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Abstract
Dysregulation of MYBL2 has been associated to tumorigenesis and the S427G polymorphism could induce partial inactivation of MYBL2, associating it with cancer risk. It has previously been shown that MYBL2 was over-expressed in some acute myeloid leukemias (AML), portending poor prognosis. However, to date no studies have investigated the S427G or other genetic variants of MYBL2 in AML. This study analyzed the S427G in 197 AML patients and 179 controls and screened the MYBL2 sequence in patients. In contrast to other studies in solid tumors, the S427G was not associated with the incidence of AML. This study detected four unannotated genetic alterations, of which the Q67X could be involved in MYBL2 dysfunction. Eight polymorphisms were identified, among which the rs73116571, located in a splicing region, was associated with higher incidence in AML and weaker MYBL2 expression, suggesting pre-disposition to AML. Additional functional studies should be performed to verify these genetic variations as possible targets in AML.
Acknowledgments
This study was partially supported by the grants Instituto de Investigación Sanitaria (IIS) La Fe “X contratos post-residentes” (2010/0258); Instituto de Salud Carlos III FIS PS09/01828 and PS13/1640, contratos Rio Hortega 2013 (CM13/00022), CM09/00038 and CM10/00321; Red Temática de Investigación Cooperativa en Cáncer RD06/0020/0031; Ministerio de Ciencia e Innovación BES2008-0080539; Generalitat Valenciana VALi+ d ACIF/ 2011/189 and Prometeo 2011/025.
Potential conflict of interest
Disclosure forms provided by the authors are available with the full text of this article at www.informahealthcare.com/lal
Supplementary material available online
Supplementary Tables I–II and Figure 1 showing further results