From: Common breast cancer risk variants in the post-COGS era: a comprehensive review
Reference | Study design | Populationa | SNPs stratified by ER status | Number of SNPs | Number of cases / controls | Novel SNPs identified in study and later confirmed in COGS (with exceptions noted) |
---|---|---|---|---|---|---|
BCAC, 2006Â [23] | Candidate gene | European and Asian (BCAC) | No | 16 | Variable per SNP | All with borderline statistical significance |
Cox and colleagues, 2007Â [24] | Candidate gene | European and Asian (BCAC) | No | 9 | 11,391 to 18,290 / 14,753 to 22,670 | rs1045485b, rs1982073c |
Easton and colleagues, 2007Â [25] | Multistage GWAS | I/II: English, III: European and Asian (BCAC) | No | I: 227,876, II: 12,711, III: 30 | I: 390 / 364, II:3,990 / 3,916, III: 21,860 / 22,578 | rs889312, rs13281615, rs2981582d, rs3817198 |
Hunter and colleagues, 2007Â [26] | Multistage GWAS | I/II: European American (CGEMS) | No | I: 528,173, II: 8 | I: 1,145 / 1,142, II: 1,776 / 2,072 | rs1219648d, rs2420946d |
Stacey and colleagues, 2007 [27], Stacey and colleagues, 2008 [28] | Multistage GWAS - > candidate gene | I: Icelandic, II: multi-ethnic American (MEC), Swedish, Dutch, Spanish | Yes | I: 311,524, IIa: 9, IIb: 10 | I: 2,183 / 12,877, IIa: 3,898 / 6,921, IIb: 5,028 / 32,090 | rs13387042 (ER+), rs10941679 (ER+), rs3803662e (ER+) |
Zheng and colleagues, 2009 [29] | Multistage GWAS and replication set (R) | I/II/III: Chinese, R: European American | Yes | I: 607,728, II: 29, III: 4, R: 1 | I: 1,505 / 1,522, II: 1,554 / 1,576, III: 3,472 / 900, R: 1,590 / 1,466 | rs2046210 (ER+/ER–) |
Thomas and colleagues, 2009Â [30] | Multistage GWAS | I/II: European and Asian (BCAC) and European American (CGEMS) | Yes | I: 528,173, II: 30,278, III: 24 | I: 1,145 / 1,142, II: 4,547 / 4,434, III: 4,078 / 5,223 | rs999737, rs11249433 (ER+) |
Ahmed and colleagues, 2009Â [31] | Candidate gene in two stages | I/II: European and Asian (BCAC) and European American (CGEMS) | No | I: 814, II: 3 | I: 3,878 / 3,928, II: 33,134 / 36,141 | rs4973768, rs6504950 |
Turnbull and colleagues, 2010Â [32] | Multistage GWAS | I: English, II: European | No | I: 582,886, II: 15 | I: 3,659 / 4,897, II: 11,431 / 11,081 | rs3757318, rs1011970, rs2380205b, rs10995190, rs704010, rs614367 |
Fletcher and colleagues, 2011Â [33] | Multistage GWAS | I/II/III: English | No | I: 296,114, II: 1,223, III:14 | I: 1,136 / 1,142, II: 3,080 / 3,936, III: 4,237 / 5,044 | rs865686 |
Ghoussaini and colleagues, 2012Â [34] | Candidate gene | European and Asian (BCAC) | No | 72 | 54,588 / 58,098 | rs10771399, rs1292011, rs2823093 |
Michailidou and colleagues, 2013Â [35] | Large-scale candidate gene study | 52 BCAC studies (41 European, nine Asian, two African ancestry) | Yes in associated studies | 199,961 (iCOGS array) | 52,675 / 49,436 | 41 SNPsf |