title: Polymorphisms in the ERCC1 and XPF genes and risk of breast cancer in a Chinese population.
abstract: Inherited functional single-nucleotide polymorphisms (SNPs) in DNA repair genes may influence the capability of DNA repair and contribute to the risk of breast cancer. We therefore performed a case-control study to investigate the association of three in excision repair cross-complimentary group 1 (ERCC1) and three in xeroderma pigmentosum complementation group F (XPF) with the risk of breast cancer. Genotyping of ERCC1 (rs2298881, rs3212986, and rs11615) and XPF (rs2276465, rs6498486, and rs2276466) was performed in a 384-well plate format on the MassARRAY(®) platform. Odds ratios and their corresponding 95% confidence intervals were used to assess the effect of each SNP on breast cancer risk. The ERCC1 rs11615 variant A/A genotype was associated with increased breast cancer risk in codominant, dominant, and recessive models, and XPF rs6498486 variant C/C genotype carriers have a significantly increased breast cancer risk in codominant, dominant, and recessive models. Individuals with both the ERCC1 rs11615 A allele and XPF rs6498486 C allele had a heavy increased risk of breast cancer compared to double wild-type homozygotes. The present study shows that the ERCC1 rs11615 and XPF rs6498486 polymorphisms are associated with breast cancer risk in a Chinese population. Further large-scale studies are required to elucidate whether these ERCC1 and XPF SNPs interact with environmental factors in the development of breast cancer.
authors.affiliation: Department of Breast, the Second Hospital of Jilin University, Changchun, China.
authors.forename: Zecheng
authors.initials: Z
authors.lastname: Yang
authors.forename: Xuedong
authors.initials: X
authors.lastname: Fang
authors.forename: Xinhong
authors.initials: X
authors.lastname: Pei
authors.forename: Huixiang
authors.initials: H
authors.lastname: Li
mesh_terms: D000328:Adult; D000483:Alleles; D044466:Asian People; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics*; D002681:China / Q000453:epidemiology; D004268:DNA-Binding Proteins / Q000235:genetics*; D004720:Endonucleases / Q000235:genetics*; D005260:Female; D006801:Humans; D008875:Middle Aged; D008957:Models, Genetic; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors
chemical_list: D004268:DNA-Binding Proteins; C095888:xeroderma pigmentosum group F protein; C071447:ERCC1 protein, human; D004720:Endonucleases
references.citation: J Dermatol Sci. 2000 May;23(1):1-11
references.pmid: 10699759
references.citation: Carcinogenesis. 2006 Jul;27(7):1377-85
references.pmid: 16399771
references.citation: Ann Oncol. 2004 Aug;15(8):1194-203
references.pmid: 15277258
references.citation: Mol Cell Biol. 2000 Nov;20(21):7980-90
references.pmid: 11027268
references.citation: PLoS One. 2012;7(11):e49308
references.pmid: 23166636
references.citation: Biochimie. 2003 Nov;85(11):1053-71
references.pmid: 14726013
references.citation: Gastroenterol Clin North Am. 2009 Mar;38(1):27-57, vii
references.pmid: 19327566
references.citation: Breast Cancer Res Treat. 2011 Aug;129(1):203-9
references.pmid: 21424776
references.citation: Nature. 1994 Sep 29;371(6496):432-5
references.pmid: 8090225
references.citation: Cancer Epidemiol Biomarkers Prev. 2007 Oct;16(10):2033-41
references.pmid: 17932351
references.citation: Int J Radiat Oncol Biol Phys. 2005 Jul 1;62(3):665-71
references.pmid: 15936543
references.citation: Nature. 2003 Jan 23;421(6921):436-40
references.pmid: 12540918
references.citation: Cell. 1986 Mar 28;44(6):913-23
references.pmid: 2420469
references.citation: Nat Rev Cancer. 2001 Oct;1(1):22-33
references.pmid: 11900249
references.citation: Science. 2001 Feb 16;291(5507):1284-9
references.pmid: 11181991
references.citation: Carcinogenesis. 2008 Sep;29(9):1758-64
references.pmid: 18332046
references.citation: Pol Merkur Lekarski. 2007 Mar;22(129):200-3
references.pmid: 17682675
references.citation: Exp Mol Med. 2005 Apr 30;37(2):86-90
references.pmid: 15886521
references.citation: Mol Cell. 2003 Dec;12(6):1489-98
references.pmid: 14690602
references.citation: Breast Cancer Res Treat. 2007 Jan;101(1):65-71
references.pmid: 16823510
references.citation: Genes Dev. 2011 Sep 1;25(17):1859-70
references.pmid: 21896658
references.citation: Clin Cancer Res. 2005 Jun 15;11(12):4620-6
references.pmid: 15958648
references.citation: Cancer Treat Rev. 1998 Oct;24(5):331-44
references.pmid: 9861196
references.citation: Crit Rev Oncol Hematol. 2008 Apr;66(1):65-74
references.pmid: 17949989
references.citation: Cancer Epidemiol Biomarkers Prev. 2003 Nov;12(11 Pt 1):1200-4
references.pmid: 14652281
references.citation: Cancer. 2012 Feb 1;118(3):594-602
references.pmid: 21751184
references.citation: Arch Med Sci. 2012 Sep 8;8(4):655-8
references.pmid: 23056077
references.citation: Mutagenesis. 2012 Jan;27(1):67-76
references.pmid: 22002622
references.citation: Lung Cancer. 2012 Jun;76(3):286-91
references.pmid: 22335888
references.citation: Cancer Epidemiol Biomarkers Prev. 2005 Feb;14(2):491-6
references.pmid: 15734977
references.citation: J Biol Chem. 1999 Feb 26;274(9):5637-48
references.pmid: 10026181
references.citation: J Biol Chem. 1997 Sep 19;272(38):23465-8
references.pmid: 9295277