Skip to main content

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.