TERT promoter mutations are highly recurrent in SHH subgroup medulloblastoma

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14110%2F13%3A00070746" target="_blank" >RIV/00216224:14110/13:00070746 - isvavai.cz</a>

Alternative codes found

RIV/65269705:_____/13:#0002126

Result on the web

<a href="http://download.springer.com/static/pdf/422/art%253A10.1007%252Fs00401-013-1198-2.pdf?auth66=1388904723_bf87a0f47053680330d08a9281ebbab5&ext=.pdf" target="_blank" >http://download.springer.com/static/pdf/422/art%253A10.1007%252Fs00401-013-1198-2.pdf?auth66=1388904723_bf87a0f47053680330d08a9281ebbab5&ext=.pdf</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1007/s00401-013-1198-2" target="_blank" >10.1007/s00401-013-1198-2</a>

Result language

angličtina

Original language name

TERT promoter mutations are highly recurrent in SHH subgroup medulloblastoma

Original language description

Abstract Telomerase reverse transcriptase (TERT) promoter mutations were recently shown to drive telomerase activity in various cancer types, including medulloblastoma. However, the clinical and biological implications of TERT mutations in medulloblastoma have not been described. Hence, we sought to describe these mutations and their impact in a subgroup-specific manner. We analyzed the TERT promoter by direct sequencing and genotyping in 466 medulloblastomas. The mutational distributions were determined according to subgroup affiliation, demographics, and clinical, prognostic, and molecular features. Integrated genomics approaches were used to identify specific somatic copy number alterations in TERT promoter-mutated and wild-type tumors. Overall, TERT promoter mutations were identified in 21 % of medulloblastomas. Strikingly, the highest frequencies of TERT mutations were observed in SHH (83 %; 55/66) and WNT (31 %; 4/13) medulloblastomas derived from adult patients.

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FD - Oncology and haematology

OECD FORD branch

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Project

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Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2013

Confidentiality

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

Name of the periodical

Acta Neuropathologica

ISSN

0001-6322

e-ISSN

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Volume of the periodical

126

Issue of the periodical within the volume

6

Country of publishing house

DE - GERMANY

Number of pages

13

Pages from-to

917-929

UT code for WoS article

000327100500011

EID of the result in the Scopus database

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