Genetic Variants at 1p11.2 and Breast Cancer Risk: A Two-Stage Study in Chinese WomenReport as inadecuate

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Genome-wide association studies GWAS have identified several breast cancer susceptibility loci, and one genetic variant, rs11249433, at 1p11.2 was reported to be associated with breast cancer in European populations. To explore the genetic variants in this region associated with breast cancer in Chinese women, we conducted a two-stage fine-mapping study with a total of 1792 breast cancer cases and 1867 controls.

Methodology-Principal Findings

Seven single nucleotide polymorphisms SNPs including rs11249433 in a 277 kb region at 1p11.2 were selected and genotyping was performed by using TaqMan® OpenArray™ Genotyping System for stage 1 samples 878 cases and 900 controls. In stage 2 914 cases and 967 controls, three SNPs rs2580520, rs4844616 and rs11249433 were further selected and genotyped for validation. The results showed that one SNP rs2580520 located at a predicted enhancer region of SRGAP2 was consistently associated with a significantly increased risk of breast cancer in a recessive genetic model Odds Ratio OR  =  1.66, 95% confidence interval CI  =  1.16–2.36 for stage 2 samples; OR  =  1.51, 95% CI  =  1.16–1.97 for combined samples, respectively. However, no significant association was observed between rs11249433 and breast cancer risk in this Chinese population dominant genetic model in combined samples: OR  =  1.20, 95% CI  =  0.92–1.57.


Genotypes of rs2580520 at 1p11.2 suggest that Chinese women may have different breast cancer susceptibility loci, which may contribute to the development of breast cancer in this population.

Author: Yue Jiang , Hao Shen , Xiao-an Liu, Juncheng Dai, Guangfu Jin, Zhenzhen Qin, Jiaping Chen, Shui Wang, Xinru Wang, Zhibin Hu, Hong



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