Table 1 Single-variant and burden analyses of FANCM:p.Arg658*, p.Gln1701* and p.Arg1931* truncating variants in overall and country-restricted invasive breast cancer cases and controls

From: The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

 

Overall

Subgroup

Carriers

Non-carriers

Freq %

OR

95% CI

P

FANCM:p.Arg658*

Controls

19

53,717

0.035

NA

  

All cases

31

67,038

0.046

1.26

0.71–2.25

0.430

ER-positive

19

44,516

0.043

1.15

0.61–2.20

0.670

ER-negative

10

10,750

0.093

2.44

1.12–5.34

0.034

TNBC

7

4794

0.146

3.79

1.56–9.18

0.009

FANCM:p.Gln1701*

Controls

122

53,635

0.229

NA

  

All cases

155

66,951

0.232

1.09

0.85–1.38

0.798

ER-positive

97

44,467

0.218

1.02

0.78–1.34

0.893

ER-negative

21

10,748

0.204

0.97

0.61–1.56

0.369

TNBC

10

4794

0.229

1.09

0.57–2.10

0.149

FANCM:p.Arg1931*

Controls

96

53,633

0.179

NA

  

All cases

116

66,968

0.173

1.05

0.80–1.38

0.731

ER-positive

74

44,467

0.166

1.02

0.75–1.38

0.920

ER-negative

27

10,742

0.251

1.52

0.98–2.35

0.070

TNBC

10

4795

0.208

1.29

0.67–2.50

0.461

All variantsa

Controls

237

53,455

0.443

NA

  

All cases

302

66,736

0.452

1.02

0.86–1.21

0.823

ER-positive

190

44,323

0.427

0.96

0.79–1.16

0.698

ER-negative

58

10,700

0.548

1.23

0.92–1.64

0.154

TNBC

27

4773

0.583

1.32

0.89–1.95

0.167

 

Country-restricted

Subgroup

Carriers

Non-carriers

Freq %

OR

95% CI

P

FANCM:p.Arg658*

Controls

19

48,887

0.039

NA

  

All cases

31

59,540

0.052

1.23

0.69–2.20

0.478

ER-positive

19

39,453

0.048

1.12

0.59–2.15

0.722

ER-negative

10

9613

0.104

2.31

1.05–5.07

0.047

TNBC

7

4283

0.163

3.56

1.46–8.69

0.011

FANCM:p.Gln1701*

Controls

120

48,506

0.249

NA

  

All cases

152

58,919

0.259

1.08

0.85–1.38

0.813

ER-positive

96

38,892

0.246

1.02

0.77–1.34

0.895

ER-negative

21

9558

0.230

0.97

0.60–1.56

0.368

TNBC

10

4197

0.261

1.09

0.56–2.10

0.150

FANCM:p.Arg1931*

Controls

77

34,988

0.220

NA

  

All cases

93

37,903

0.245

1.14

0.84–1.54

0.396

ER-positive

59

25,274

0.233

1.09

0.77–1.53

0.632

ER-negative

25

5920

0.421

1.96

1.24–3.10

0.006

TNBC

10

2614

0.381

1.77

0.91–3.45

0.116

All variantsb

Controls

NA

     

All cases

NA

     

ER-positive

NA

     

ER-negative

NA

     

TNBC

NA

     
  1. In bold are indicated the statistically significant results
  2. Freq frequency, OR odds ratio CI confidence interval, P P-value, TNBC triple-negative breast cancer, NA not applicable
  3. aThe burden analyses were performed by univariate logistic regression
  4. bThese analyses were not possible in the country-restricted cases and controls as different countries were included for each variant. P-values were from Pearson chi-squared test
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