Table 3 List of potential novel SNP modifiers associated in the case-only analysis for BRCA1 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

ORERh

PER¯i

HRCIMBAj

PCIMBAk

ORBCACl

PBCACm

Phetn

Target geneo

11p11.2

rs80221606

11

47560211

CELF1

Intronic

AT

A

0.76

0.10

0.78

1.12e−10

0.76

6.36e−07

0.98

7.60e−01

1.04

0.01

1.39e−03

Level 2

17q21.2

rs58117746

17

39305775

KRTAP4-5

Pepshift

TGGCAGCAGCTGGGGC

T

0.60

0.39

1.18

4.33e−10

1.15

7.71e−05

1.05

2.20e−02

1.02

0.26

4.60e−04

17q21.2

rs5820435

17

39961558

LEPREL4

Intronic

A

C

0.51

0.45

0.82

9.55e−12

0.85

7.71e−05

1.01

9.00e−01

1.02

0.07

1.06e−08

17q21.2

rs11079012

17

39912880

JUP

Intronic

G

C

0.66

0.31

1.17

7.06e−09

1.18

2.35e−05

0.98

3.10e−01

1.01

0.51

1.15e−07

Level 2

  1. N = 67,469 breast cancer cases (60,212 BCAC cases and 7,257 BRCA1 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 odds-ratio estimated in the case-only ER-negative subgroup analysis.
  10. ip-value in the case-only ER-negative subgroup analysis.
  11. jPer allele hazard ratio estimated in CIMBA cohort analysis.
  12. kp-value found in CIMBA cohort analysis.
  13. lPer allele odds-ratio estimated in BCAC (Michailidou et al.)35.
  14. mp-value in BCAC (Michailidou et al.)35. 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.
  15. np-value of the heterogeneity test by country.
  16. oINQUISIT score level: 1 = most functional evidence supporting a potential link between CCVs and target gene.