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Table 3 SNPs found to be associated with Estrogen receptor status in breast cancer among BRCA1 and BRCA2 pathogenic variants carriers

From: Insights into genetic modifiers of breast cancer risk in carriers of BRCA1 and BRCA2 pathogenic variants

BRCA1 mutation carriers

ER-positive

ER-negative

Gene

Locus

SNP

Sample size

Unaffected

ER+

ER-

HR (95% CI)

P

HR (95% CI)

P

Genotyping platform

Ref

BABAM1

19p13.1

rs8170

6844

4483

541

1820

1.12 (0.96–1.29)

0.15

1.23 (1.14–1.33)

2.0 × 10− 7

iPLEX

[43]

BABAM1

19p13.1

rs67397200

6849

4486

542

1821

1.14 (1.01–1.30)

0.04

1.22 (1.14–1.30)

4.4 × 10− 9

iPLEX

[43]

CASP8

2q33

rs1045485

60 128

36 976

17 805

5347

0.96 (0.93-1.00)

0.06

0.90 (0.84–0.96)

0.001

Illumina, iPLEX

[46]

LSP1

11p15.5

rs3817198

8628

3996

438

1435

1.07 (0.93–1.22)

0.33

1.07 (1.00-1.15)

0.047

iPLEX, TaqMan

[47]

BRCA2 mutation carriers

FGFR2

10q26.13

rs2981582

4738

2102

841

263

1.35 (1.23–1.48)

1.4 × 10− 10

1.14 (0.97–1.35)

0.12

iPLEX, TaqMan

[47]

TOX3/

TNRC9

16q12.1

rs3803662

4563

2037

815

255

1.28 (1.16–1.41)

1.5 × 10− 6

1.06 (0.88–1.29)

0.53

iPLEX, TaqMan

[47]

LSP1

11p15.5

rs3817198

5354

2332

1022

320

1.17 (1.07–1.28)

5.5 × 10− 4

1.03 (0.81–1.22)

0.70

iPLEX, TaqMan

[47]

SLC4A7/NEK10

3p24.1

rs4973768

5669

2528

1108

329

1.13 (1.04–1.22)

0.0043

1.02 (0.88–1.19)

0.78

iPLEX, TaqMan

[47]