Table 4 List of potential novel SNP modifiers associated in the case-only analysis for BRCA2 mutation carriers.

From: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Location

SNP namea

Chrb

Positionc

Nearest gene

Localisation

Estimated effect allele

Referent allele

r² d

Frequencye

ORf

Pg

HRCIMBAh

PCIMBAi

ORBCACj

PBCACk

PHETl

Target genem

2p14

rs12470785

2

67634003

ETAA1

Intron

G

A

0.98

0.30

0.84

2.83e−11

0.89

1.69e−05

0.98

0.03

2.18e−07

Level 2

13q13.1

rs79183898

13

32221794

B3GALTL - RXFP2

Intergenic

A

T

0.84

0.07

1.33

2.88e−10

1.04

3.55e−01

1.01

0.54

1.12e−08

13q13.1

rs736596

13

33776506

STARD13

Intron

T

G

0.66

0.09

1.37

3.44e−12

0.94

2.54e−01

0.98

0.45

4.99e−11

Level 1

13q13.2

rs4943263

13

35376357

RP11-266E6.3 - RP11-307O13.1

Intergenic

T

C

0.99

0.27

1.17

8.33e−11

1.01

9.83e−01

1.00

0.47

6.94e−03

Level 2

  1. N = 62,822 breast cancer cases (57,725 BCAC cases and 5,097 BRCA2 mutation carrier cases).
  2. aThe most significant SNP of each region after allowing for multiple testing, α* = 10−8
  3. bChromosome.
  4. cBuild 37 position.
  5. dImputation accuracy.
  6. eFrequency of the allele for which effect is estimated in BCAC cases (OncoArray dataset).
  7. fPer allele odds ratio estimated in the case-only analysis. OR values were computed from a two sided logistic regression using a 1 df lrtest adjusted for age at BC diagnosis, country and the first four principal components.
  8. gp-value in the case-only analysis.
  9. hPer allele hazard ratio estimated in CIMBA cohort analysis.
  10. ip-value found in CIMBA cohort analysis.
  11. jPer allele odds-ratio estimated in BCAC (Michailidou et al.)35.
  12. kp-value in BCAC (Michailidou et al. 2017). For SNPs with PBCAC > 10−8, significance was attained in merging data of Oncoarray, iCOGS and 11 different breast cancer GWAS in Michailidou et al.35.
  13. lp-value of the heterogeneity test by country.
  14. mINQUISIT score level: 1 = most functional evidence supporting potential link between CCVs and target gene.