title: Significant association of XPD Asp312Asn polymorphism with breast cancer in Taiwanese patients.
abstract: The DNA repair gene XPD, an important caretaker of the overall genome stability, is thought to play a major role in the development of human malignancy. Polymorphic variants of XPD, at Asp312Asn (rs1799793), Lys751Gln (rs13181), and promoter C-114G (rs3810366), were chosen to be studied of their association with breast cancer susceptibility in a central Taiwanese population. In this hospital-based case-control study, the associations of XPD Asp312Asn, Lys751Gln and promoter C-114G polymorphisms with breast cancer risk were investigated. In total, 1232 patients with breast cancer and 1433 healthy controls recruited from the China Medical Hospital in Central Taiwan were genotyped. We found a significant difference in the frequency of the XPD Asp312Asn genotype, but not the XPD Lys751Gln or promoter C-114G genotypes, between the breast cancer and control groups. Those who had G/A or A/A at XPD Asp312Asn showed a 1.78-fold (95% confidence interval = 1.53-2.08) increased risk of breast cancer compared to those with G/G. As for XPD Lys751Gln or promoter C-114G, there was no difference in distribution between the breast cancer and control groups. Our findings suggest that the heterozygous and homozygous A allele of the XPD Asp312Asn may be associated with the development of breast cancer and may be a useful marker for primary prevention and anticancer intervention.
authors.affiliation: Department of Surgery, China Medical University Hospital, Taiwan, ROC.
authors.forename: Hwei-Chung
authors.initials: HC
authors.lastname: Wang
authors.forename: Chiu-Shong
authors.initials: CS
authors.lastname: Liu
authors.forename: Chung-Hsing
authors.initials: CH
authors.lastname: Wang
authors.forename: Ru-Yin
authors.initials: RY
authors.lastname: Tsai
authors.forename: Chia-Wen
authors.initials: CW
authors.lastname: Tsai
authors.forename: Rou-Fen
authors.initials: RF
authors.lastname: Wang
authors.forename: Chao-Hsiang
authors.initials: CH
authors.lastname: Chang
authors.forename: Yueh-Sheng
authors.initials: YS
authors.lastname: Chen
authors.forename: Chang-Fang
authors.initials: CF
authors.lastname: Chiu
authors.forename: Da-Tian
authors.initials: DT
authors.lastname: Bau
authors.forename: Chih-Yang
authors.initials: CY
authors.lastname: Huang
mesh_terms: D000368:Aged; D000483:Alleles; D044466:Asian People / Q000208:ethnology* / Q000235:genetics*; D014408:Biomarkers, Tumor / Q000235:genetics; D001943:Breast Neoplasms / Q000453:epidemiology / Q000208:ethnology* / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics; D005838:Genotype; D006801:Humans; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D015995:Prevalence; D012307:Risk Factors; D013624:Taiwan / Q000453:epidemiology; D051759:Xeroderma Pigmentosum Group D Protein / Q000235:genetics*
chemical_list: D014408:Biomarkers, Tumor; D051759:Xeroderma Pigmentosum Group D Protein; C497292:ERCC2 protein, human