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Exploring the deleterious SNPs in XRCC4 gene using computational approach and studying their association with breast cancer in the population of West India

Singh, Preety K., Mistry, Kinnari N., Chiramana, Haritha, Rank, Dharamshi N., Joshi, Chaitanya G.
Gene 2018 v.655 pp. 13-19
DNA repair, breast neoplasms, carcinogenesis, genes, proteins, risk, single nucleotide polymorphism, India
Non-homologous end joining (NHEJ) pathway has pivotal role in repair of double-strand DNA breaks that may lead to carcinogenesis. XRCC4 is one of the essential proteins of this pathway and single-nucleotide polymorphisms (SNPs) of this gene are reported to be associated with cancer risks. In our study, we first used computational approaches to predict the damaging variants of XRCC4 gene. Tools predicted rs79561451 (S110P) nsSNP as the most deleterious SNP. Along with this SNP, we analysed other two SNPs (rs3734091 and rs6869366) to study their association with breast cancer in population of West India. Variant rs3734091 was found to be significantly associated with breast cancer while rs6869366 variant did not show any association. These SNPs may influence the susceptibility of individuals to breast cancer in this population.