title: Association Between Single Nucleotide Polymorphisms in DNA Polymerase Kappa Gene and Breast Cancer Risk in Chinese Han Population: A STROBE-Compliant Observational Study.
abstract: DNA polymerases are responsible for ensuring stability of the genome and avoiding genotoxicity caused by a variety of factors during DNA replication. Consequently, these proteins have been associated with an increased cancer risk. DNA polymerase kappa (POLK) is a specialized DNA polymerase involved in translesion DNA synthesis (TLS) that allows DNA synthesis over the damaged DNA. Recently, some studies investigated relationships between POLK polymorphisms and cancer risk, but the role of POLK genetic variants in breast cancer (BC) remains to be defined. In this study, we aimed to evaluate the effects of POLK polymorphisms on BC risk.We used the Sequenom MassARRAY method to genotype 3 single nucleotide polymorphisms (SNPs) in POLK (rs3213801, rs10077427, and rs5744533), in order to determine the genotypes of 560 BC patients and 583 controls. The association of genotypes and BC was assessed by computing the odds ratio (OR) and 95% confidence intervals (95% CIs) from logistic regression analyses.We found a statistically significant difference between patient and control groups in the POLK rs10077427 genotypic groups, excluding the recessive model. A positive correlation was also found between positive progesterone receptor (PR) status, higher Ki67 index, and rs10077427 polymorphism. For rs5744533 polymorphism, the codominant, dominant, and allele models frequencies were significantly higher in BC patients compared to healthy controls. Furthermore, our results indicated that rs5744533 SNP has a protective role in the postmenopausal women. However, we failed to find any associations between rs3213801 polymorphism and susceptibility to BC.Our results indicate that POLK polymorphisms may influence the risk of developing BC, and, because of this, may serve as a prognostic biomarker among Chinese women.
authors.affiliation: From the Department of Oncology, Second Affiliated Hospital of Xi'an Jiaotong University (Z-JD, X-HL, X-JW, H-FK, H-TG, MW, KL, CD, X-WY, X-JW); Department of Immunology and Pathogenic Biology, Xi'an Jiaotong University (Y-FM); National Engineering Research Center for Miniaturized Detection Systems, School of Life Sciences, Northwest University (T-BJ); and Department of Anesthesia, Second Affiliated Hospital of Xi'an Jiaotong University, Xi'an, China (Z-MD).
authors.forename: Zhi-Jun
authors.initials: ZJ
authors.lastname: Dai
authors.forename: Xing-Han
authors.initials: XH
authors.lastname: Liu
authors.forename: Yun-Feng
authors.initials: YF
authors.lastname: Ma
authors.forename: Hua-Feng
authors.initials: HF
authors.lastname: Kang
authors.forename: Tian-Bo
authors.initials: TB
authors.lastname: Jin
authors.forename: Zhi-Ming
authors.initials: ZM
authors.lastname: Dai
authors.forename: Hai-Tao
authors.initials: HT
authors.lastname: Guan
authors.forename: Meng
authors.initials: M
authors.lastname: Wang
authors.forename: Kang
authors.initials: K
authors.lastname: Liu
authors.forename: Cong
authors.initials: C
authors.lastname: Dai
authors.forename: Xue-Wen
authors.initials: XW
authors.lastname: Yang
authors.forename: Xi-Jing
authors.initials: XJ
authors.lastname: Wang
mesh_terms: D000328:Adult; D017677:Age Distribution; D044466:Asian People / Q000235:genetics; D001943:Breast Neoplasms / Q000208:ethnology* / Q000235:genetics* / Q000473:pathology; D016022:Case-Control Studies; D002681:China / Q000453:epidemiology; D015331:Cohort Studies; D016001:Confidence Intervals; D004259:DNA-Directed DNA Polymerase / Q000235:genetics*; D005260:Female; D015972:Gene Expression Regulation, Neoplastic; D020022:Genetic Predisposition to Disease / Q000453:epidemiology*; D006801:Humans; D015994:Incidence; D016015:Logistic Models; D008875:Middle Aged; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D018570:Risk Assessment; D015996:Survival Rate; D000099270:Y-Family DNA Polymerases
chemical_list: D004259:DNA-Directed DNA Polymerase; C404302:POLK protein, human; D000099270:Y-Family DNA Polymerases