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. 2020 Aug 31;107(4):778–787. doi: 10.1016/j.ajhg.2020.08.006

Table 1.

Candidate Breast Cancer Risk Genes Identified by eQTL Colocalization Analyses (PPFC > 0.7)

Ensembl ID Gene Name Breast Cancer Risk Association1 Genomic Coordinates (hg19)2 Posterior Probability3 Candidate SNP3 Posterior Explained by SNP3 GTEx eQTL p Value4 Breast Cancer Risk p Value1 Signal Type2
ENSG00000074527.11 NTN4 overall risk chr12:95,527,759–96,527,759 0.9466 rs17356907 0.97 8.01E−09 1.02E−39 strong
ENSG00000141570.10 CBX8 overall risk chr17:77,281,387–78,281,725 0.9178 rs9905914 0.49 7.92E−23 4.00E−09 strong
ENSG00000198945.7 L3MBTL3 overall risk chr6:129,849,119–130,849,119 0.7998 rs7740107 1.00 5.88E−40 2.90E−11 strong
ENSG00000183654.8 MARCH11 overall risk chr5:15,687,358–16,687,528 0.8369 rs1013018 0.16 3.05E−09 1.65E−11 strong
ENSG00000177595.17 PIDD1 overall risk chr11:303,017–1,303,017 0.9695 rs6597981 0.22 6.53E−27 1.35E−12 strong
ENSG00000166965.12 RCCD1 overall risk chr15:91,009,215–92,009,215 0.9633 rs113343095 0.60 2.44E−24 3.37E−15 strong
ENSG00000130511.15 SSBP4 overall risk chr19:18,050,434–19,071,141 0.7800 rs7258465 0.09 7.87E−08 2.79E−28 strong
ENSG00000172748.13 ZNF596 ER− risk chr8:0–670,692 0.9059 rs35346588 0.79 2.17E−08 1.39E−08 strong
ENSG00000258725.1 PRC1-AS1 overall risk chr15:9,100,921–92,009,215 0.9302 rs2290202 0.22 5.89E−10 1.87E−15 strong
ENSG00000251141.5 RP11-53O19.1 overall risk chr5:44,013,304–45,206,498 0.9347 rs10941679 1.00 4.41E−07 5.61E−73 strong
ENSG00000272812.1 RP5-855D21.3 ER− risk chr8:0–670692 0.9769 rs3008281 0.81 6.11E−08 6.23E−09 strong
ENSG00000152348.15 ATG10 overall risk chr5:80,928,261–82,038,046 0.7904 rs144580806 0.36 2.56E−40 8.07E−12 moderate
ENSG00000015133.18 CCDC88C overall risk chr14:91,341,069–92,368,623 0.9465 rs8018155 0.50 9.15E−11 4.03E−12 moderate
ENSG00000163644.14 PPM1K overall risk chr4:88,743,818–89,743,818 0.9935 rs10022462 0.58 1.60E−08 1.55E−09 moderate
ENSG00000233967.6 RP11-250B2.3 overall risk chr6:80,594,287–81,594,287 0.8473 rs9448940 0.22 4.65E−11 9.85E−09 moderate
ENSG00000260645.1 RP11-250B2.5 overall risk chr6:80,594,287–81,594,287 0.8227 rs1436864 0.08 1.97E−08 3.89E−09 moderate
ENSG00000219392.1 RP1-265C24.5 overall risk chr6:26,180,698–27,180,698 0.9901 rs35768595 0.38 5.95E−10 3.16E−09 moderate
1

Michailidou et al.,3 Milne et al.15

2

Regions fine-mapped in Fachal et al.14

3

Results from HyPrColoc. The “posterior explained by SNP” value represents the proportion of the posterior probability explained by the candidate SNP.

4

GTEx v.8 breast mammary tissue summary statistics.