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Table 5 Estimated FRR for ER-positive and ER-negative disease for recently identified breast cancer susceptibility loci

From: Familial relative risks for breast cancer by pathological subtype: a population-based cohort study

Locus Ref Genes in/near region Variant MAF ER-negative ER-positive
      Hom- GRR Het- GRR FRR* %FRR Hom- GRR Het- GRR FRR* %FRR‡
10q26 [8] FGFR2 rs2981582 0.38 1.18 1.08 1.0016 0.28 1.74 1.28 1.0186 3.08
16q12 [8] TNRC9/TOX3 rs3803662 0.25 1.28 1.16 1.0036 0.63 1.48 1.25 1.0089 1.48
5q11 [8] MAP3KI rs889312 0.28 1.20 1.03 1.0009 0.16 1.26 1.12 1.0028 0.46
8q24 [8] FAM84B/c-MYC rs13281615 0.40 1.09 0.99 1.0003 0.05 1.29 1.11 1.0038 0.63
11p15 [8] LSP1 rs3817198 0.30 1.13 1.01 1.0004 0.07 1.19 1.04 1.0010 0.17
3p24 [6] NEK10/SLC4A7 rs4973768 0.46 1.12 1.06 1.0008 0.15 1.25 1.12 1.0031 0.52
17q22 [6] COX11 rs6504950 0.27 1.06 1.03 1.0002 0.03 0.88 0.94 1.0008 0.13
10p14 [32] CASP8 (D302H) rs1045485 0.13 0.82 0.95 1.0004 0.07 0.83 0.89 1.0013 0.21
2q35 [62] TNP1/IGFBP5/IGFBP2/TNS1 rs13387042 0.52 1.18 1.05 1.0018 0.31 1.29 1.08 1.0043 0.72
1p11.2 [11] NOTCH2/FCGR1B rs1124933 0.40 1.07 1.03 1.0003 0.05 1.42 1.22 1.0078 1.30
14q24.1 [11] RAD51L1 rs999737 0.24 0.76 1.01 1.0005 0.09 0.69 0.93 1.0024 0.40
5p12 [11] MRPS30/FGFR10 rs10941679 0.26 1.01 1.03 1.0001 0.01 1.18 1.17 1.0027 0.46
Total         1.90     9.56
  1. ER: estrogen receptor; FRR: familial relative risk; GRR: genotypic relative risk; Het-GRR: GRR for heterozygotes (reference group: common homozygotes); Hom-GRR: GRR for rare homozygotes; MAF: minor allele frequency for populations of European ancestry; Ref: reference for MAF and GRR data.
  2. * FRR due to susceptibility locus
  3. † %FRR due to susceptibility locus- denominator is FRR for breast cancer for relatives of cases with ER-negative disease (1.78)
  4. ‡ %FRR due to susceptibility locus- denominator is FRR for breast cancer for relatives of cases with ER-positive disease (1.82)