Abstract

We investigated the associations between single nucleotide polymorphisms (SNPs) in the testis-specific Y-encoded-like protein 6 (TSPYL6) gene and breast cancer (BC) susceptibility in the Han Chinese population. A total of 183 BC patients and 195 healthy women were included in the study. Six SNPs in TSPYL6 were genotyped and the association with BC risk analyzed. Odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated using unconditional logistic regression analysis. Multivariate logistic regression analysis was used to identify SNPs that correlated with BC susceptibility. Rs11896604 was associated with a decreased risk of BC based on dominant and genotype models. Rs843706 was associated with an increased risk of BC based on a recessive model. Rs11125529 was associated with decreased BC susceptibility based on a genotype model. Finally, rs843711 inversely correlated with clinical stage III/IV BC. Our findings reveal a significant association between SNPs in the TSPYL6 gene and BC risk in a Han Chinese population.

Highlights

  • Breast cancer (BC) is the most common type of cancer and the leading cause of cancer deaths among women worldwide [1]

  • We investigated the associations between single nucleotide polymorphisms (SNPs) in the testis-specific Y-encoded-like protein 6 (TSPYL6) gene and breast cancer (BC) susceptibility in the Han Chinese population

  • Our findings reveal a significant association between Single nucleotide polymorphisms (SNPs) in the TSPYL6 gene and BC risk in a Han Chinese population

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Summary

Introduction

Breast cancer (BC) is the most common type of cancer and the leading cause of cancer deaths among women worldwide ( in less developed regions including East Asian countries, which accounted for 324,000 deaths or 14.3% of the total) [1]. BC is a multifactorial disease that has been associated with various factors including age, gender, ethnicity, family history, personal history, lifestyle, as well as both hormonal and non-hormonal risk factors [3]. Hereditary BC clusters in families and is typically diagnosed at an earlier age [4]. Studies of twins have indicated that the risk of BC is higher for a monozygotic twin of a co-twin, suggesting that genetic factors play an important role in BC development [5]. Single nucleotide polymorphisms (SNPs) play an important role in the genetic susceptibility to BC. Many genes have been associated with a moderate or high lifetime risk of BC including BRCA1, BRCA2, PALB2, ATM, and CHEK2. Common variants at more than 70 loci have been identified through GWAS and large-scale replication studies [6,7,8,9]

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