Abstract

We performed a case-control study to investigate the associations between seven single nucleotide polymorphisms (SNPs) in the acylphosphatase 2 (ACYP2) gene and breast cancer (BC) risk in a Han Chinese population. There were 183 BC cases and 195 healthy controls included in the study. The SNPs were genotyped using the Sequenom MassARRAY platform. Logistic regression (adjusted for age group, body mass index [BMI], and menopause status), was used to evaluate the associations between the various genotypes and BC risk. Statistical analysis revealed that rs12621038 was associated with a decreased risk of BC in the allele (T vs. C: odds ratio [OR] = 0.71, 95% confidence interval [95% CI] = 0.52–0.94; p = 0.016), homozygous (TT vs. CC: OR = 0.47, 95% CI = 0.24–0.85; p = 0.014), dominant (OR = 0.62; 95% CI = 0.40−0.96; p = 0.032), and additive (OR = 0.68; 95% CI = 0.50–0.92; p = 0.012) models. In addition, we found that rs1682111 and rs17045754 were associated with the risk of BC and correlated with recurrence, and that rs6713088 correlated with tumor size. In sum, our findings reveal significant associations between SNPs in the ACYP2 gene and BC risk in a Han Chinese population.

Highlights

  • Breast cancer (BC) is a lethal malignancy that arises in the breast tissue or ducts

  • We performed a case-control study to investigate the associations between seven single nucleotide polymorphisms (SNPs) in the acylphosphatase 2 (ACYP2) gene and breast cancer (BC) risk in a Han Chinese population

  • We found that rs1682111 and rs17045754 were associated with the risk of BC and correlated with recurrence, and that rs6713088 correlated with tumor size

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Summary

Introduction

Breast cancer (BC) is a lethal malignancy that arises in the breast tissue or ducts. It is a major cause of morbidity and mortality in women worldwide [1]. There were an estimated 231,840 new cases of invasive BC among U.S women in 2015 and 40,290 BC deaths [2]. 5%–10% of all BC cases are hereditary [5]. Previous studies have identified several genes associated with BC susceptibility in various populations such as ACYP2, MACC1, BRCA1, BRCA2, PTEN, CHEK2, BACH1, PALB2, RAD50, and TP53. Rs11125529 in ACYP2 was associated with a risk of hormone-related cancers (breast, ovarian, and prostate) in a European population, [11, 12]

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