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Risk of genome-wide association study newly identified genetic variants for breast cancer in Chinese women of Heilongjiang Province.

Breast Cancer Research and Treatment

Adult, Breast Neoplasms, epidemiology, genetics, Carcinoma, Ductal, Breast, Carcinoma, Intraductal, Noninfiltrating, China, Female, Gene Frequency, Genome-Wide Association Study, Genotype, Humans, Ki-67 Antigen, metabolism, Middle Aged, Odds Ratio, Polymorphism, Single Nucleotide, Receptor, ErbB-2, Receptors, Estrogen, Receptors, Progesterone, Risk Factors, Tumor Markers, Biological, Tumor Suppressor Protein p53

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      Recent genome-wide association studies have identified seven single nucleotide polymorphisms (SNPs) associated with breast cancer, but mainly in Europeans. In this study, the authors evaluated the effect of these loci on breast cancer and its disease characteristics in women from northeast of China, Heilongjiang Province. Seven SNPs were successfully genotyped in 492 breast cancer patients and 510 healthy controls using the SNaPshot method. The associations between SNPs and breast cancer were examined by logistic regression. The associations between SNPs and disease characteristics were examined by the chi-square test or one-way ANOVA as needed. The authors confirmed the effects of the allele A for rs2046210 at 6q25 on increased breast cancer risk in the population, with odds ratio 1.417 (P = 2×10⁻⁴). However, no significant association was detected between SNPs from TNCR9, LSP1, MAP3K1, 2q35, and 8q24 and breast cancer. Analyses of the disease characteristics showed that SNP rs2046210 was associated with age at menopause (P = 0.001). MAP3K1 SNP rs889312 and LSP1 SNP rs3817198 were associated with HER2 status in the patient cohort (P = 0.036 and P = 0.005, respectively). And SNP rs3817198 was also associated with the combined status of estrogen receptor, progesterone receptor, and HER2 (P = 0.012). SNP rs13281615 was associated with age at menarche (P = 0.023), and SNP rs3803662 was associated with average duration of breastfeeding (P = 0.036). All other disease characteristics, including tumor grade, clinical stage, and the status of estrogen receptor or P53, were not significantly associated with any of these variants. These results suggested that the rs2046210 was associated with breast cancer in a Northern Chinese population, and some SNPs were also associated with breast cancer characteristics.

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