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

被引：5

作者：

Singh, Preety K. ^{[1
]}

Mistry, Kinnari N. ^{[1
]}

Chiramana, Haritha ^{[2
]}

Rank, Dharamshi N. ^{[3
]}

Joshi, Chaitanya G. ^{[4
]}

机构：

[1] Sardar Patel Univ, Ashok & Rita Patel Inst Integrated Study & Res Bi, Anand 388121, Gujarat, India

[2] Shree Krishna Hosp, Manibhai Shivabhai Patel Canc Ctr, Anand, Gujarat, India

[3] Anand Agr Univ, Dept Anim Breeding & Genet, Anand, Gujarat, India

[4] Anand Agr Univ, Dept Anim Biotechnol, Anand, Gujarat, India

来源：

GENE | 2018年 / 655卷

关键词：

DNA repair; Variant; Breast cancer; Damaging SNPs; DNA-REPAIR GENES; SINGLE NUCLEOTIDE POLYMORPHISM; PROTEIN; RISK; SUSCEPTIBILITY; MUTATIONS; STABILITY; CAPACITY; SERVER;

D O I：

10.1016/j.gene.2018.02.040

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：13 / 19

页数：7

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