Table 2 Known BC susceptibility SNPs demonstrating associations in the BRCA2 case-only analysis.

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

Estimated effect allele

Referent allele

Frequencyd

r2

ORe

Pf

ORBCACg

PBCACh

ORcomputedi

Variation in riskj

5q11.2

rs62355902

5

56053723

MAP3K1

T

A

0.18

0.98

0.89

1.10e−04

1.18

8.50e−42

1.05

TT1

9q31.2

rs10759243

9

110306115

RP11-438P9.2

A

C

0.31

1

0.89

4.60e−06

1.06

4.20e−10

0.95

TT1

22q13.1

chr22_40876234_C_T

22

40876234

MKL1

C

T

0.11

1

0.88

2.8e−04

1.12

5.70e−16

0.98

TT1

  1. N = 62,822 breast cancer cases (57,725 BCAC cases and 5,097 BRCA2 mutation carrier cases).
  2. Considering SNPs with known BC (Michailidou et al.)35 associations in the general population.
  3. TT1 tends to 1, ISD increase in same direction, IOD increase in opposite direction.
  4. aAfter allowing for multiple testing, α* = 2.7 × 10−4.
  5. bChromosome.
  6. cBuild 37 position.
  7. dFrequency of the allele for which effect is estimated in BCAC cases (OncoArray dataset).
  8. ePer 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.
  9. fp-value in the case-only analysis (after allowing for multiple testing, p* = 2.7 × 10−4).
  10. gPer allele odds-ratio estimated in BCAC (Michailidou et al.)35.
  11. hp-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.
  12. iPer allele computed odds-ratio (OR × ORBCAC).
  13. jCompared with Michailidou et al’s OR estimates35.