XRCC4 c.1394G>T Single Nucleotide Polymorphisms and Breast Cancer Risk among Filipinos

Julius Adrie Garcia,Maria Cristina Ramos,Teresa Sy Ortin,Noel Angelo Kalacas,Pia Marie Albano

doi:10.31557/apjcp.2019.20.4.1097

Abstract

Background:The identification of cancer-associated single nucleotide polymorphisms (SNP) and mutation genes is a promising approach in recognizing individuals who are at risk of developing cancer. Hence, this study was conducted to determine the association between XRCC4 c.1394G>T SNP and breast cancer development among Filipinos. Methods:Genotyping for XRCC4 c.1394G>T SNP was performed on breast cancer patients (n=103) and their age- and sex- matched clinically healthy controls (n=103) by polymerase chain reaction – restriction fragment length polymorphism. Results:Significant difference in genotype (p=0.007) and allele (p=0.003) frequencies in XRCC4 c.1394G>T was observed between the breast cancer cases and controls. Carriers of the XRCC4 c.1394 G>T genotype were observed to have significantly higher risk of developing breast cancer compared to individuals with T/T genotype (OR=2.67, 95% CI: 1.36 – 5.25). XRCC4 c.1394G>T combined with passive smoking may also significantly increase risk of breast cancer (OR=14.73; 95% CI= 9.88-18.86).Conclusion: XRCC4 c. 1394G>T may be associated with breast cancer development among Filipinos.

Highlights

Breast cancer remains the leading cause of cancer among women worldwide (Sassi et al, 2013)
The identification of cancer-associated single nucleotide polymorphisms (SNP) and mutation genes is a promising approach in recognizing individuals who are at risk of developing cancer
Genotyping for X-ray cross-complementing group 4 (XRCC4) c.1394G>T SNP was performed on breast cancer patients (n=103) and their age- and sex- matched clinically healthy controls (n=103) by polymerase chain reaction – restriction fragment length polymorphism

Summary

Introduction

Breast cancer remains the leading cause of cancer among women worldwide (Sassi et al, 2013). Several studies have shown that some genetic variants of DNA repair genes, such as the X-ray cross-complementing group 4 (XRCC4) gene are associated with breast cancer pathogenesis (Chiu et al, 2008). The XRCC4 gene which encodes for XRCC4 protein is involved in non-homologous end joining (NHEJ) mechanism critical in double strand break repair (West et al, 2000). The XRCC4 protein helps in repairing the DNA double-strand breaks by stimulating the ligation of non-complementary and complementary DNA ends using XRCC4 ligases (Ming- Zhonget al., 2015). This protein plays a pivotal role in the completion of VDJ recombination in order to generate antigen receptors that can collectively recognize different types of molecules (De Fazio et al, 2002). This study is the first to present the possible association of XRCC4 (c.1394G>T) polymorphism with the risk of breast cancer among Filipinos

Materials and Methods

Results

Discussion