Wilms tumor gene 1 (WT1), TP53, RAS/BRAF and KIT aberrations in testicular germ cell tumors

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F16%3A10324082" target="_blank" >RIV/00064165:_____/16:10324082 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/16:10324082 RIV/00216208:11130/16:10324082 RIV/00216208:11120/16:43911254 RIV/00064173:_____/16:N0000134 and 3 more
Result on the web
<a href="http://dx.doi.org/10.1016/j.canlet.2016.04.016" target="_blank" >http://dx.doi.org/10.1016/j.canlet.2016.04.016</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.canlet.2016.04.016" target="_blank" >10.1016/j.canlet.2016.04.016</a>

Result language
angličtina
Original language name
Wilms tumor gene 1 (WT1), TP53, RAS/BRAF and KIT aberrations in testicular germ cell tumors
Original language description
Purpose: Wilms tumor gene 1 (WT1), a zinc-finger transcription factor essential for testis development and function, along with other genes, was investigated for their role in the pathogenesis of testicular germ cell tumors (TGCT). Methods: In total, 284 TGCT and 100 control samples were investigated, including qPCR for WT1 expression and BRAF mutation, p53 immunohistochemistry detection, and massively parallel amplicon sequencing. Results: WTI was significantly (p < 0.0001) under-expressed in TGCT, with an increased ratio of exon 5-lacking isoforms, reaching low levels in chemo-naive relapsed TGCT patients vs. high levels in chemotherapy-pretreated relapsed patients. BRAE V600E mutation was identified in 1% of patients only. p53 protein was lowly expressed in TGCT metastases compared to the matched primary tumors. Of 9 selected TGCT-linked genes, RAS/BRAF and WTI mutations were frequent while significant TP53 and KIT variants were not detected (p = 0.0003). Conclusions: WT1 has been identified as a novel factor involved in TGCT pathogenesis, with a potential prognostic impact. Distinct biologic nature of the two types of relapses occurring in TGCT has been demonstrated. Differential mutation rate of the key TGCT-related genes has been documented.
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FD - Oncology and haematology
OECD FORD branch
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Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Publication year
2016
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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