Synchronous gastric and sebaceous cancers, a rare manifestation of MLH1-related Muir-Torre syndrome

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/68378041:_____/14:00431950 RIV/00216208:11120/14:43908878 RIV/00064165:_____/14:10284389

Výsledek na webu

<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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Jazyk výsledku

angličtina

Název v původním jazyce

Synchronous gastric and sebaceous cancers, a rare manifestation of MLH1-related Muir-Torre syndrome

Popis výsledku v původním jazyce

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

Název v anglickém jazyce

Synchronous gastric and sebaceous cancers, a rare manifestation of MLH1-related Muir-Torre syndrome

Popis výsledku anglicky

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

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

EB - Genetika a molekulární biologie

OECD FORD obor

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Projekt

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Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2014

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

International Journal of Clinical and Experimental Pathology

ISSN

1936-2625

e-ISSN

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Svazek periodika

7

Číslo periodika v rámci svazku

8

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

7

Strana od-do

5196-5202

Kód UT WoS článku

000345120900069

EID výsledku v databázi Scopus

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