Single nucleotide polymorphisms of the c-MYC gene’s relationship with formation of Burkitt’s lymphoma using bioinformatics analysis

Abstract

Burkitt's lymphoma (BL) is an aggressive form of non-Hodgkin lymphoma, originates from germinal center B cells, MYC gene (MIM ID 190080) is an important proto-oncogene transcriptional factor encoding a nuclear phosphoprotein for central cellular processes. Dysregulated expression or function of c-MYC is one of the most common abnormalities in BL. This study focused on the investigation of the possible role of single nucleotide polymorphisms (SNPs) in MYC gene associated with formation of BL.MYC SNPs were obtained from NCBI database. SNPs in the coding region that are nonsynonymous (nsSNPs) were analysed by multiple programs such as SIFT, Polyphen2, SNPs&GO, PHD-SNP and I-mutant. In this study, a total of 286 Homo sapiens SNPs were found. Roughly, forty-eight of them were deleterious and were furtherly investigated. Eight SNPs were considered most disease causing [rs4645959 (N26S), rs4645959 (N25S), rs141095253 (P396L), rs141095253 (P397L), rs150308400 (C233Y), rs150308400 (C147Y), rs150308400 (C147Y), rs150308400 (C148Y)] according to the four softwares used. Two of which have not been reported previously [rs4645959 (N25S), rs141095253 (P396L)]. SNPs analysis helps is a diagnostic marker which helps in diagnosing and consequently, finding therapeutics for clinical diseases. This is through SNPs genotyping arrays and other techniques. Thus, it is highly recommended to confirm the findings in this study in vivo and in vitro.

Distinct genetic alterations in Burkitt-like lymphoma with 11q aberration and Burkitt lymphoma: a novel case report of composite lymphoma

“…A missense mutation of MYC (p.P72S), which is known to be pathogenic, was detected in the BL component, whereas it was not identified in the BLL-11q component. 5 Interestingly, these two components exhibited common mutations in TP53 I195N gene, which is likely oncogenic, and KMT2D R5027Q of unknown biologic significance. 6,7 After the surgery, the patient was treated with a dose-adjusted etoposide, prednisone, vincristine, cyclophosphamide, doxorubicin, and rituximab (EPOCH-R) regimen.…”