ATM and TP53 mutations show mutual exclusivity but distinct clinical impact in mantle cell lymphoma patients

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F65269705%3A_____%2F19%3A00070945" target="_blank" >RIV/65269705:_____/19:00070945 - isvavai.cz</a>
Alternative codes found
RIV/00216224:14110/19:00108352
Result on the web
<a href="https://www.tandfonline.com/doi/abs/10.1080/10428194.2018.1542144" target="_blank" >https://www.tandfonline.com/doi/abs/10.1080/10428194.2018.1542144</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1080/10428194.2018.1542144" target="_blank" >10.1080/10428194.2018.1542144</a>

Result language
angličtina
Original language name
ATM and TP53 mutations show mutual exclusivity but distinct clinical impact in mantle cell lymphoma patients
Original language description
Mantle cell lymphoma (MCL) is characterized by the hallmark t(11;14)(q13;q32) translocation, leading to cyclin D1 over-expression. Additionally, disrupting the DNA damage response pathway through ATM or TP53 defects plays an important role in MCL pathogenesis. Using deep next-generation sequencing we analyzed the mutual composition of ATM and TP53 mutations in 72 MCL patients, and assessed their impact on progression-free survival (PFS) and overall survival (OS). Mutated ATM and TP53 alleles were found in 51% (37/72) and 22% (16/72) of the cases examined, respectively, with only three patients harboring mutations in both genes. Only a mutated TP53 gene was associated with the significantly reduced PFS and OS and the same output was observed when ATM and TP53 defective groups included also sole deletions 11q and 17p, respectively. Determining the exact ATM/p53 pathway dysfunction may influence the selection of MCL patients for innovative therapies based on the targeted inhibition of selected proteins.
Czech name
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Czech description
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Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30204 - Oncology

Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year
2019
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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