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. 2022 Nov 9;109(12):2185–2195. doi: 10.1016/j.ajhg.2022.10.011

Table 4.

TWAS-identified breast cancer risk genes showing a significantly different association by estrogen receptor status

Loci Gene Gene type ER-Positive
ER-Negative
p for ER heterogeneity
Z score P Z score p
1p11.2 SRGAP2C Protein coding −9.45 3.32′10−21 −1.47 0.14 6.99′10−5
1p11.2 H3P4 Pseudogene 8.89 6.05′10−19 1.10 0.27 1.72′10−4
1p11.2 RP11-343N15.2a LincRNA −8.74 2.27′10−18 −1.00 0.32 3.35′10−5
1p11.2 EMBP1 Pseudogene −8.38 5.23′10−17 −0.27 0.78 9.32′10−6
1p36.13 KLHDC7A Protein coding −7.10 1.27′10−12 0.10 0.92 5.79′10−6
1p36.22 DFFA Protein coding 4.37 1.26′10−5 7.60 2.96′10−14 9.54′10−5
1q22 GBAP1 Pseudogene −6.66 2.73′10−11 0.59 0.56 2.54′10−5
1q22 THBS3 Protein coding 5.72 1.07′10−8 −0.89 0.38 8.72′10−5
1q32.1 PTPRVP Pseudogene −1.50 0.14 6.67 2.52′10−11 1.36′10−10
2q35 TNP1 Protein coding 5.85 5.04′10−9 −0.37 0.71 5.44′10−5
5p12 MRPS30-DT Antisense RNA 16.38 2.48′10−60 −0.15 0.88 4.20′10−21
5q11.2 CTD-2310F14.1a Antisense RNA 14.50 1.17′10−47 3.73 1.90′10−4 4.24′10−7
8p23.3 SEPT14P8 Pseudogene −2.29 0.02 −6.00 1.98′10−9 2.53′10−4
19p13.11 ABHD8 Protein coding −0.51 0.61 9.64 5.25′10−22 2.39′10−15
19p13.11 ANKLE1 Protein coding −0.24 0.81 6.74 1.62′10−11 8.17′10−9
a

RP11-343N15.2 (ENSG00000231429) and CTD-2310F14.1 (ENSG00000271828) do not have gene symbols in HUGO yet.

HHS Vulnerability Disclosure