title: Analysis of DNA Repair Genes Polymorphisms in Breast Cancer.
abstract: Genetic polymorphisms in the DNA repair genes may be associated with increased cancer risk. The purpose of this study was to evaluate the association of the DNA repair genes polymorphisms with the risk of breast cancer development. The study included 200 breast cancer patients and 200 healthy controls. The following polymorphisms were studied: C/G (Ser326Cys, rs1052133) of the hOGG1, A/C (IVS5 + 33, rs3212961) of the ERCC1, A/C (Lys939Gln, rs2228001) of the XPC, C/T (Thr241Met, rs861539) of the XRCC3, G/T (Leu787Leu, rs1800392) of the WRN and G/T (Ser307Ser, rs1056503) of the XRCC4 gene. Presented study showed statistically significant increase in the breast cancer development risk of the G/G hOGG1 genotype (OR 8.13; 95 % CI, 4.37-15.14; p < 0.001) and for the G hOGG1 allele (OR 5.11; 95 % CI, 3.69-7.06; p < 0.001), as well as for the C/C ERCC1 genotype (OR 10.61; 95 % CI, 5.72-19.69; p < 0.001) and the C ERCC1 allele (OR 4.66; 95 % CI, 3.43-6.34; p < 0.001) in patients with breast cancer in comparison with healthy control group. We also observed positive association of the C/C XPC genotype (OR 3.80; 95 % CI, 2.27-6.38; p < 0.001) as well as the C XPC allele occurrence with an increased breast cancer development risk (OR 2.65; 95 % CI, 1.98-3.55; p < 0.001). Furthermore, we found an association of the G/T WRN gene polymorphism with increased risk of carcinoma. The hOGG1, ERCC1, XPC and WRN genes polymorphisms may be related to development of breast cancer.
authors: Laboratory of Cancer Genetics, Department of Pathology, Institute of Polish Mother's Memorial Hospital, Rzgowska 281/289, 93-338, Lodz, Poland. hanna-romanowicz@wp.pl.
authors: Hanna
authors: H
authors: Romanowicz
authors: Laboratory of Cancer Genetics, Department of Pathology, Institute of Polish Mother's Memorial Hospital, Rzgowska 281/289, 93-338, Lodz, Poland.
authors: Łukasz
authors: Ł
authors: Pyziak
authors: Laboratory of Cancer Genetics, Department of Pathology, Institute of Polish Mother's Memorial Hospital, Rzgowska 281/289, 93-338, Lodz, Poland.
authors: Filip
authors: F
authors: Jabłoński
authors: Department of Cytobiochemistry, Faculty of Biology and Environmental Protection, University of Lodz, Pomorska 141/143, 90-237, Lodz, Poland.
authors: Magdalena
authors: M
authors: Bryś
authors: Department of Cytobiochemistry, Faculty of Biology and Environmental Protection, University of Lodz, Pomorska 141/143, 90-237, Lodz, Poland.
authors: Ewa
authors: E
authors: Forma
authors: Laboratory of Cancer Genetics, Department of Pathology, Institute of Polish Mother's Memorial Hospital, Rzgowska 281/289, 93-338, Lodz, Poland.
authors: Beata
authors: B
authors: Smolarz
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D001943:Breast Neoplasms / Q000235:genetics*; D016022:Case-Control Studies; D045647:DNA Glycosylases / Q000235:genetics; D004260:DNA Repair / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics; D004720:Endonucleases / Q000235:genetics; D005838:Genotype; D006801:Humans; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012307:Risk Factors; D000071657:Werner Syndrome Helicase / Q000235:genetics
chemical_list: D004268:DNA-Binding Proteins; C086984:XPC protein, human; C071447:ERCC1 protein, human; D004720:Endonucleases; D045647:DNA Glycosylases; C479058:oxoguanine glycosylase 1, human; C098785:WRN protein, human; D000071657:Werner Syndrome Helicase
keywords: Breast cancer; DNA repair; Genes; Polymorphism