Table 1 Summary of the number of susceptibility loci identified for each phenotype and the proportion of the familial relative risk explained

From: Common variation and heritability estimates for breast, ovarian and prostate cancers

Cancera New locib Total locic FRRd FRR(rarer alleles)e
Breast cancerf 49 76 15% 21%
Prostate cancer 26 78 31% 5%
Ovarian cancer 8 12 4% 36%
ER-negative breast cancerg 4 11i 9%  
Breast cancer in BRCA1 mutation carriersh 5 10 6%
Breast cancer in BRCA2 mutation carriersh 3 15 7%
Ovarian cancer in BRCA1 mutation carriersh 2 7 6%  
aCancer or cancer subtype (ER-negative breast cancer or cancer in BRCA1 or BRCA2 mutation carriers). bTotal number of new susceptibility loci identified for each cancer type across the combined current set of COGS publications. Includes four additional independent loci for breast cancer and three for prostate cancer identified through fine mapping of the 11q13 and 5p15 (TERT) regions, respectively. cTotal number of loci now known, including those established in previous publications at genome-wide significance (see h). dPercentage of familial relative risk (FRR) due to all known loci in column c. See Heritability estimates explained. ePercentage of familial relative risk due to high- or moderate-penetrance alleles. For genes included, see Figure 1. fFor breast cancer, the estimated contribution to FRR of all SNPs selected for the iCOGS array on the basis of evidence of association in a meta-analysis of nine breast cancer GWAS in women of European ancestry was 28%. gAssuming FRR for ER-negative breast cancer is also 2. hIncludes breast or ovarian cancer susceptibility loci in the general population shown to modify cancer risk in BRCA1 or BRCA2 mutation carriers (at P < 0.05) (PLoS Genet. 9, e1003212, 2013 and PLoS Genet. 9, e1003173, 2013). iAt P < 5 × 10–8. Of the known breast cancer susceptibility loci, 43 show evidence of association for ER-negative disease at P < 0.05 (Nat. Genet. doi:10.1038/ng.2561, 27 March 2013).