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, 2010Â [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, 2013Â [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, 2013Â [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, 2013Â [41] | Large-scale candidate gene study | BRCA2 carriers (CIMBA) | European and European American (majority) | 200,908 on iCOGS array | 10,048 | rs9348512, rs619373, rs184577 |