Literature DB >> 29452234

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

Preety K Singh1, Kinnari N Mistry2, Haritha Chiramana3, Dharamshi N Rank4, Chaitanya G Joshi5.   

Abstract

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.
Copyright © 2018 Elsevier B.V. All rights reserved.

Entities:  

Keywords:  Breast cancer; DNA repair; Damaging SNPs; Variant

Mesh:

Substances:

Year:  2018        PMID: 29452234     DOI: 10.1016/j.gene.2018.02.040

Source DB:  PubMed          Journal:  Gene        ISSN: 0378-1119            Impact factor:   3.688


  2 in total

Review 1.  Epigenetic Mechanisms in DNA Double Strand Break Repair: A Clinical Review.

Authors:  Alejandra Fernandez; Connor O'Leary; Kenneth J O'Byrne; Joshua Burgess; Derek J Richard; Amila Suraweera
Journal:  Front Mol Biosci       Date:  2021-07-07

2.  Polymorphisms Within DNA Double-Strand Breaks Repair-Related Genes Contribute to Structural Chromosome Abnormality in Recurrent Pregnancy Loss.

Authors:  Zhenbo Cheng; Dehua Cheng; Jiancheng Li; Lihuang Guo; Wei Zhang; Conghui Zhang; Yangxu Liu; Yue Huang; Keqian Xu
Journal:  Front Genet       Date:  2021-12-23       Impact factor: 4.599

  2 in total

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