Association of CYP2E1, STK15 and XRCC1 Polymorphisms with Risk of Breast Cancer in Malaysian Women.

Eric Tzyy Jiann Chong,Edwin Un Hean See,Ping-Chin Lee,Jitt Aun Chuah,Kek Heng Chua,Lucky Poh Wah Goh

doi:10.7314/apjcp.2016.17.2.647

Eric Tzyy Jiann Chong, Edwin Un Hean See + Show 4 more

Open Access

https://doi.org/10.7314/apjcp.2016.17.2.647

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Abstract

Breast cancer is the most common type of cancer affecting Malaysian women. Recent statistics revealed that the cumulative probability of breast cancer and related deaths in Malaysia is higher than in most of the countries of Southeast Asia. Single nucleotide polymorphisms (SNPs) in CYP2E1 (rs6413432 and rs3813867), STK15 (rs2273535 and rs1047972) and XRCC1 (rs1799782 and rs25487) have been associated with breast cancer risk in a meta-analysis but any link in Southeast Asia, including Malaysia, remained to be determined. Hence, we investigated the relationship between these SNPs and breast cancer risk among Malaysian women in the present case-control study. Genomic DNA was isolated from peripheral blood of 71 breast cancer patients and 260 healthy controls and subjected to polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. Our study showed that the c1/c2 genotype or subjects with at least one c2 allele in CYP2E1 rs3813867 SNP had significantly increased almost 1.8-fold higher breast cancer risk in Malaysian women overall. In addition, the variant Phe allele in STK15 rs2273535 SNP appeared to protect against breast cancer in Malaysian Chinese. No significance association was found between XRCC1 SNPs and breast cancer risk in the population. This study provides additional knowledge on CYP2E1, STK15 and XRCC1 SNP impact of risk of breast cancer, particularly in the Malaysian population. From our findings, we also recommend Malaysian women to perform breast cancer screening before 50 years of age.

Highlights

Breast cancer research remains a challenging subject for researcher worldwide (Hutchinson et al, 2010)
Our study showed that the c1/c2 genotype or subjects with at least one c2 allele in CYP2E1 rs3813867 Single nucleotide polymorphisms (SNPs) had significantly increased almost 1.8-fold higher breast cancer risk in Malaysian women overall
Malaysia is a multiethnic country with majority of Malays, Chinese, and Indians whereas some indigenous ethnic groups (e.g. KadazanDusun, Bajau, Rungus, Sungai, etc.) are dominant in East Malaysia

Summary

Introduction

Breast cancer research remains a challenging subject for researcher worldwide (Hutchinson et al, 2010). (SNPs) in CYP2E1 (rs6413432 and rs3813867), STK15 (rs2273535 and rs1047972) and XRCC1 (rs1799782 and rs25487) were inconclusively associated to breast cancer risk in case-control or meta-analysis studies in different populations (Wu et al, 2006; Bu et al, 2014; Dai et al, 2014; Ding et al, 2014; Feng et al, 2014; Guo et al, 2014; Qin et al, 2015), but association of these SNPs to breast cancer in Southeast Asia populations, especially in Malaysian women was unquestionably insufficient. This pilot study investigates the association of these SNPs, together with etiology factors such as age and ethnicity, to breast cancer risk in Malaysian women

Materials and Methods

Findings

Discussion