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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)