Table 1 Frequency of TEX15, FANCD2 and RNF168 mutations in the studied Finnish case-control cohorts.

From: Case-control analysis of truncating mutations in DNA damage response genes connects TEX15 and FANCD2 with hereditary breast cancer susceptibility

Mutation

Study cohort

Cohort

N

WT

(%)

Mut

(%)

OR

95% CI

p a

TEX15

Oulu

Hereditary BC

247

244

(98.8)

3

(1.2)

14.6

1.5–141.1

0.018

c.7253dupT

 

BRCA1/2 neg.

228

225

(98.7)

3

(1.3)

15.9

1.6–153.1

0.014

Leu2418PhefsTer6

 

Unselected BC

1317

1314

(99.8)

3

(0.2)

2.7

0.3–26.1

0.627

rs760604179

 

All BC

1564

1558

(99.6)

6

(0.4)

4.6

0.6–38.1

0.149

  

Controls

1190

1189

(99.9)

1

(0.1)

   
 

Tampere

Hereditary BC

87

87

(100)

0

(ND)

NA

NA

NA

  

Controls

93

93

(100)

0

(ND)

   
 

Helsinki

Hereditary BC

581

581

(100)

0

(ND)

NA

NA

NA

  

Controls

640

640

(100)

0

(ND)

   

TEX15

Oulu

Hereditary BC

247

240

(97.2)

7b

(2.8)

2.7

1.1–6.8

0.063

c.8325G > A

 

BRCA1/2 neg.

228

222

(97.4)

6

(2.6)

2.5

0.9–6.6

0.104

Trp2775Ter

 

Unselected BC

1318

1308

(99.2)

10

(0.8)

0.7

0.3–1.6

0.411

rs146619272

 

All BC

1565

1548

(98.9)

17b

(1.1)

1.0

0.5–2.1

1.000

  

Controls

1203

1190

(98.9)

13

(1.1)

   
 

Tampere

Hereditary BC

87

86

(98.9)

1

(1.1)

NA

NA

0.481

  

Controls

94

94

(100)

0

(ND)

   
 

Helsinki

Hereditary BC

986

977

(99.1)

9c

(0.9)

1.0

0.4–2.5

1.000

  

Controls

1088

1078

(99.1)

10

(0.9)

   

FANCD2

Oulu

Hereditary BC

247

244

(98.8)

3b

(1.2)

7.5

1.3–45.3

0.036

c.2715 + 1G > A

 

BRCA1/2 neg.

228

226

(99.1)

2

(0.9)

5.4

0.8–38.7

0.118

E906LfsX4

 

Unselected BC

1152

1150

(99.8)

2

(0.2)

1.1

0.2–7.6

1.000

rs201811817

 

All BC

1399

1394

(99.6)

5b

(0.4)

2.2

0.4–11.3

0.459

  

Controls

1228

1226

(99.8)

2

(0.2)

   
 

Tampere

Hereditary BC

87

87

(100)

0

(ND)

NA

NA

1.000

  

Unselected BC

646

644

(99.7)

2

(0.3)

1.2

0.2–8.5

1.000

  

All BC

733

731

(99.7)

2

(0.3)

1.0

0.1–7.4

1.000

  

Controls

767

765

(99.7)

2

(0.3)

   
 

Kuopio

Unselected BC

668

668

(100)

0

(ND)

NA

NA

NA

  

Controls

156

156

(100)

0

(ND)

   
 

Helsinki

Hereditary BC

1175

1171

(99.7)

4

(0.3)

2.2

0.4–11.9

0.436

  

Unselected BC

1727

1723

(99.8)

4d

(0.2)

1.5

0.3–8.1

1.000

  

All BC

2513

2506

(99.7)

7

(0.3)

1.8

0.4–8.6

0.727

  

Controls

1272

1270

(99.8)

2

(0.2)

   

RNF168

Oulu

Hereditary BC

247

243

(98.4)

4b

(1.6)

3.2

0.9–11.5

0.077

c.640_644del5

 

BRCA1/2 neg.

228

225

(98.7)

3

(1.3)

2.6

0.7–10.6

0.165

Lys214Terfs

 

Unselected BC

1194

1185

(99.2)

9

(0.8)

1.5

0.5–4.2

0.606

rs777601326

 

All BC

1441

1428

(99.1)

13b

(0.9)

1.8

0.7–4.7

0.257

  

Controls

1185

1179

(99.5)

6

(0.5)

   
 

Tampere

Hereditary BC

87

87

(100)

0

(ND)

NA

NA

0.576

  

Unselected BC

445

444

(99.8)

1

(0.2)

0.2

0.02–1.4

0.073

  

All BC

532

531

(99.8)

1

(0.2)

0.1

0.01–1.1

0.048

  

Controls

413

409

(99.0)

4

(1.0)

   
 

Kuopio

Unselected BC

652

635

(97.4)

17

(2.6)

0.6

0.3–1.2

0.157

  

Controls

288

275

(95.5)

13

(4.5)

   
 

Helsinki

Hereditary BC

1170

1163

(99.4)

7

(0.6)

0.7

0.3–1.8

0.486

  

Controls

1272

1261

(99.1)

11

(0.9)

   
  1. a p-value of χ2 test or Fisher’s exact test, bone BRCA1/2 carrier, cone homozygote, d416 of the hereditary patients belong also to the unselected cohort, includes one carrier. BC: breast cancer, BRCA1/2 neg: includes only the hereditary cases negative for pathogenic BRCA1/2 mutations, CI: confidence interval, Mut: mutation carrier, NA: not analyzed, ND: not detected, OR: odds ratio, WT: wild type.
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