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Absence of BRAF mutation in pheochromocytoma and paraganglioma

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F17%3A10360729" target="_blank" >RIV/00216208:11110/17:10360729 - isvavai.cz</a>

  • Alternative codes found

    RIV/00216208:11130/17:10360729 RIV/00064203:_____/17:10360729 RIV/00064165:_____/17:10360729

  • Result on the web

    <a href="http://dx.doi.org/10.4149/neo_2017_215" target="_blank" >http://dx.doi.org/10.4149/neo_2017_215</a>

  • DOI - Digital Object Identifier

    <a href="http://dx.doi.org/10.4149/neo_2017_215" target="_blank" >10.4149/neo_2017_215</a>

Alternative languages

  • Result language

    angličtina

  • Original language name

    Absence of BRAF mutation in pheochromocytoma and paraganglioma

  • Original language description

    Pheochromocytomas and Paragangliomas (PHEO/PARA) are rare endocrine tumors originating from the adrenal medulla. More than 20 genes are involved in the tumorigenesis of these tumors, but a substantial part of the causative genetic events remains unexplained. A recent study has reported the presence of the activating BRAF V600E mutation in PCC, suggesting a role for BRAF activation in tumor development. Other studies have not find this mutation. This study investigates the occurrence of the BRAF V600E mutation in these tumors. A cohort of 64 PHEO/PARA were screened for the BRAF V600E mutation using direct Sanger sequencing and QRT-PCR. All cases investigated displayed wild-type without V600E BRAF mutation Taken together with all previously screened tumors up to date, only 1 V600E BRAF mutation has been found among 427 PCCs. These findings imply that the V600E BRAF mutation is a rare event in PHEO/PARA.

  • Czech name

  • Czech description

Classification

  • Type

    J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database

  • CEP classification

  • OECD FORD branch

    30204 - Oncology

Result continuities

  • Project

  • Continuities

    S - Specificky vyzkum na vysokych skolach<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Others

  • Publication year

    2017

  • Confidentiality

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

Data specific for result type

  • Name of the periodical

    Neoplasma

  • ISSN

    0028-2685

  • e-ISSN

  • Volume of the periodical

    64

  • Issue of the periodical within the volume

    2

  • Country of publishing house

    SK - SLOVAKIA

  • Number of pages

    5

  • Pages from-to

    278-282

  • UT code for WoS article

    000402091900015

  • EID of the result in the Scopus database

    2-s2.0-85020485684