenoma, epithelioma, or carcinoma) and atleast one internal malignancy. The underlying cause of MTS is a germline mutation in DNA mismatch repair genes MSH2, MLH1 and MSH6. We report the case of a 52-year-old caucasian woman with the development of metachronous colon cancer at the age of 38 years, uterine cancer at the age of 43 years, and unique occurrence of synchronous gastric and sebaceous carcinomas related to germline point mutation c. 2194A> T in the last exon of MLH1 gene, resulting in truncated protein in C-terminal region p. Lys732Xdue to premature stop codon. This mutation, not previously reported in MTS, disrupts the function of MutL complexes presumably by preventing the interaction with PMS1/PMS2 and impairing the endonuclease active site. This case points out t
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
EB - Genetics and molecular biology
OECD FORD branch
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Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2014
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
International Journal of Clinical and Experimental Pathology
ISSN
1936-2625
e-ISSN
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Volume of the periodical
7
Issue of the periodical within the volume
8
Country of publishing house
US - UNITED STATES
Number of pages
7
Pages from-to
5196-5202
UT code for WoS article
000345120900069
EID of the result in the Scopus database
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