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Table 2 Major genome-wide association and candidate gene studies to identify SNPs associated with breast cancer risk in other populations

From: Common breast cancer risk variants in the post-COGS era: a comprehensive review

Reference Study design Populationa Ethnicity Number of SNPs Number of cases / controlsb Novel SNPs identified in study
Gaudet and colleagues, 2010 [78] Multistage GWAS BRCA2 carriers (CIMBA) European and European American (majority) I: 529,163, II: 113 I: 899 / 804, II: 1,263 / 1,222 rs3114994 c
Antoniou 2010 [51] Multistage GWAS I/II: BRCA1 carriers, III: unselected, IV: TNBC I/II: European and European American, III: English, IV: Caucasian (TNBC) I: 555, 616, II: 89, III: 2, IV: 2 I: 1,190 / 1,193, II: 2,974 / 3,012, III: 6,800 / 6,613, IV: 2,301 / 3,949 rs8170d (BRCA1+, ER–, TNBC)
Haiman and colleagues, 2011 [57] Multistage GWAS ER– and TNBC I: African and European American, II: European American I: 3,154,485, II: 1 I: 3,787 / 4,345, II: 2,222 / 16,363 rs10069690d (ER–, TNBC)
Siddiq and colleagues, 2012 [63] Meta-analysis in two stages I: ER– and TNBC, II: ER + and ER– I: African and European American, II: European and Asian (BCAC), Hispanic, Japanese I: variable, II: 86 I: 4,754 / 31,663, II: 11,209 / 8,404 rs17530068d, rs2284378e (ER–)
Garcia-Closas and colleagues, 2013 [39] Large-scale candidate gene study ER– and TNBC in 40 BCAC studies European 13,276 (iCOGS array) 6,514 / 41,455 rs4245739, rs6678914, rs12710696, rs11075995
Zheng and colleagues, 2013 [37] Large-scale candidate gene study I/II: 16 ABCC studies, III: 9 COGS studies Asian (Chinese, Korean, Japanese, Thai) I: 906,602, II: 44, III: 67 on iCOGS array 23,367 / 25,579 Confirmed associations for 31/67 of the established loci
Long and colleagues, 2013 [42] Large-scale candidate gene study SCCS and NBHS studies African-American 67 on iCOGS array 1,231 / 2,069 Confirmed associations for 10/67 of the established loci
Couch and colleagues, 2013 [40] Large-scale candidate gene study BRCA1 carriers (CIMBA) European and European American (majority) I:2,568,349, II: 201,242 on iCOGS, III: 17 I: 1,103 / 1,239, II: 4,637 / 4,681 + 2,387 from stage I, III: 1,394 / 1,252 rs2290854, rs6682208, rs11196174, rs11196175
Gaudet and colleagues, 2013 [41] Large-scale candidate gene study BRCA2 carriers (CIMBA) European and European American (majority) 200,908 on iCOGS array 10,048 rs9348512, rs619373, rs184577
  1. BCAC, Breast Cancer Association Consortium; CIMBA, Consortium of Investigators of Modifiers of BRCA1/2; ER, estrogen receptor; GWAS, genome-wide association study; NBHS, Nashville Breast Health Study; SCCS, Southern Community Cohort Study; SNP, single nucleotide polymorphism; TNBC, triple-negative breast cancer. aAsian Breast Cancer Consortium (ABCC) includes patients of Chinese, Japanese, and Korean descent; the Collaborative Oncological Gene–environment Study (COGS) Asian studies include individuals of Chinese, Japanese, Korean, and Thai descent. bIn the BRCA1/2 GWAS, cases refer to carriers with breast cancer and controls refer to carriers without breast cancer. cSNPs not tested in COGS and not considered an established locus by COGS. dSNPs showing borderline association with breast cancer risk in main COGS breast cancer GWAS. eHighly significant SNPs in main COGS breast cancer GWAS.