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CYP1B1 and predisposition to breast cancer in Poland
Authors:Joanna Matyjasik  Cezary Cybulski  Bartlomiej Masojć  Anna Jakubowska  Pablo Serrano-Fernandez  Bohdan Górski  Tadeusz Dębniak  Tomasz Huzarski  Tomasz Byrski  Jacek Gronwald  Elzbieta Złowocka  Steven Alexander Narod  Rodney Scott  Jan Lubinski
Affiliation:(1) Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland;(2) Women’s College Research Institute, University of Toronto, 790 Bay Street, 7th Floor, Toronto, Ontario, Canada, M5G 1N8;(3) Discipline of Medical Genetics, Faculty of Health, University of Newcastle and Hunter Medical Research Institute, Newcastle, Australia
Abstract:Background The CYP1B1 gene is a polymorphic member of the P450 gene family and is considered to be a candidate gene for cancers of various types. Objective We inquired whether four SNPs in the CYP1B1 gene, alone or in combination, might be associated with breast cancer risk in Poland. Methods We genotyped 2017 cases of breast cancer and 876 controls, for four SNPs in the CYP1B1 gene. Genotype and haplotype frequencies were compared in cases and controls. Results In combinations of the R48G, A119S and L432V SNPs, four of the eight CYP1B1 haplotypes were more common in controls than in cases and each of these appeared to have a significant protective effect. A large reduction in risk was observed for women who were homozygous for one of these four haplotypes (OR = 0.2; 95%; CI = 0.05–0.5; P = 0.001) compared to women who were homozygous for the most common haplotype. In contrast, women who were homozygous for the GTC haplotype were at increased risk (OR = 1.5; 95%; CI = 1.0–2.1; P = 0.03) compared to women with the most common haplotype. Conclusions The CYP1B1 gene appears to influence breast cancer susceptibility in Poland.
Keywords:CYB1B1  Breast cancer  Susceptibility  Heredity  Association
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