Authors: Byung Ho Son Mi Kyung Kim Young Mi Yun Hee Jeong Kim Jong Han Yu Beom Seok Ko Hanna Kim Sei Hyun Ahn
Publish Date: 2014/10/17
Volume: 141, Issue: 4, Pages: 633-645
Abstract
Breast cancer patients n = 830 and the hospital healthy controls n = 390 with both clinical information and SNP data were included in the study Age was divided into three groups premenopausal under 35 years n = 64 premenopausal over 35 years n = 456 and postmenopausal women n = 310 respectively Tumor subtype was classified into four subtypes luminal A luminal B HER2overexpressing and triplenegative respectively Genotyping of the selected SNPs in ESR1 ESR2 CYP1A1 CYP1B1 and COMT was conducted using the VeraCode Golden Gate Genotyping Assay Technology Multiple logistic regression models dominant recessive and additive were applied to determine the odds ratio 95 confidence interval and p valueESR1 rs2881766 rs2077647 rs926778 and rs2273206 polymorphisms increased breast cancer risk and rs3798377 decreased the risk in overall patients The association between SNP genotype and breast cancer risk was varied according to age groups and tumor subtypes For age subgroups rs2881766 increased breast cancer risk in the all three age groups and rs926778 increased the risk in premenopausal over 35 years women and in postmenopausal women For the tumor subtypes rs2881766 increased breast cancer risk manly in luminal A HER2overexpressing and triplenegative subtypes except for luminal B subtype and rs926778 increased the risk in luminal A and triplenegative subtypes Rs3798577 decreased the risk in luminal B and triplenegative subtypesThe results showed that ESR1 rs2881766 polymorphism increased breast cancer risk and rs3798377 decreased the risk in Korean women Because of wide variation of the association between SNP genotype and breast cancer risk according to age group and tumor subtypes further studies such as a largescale cohort study need for validation and test of biologic significance
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