Vol 13: Germline variants in MRE11-RAD50-NBN complex genes in childhood leukemia.Reportar como inadecuado



 Vol 13: Germline variants in MRE11-RAD50-NBN complex genes in childhood leukemia.


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This article is from BMC Cancer, volume 13.AbstractBackground: The MRE11, RAD50, and NBN genes encode proteins of the MRE11-RAD50-NBN (MRN) complex involved in cellular response to DNA damage and the maintenance of genome stability. In our previous study we showed that the germline p.I171V mutation in NBN may be considered as a risk factor in the development of childhood acute lymphoblastic leukemia (ALL) and some specific haplotypes of that gene may be associated with childhood leukemia. These findings raise important questions about the role of mutations in others genes of the MRN complex in childhood leukemia. The aim of this study was to answer the question whether MRE11 and RAD50 alterations may be associated with childhood ALL or AML. Methods: We estimated the frequency of constitutional mutations and polymorphisms in selected regions of MRE11, RAD50, and NBN in the group of 220 children diagnosed with childhood leukemias and controls (n=504-2200). The analysis was performed by specific amplification of region of interest by PCR and followed by multi-temperature single-strand conformation polymorphism (PCR-MSSCP) technique. We performed two molecular tests to examine any potential function of the detected the c.551+19G>A SNP in RAD50 gene. To our knowledge, this is the first analysis of the MRE11, RAD50 and NBN genes in childhood leukemia. Results: The frequency of either the AA genotype or A allele of RAD50 rs17166050 were significantly different in controls compared to leukemia group (ALL+AML) (p



Autor: Mosor, Maria; Ziolkowska-Suchanek, Iwona; Nowicka, Karina; Dzikiewicz-Krawczyk, Agnieszka; Januszkiewicz-Lewandowska, Danuta; Nowak, Jerzy

Fuente: https://archive.org/



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