Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Nat Genet. 2013 Apr;45(4):353-61, 361e1-2. doi: 10.1038/ng.2563.
Breast cancer is the most common cancer among women. Common variants at 27 loci have been identified as associated with susceptibility to breast cancer, and these account for ∼9% of the familial risk of the disease. We report here a meta-analysis of 9 genome-wide association studies, including 10,052 breast cancer cases and 12,575 controls of European ancestry, from which we selected 29,807 SNPs for further genotyping. These SNPs were genotyped in 45,290 cases and 41,880 controls of European ancestry from 41 studies in the Breast Cancer Association Consortium (BCAC). The SNPs were genotyped as part of a collaborative genotyping experiment involving four consortia (Collaborative Oncological Gene-environment Study, COGS) and used a custom Illumina iSelect genotyping array, iCOGS, comprising more than 200,000 SNPs. We identified SNPs at 41 new breast cancer susceptibility loci at genome-wide significance (P < 5 × 10(-8)). Further analyses suggest that more than 1,000 additional loci are involved in breast cancer susceptibility.
乳腺癌是女性最常见的癌症。已经确定了 27 个常见变异位点与乳腺癌易感性相关，这些变异位点占疾病家族风险的约 9%。我们在此报告了 9 项全基因组关联研究的荟萃分析，包括来自欧洲血统的 10052 例乳腺癌病例和 12575 例对照，我们从中选择了 29807 个 SNP 进行进一步基因分型。这些 SNP 在 41 个乳腺癌协会联盟（BCAC）的 41 项研究中，对来自欧洲血统的 45290 例病例和 41880 例对照进行了基因分型。这些 SNP 作为涉及四个联盟（癌症基因-环境协作研究，COGS）的合作基因分型实验的一部分进行了基因分型，使用了包含超过 20 万个 SNP 的定制 Illumina iSelect 基因分型阵列，iCOGS。我们在全基因组显著水平（P < 5×10(-8)）鉴定了 41 个新的乳腺癌易感性位点的 SNP。进一步的分析表明，超过 1000 个其他位点参与了乳腺癌的易感性。
