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Table 1 Breast cancer association results

From: Deep targeted sequencing of 12 breast cancer susceptibility regions in 4611 women across four different ethnicities

Region

Index SNP (locus)

Chromosome

Length (Mbp)

SNV MAF ≤0.005

SNV MAF >0.005

High-impact SNVsb

p value (index SNP)

p value (top SNP)

Conditional analysis on top SNP p value (top SNP)

Conditional analysis on index SNP p value (top SNP)

1

rs13387042 (2q35)

2

0.122

3469

674

0

0.00016

2.68E-05 (rs6721996)

0.0070 (rs116670542)

0.0066 (rs116670542)

2

rs10069690 (TERT)

5

0.046

1681

167

0

0.0044

0.0044 (rs10069690)

0.025 (rs34768248)

0.025 (rs34768248)

3

rs889312 (MAP3K1)

5

0.308

6663

986

4

0.098

0.00035 (rs111944656)

0.0022 (rs79128470)

0.0021 (rs111944656)

4

rs2046210a (ESR1)

6

0.243

4209

727

10

0.015

0.00023 (rs9383938)

0.0074 (rs80347946)

0.0077 (rs80347946)

5

rs1562430 (8q24)

8

0.973

20,730

3260

5

0.18

9.87E-05 (rs112613843)

0.00020 (rs4871810)

0.00019 (rs4871841)

6

rs10995190 (ZNF365)

10

0.876

7635

1056

1

0.76

2.7E-05 (rs12570941)

0.0085 (rs73282644)

5.39E-05 (rs12570941)

7

rs704010 (ZMIZ1)

10

0.398

13,622

1822

4

0.019

0.00025 (Chr10-81107117)

0.00076 (rs117770051)

0.00019 (Chr10-81107117)

8

rs2981579 (FGFR2)

10

0.473

20,081

3033

15

0.00046

4.42E-05 (rs10736303)

0.00020 (rs192776427)

0.00024 (rs192776427)

9

rs614367 (11q13)

11

0.259

6743

1010

5

0.75

2.15E-06 (rs61041893)

0.00032 (rs11823311)

5.47E-05 (rs598003)

10

rs999737 (RAD51B)

14

0.815

15,992

2025

8

0.067

0.00050 (rs76904544)

0.00086 (rs113627141)

0.00074 (rs113627141)

11

rs3803662 (TOX3)

16

0.269

7337

910

0

0.036

0.00013 (rs12922061)

0.0013 (rs8048809)

0.0013 (rs4784227)

12

rs8170 (MERIT40)

19

0.712

13,080

1880

31

0.67

0.0035 (rs62126223)

0.0069 (rs117673644)

0.0035 (rs62126223)

  1. MAF Minor allele frequency, SNP Single-nucleotide polymorphism, SNV Single-nucleotide variant
  2. The results shown are derived from genome-wide association study index single-nucleotide polymorphisms and best associated single-nucleotide variant in sequenced regions spanning 12 breast cancer genome-wide association study loci. Results are also shown for conditional analysis adjusted for either best associated (“top”) SNP or the original index genome-wide association study SNP
  3. aSNP was filtered in quality control, p value for rs12662670
  4. bAs defined by SnpEff [43]