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Table 3 Cumulative breast cancer risk ratios to age 50 and to age 70 by genotype among 2430 first degree female relatives of breast cancer cases (probands), 190 of whom were reported to have breast cancer

From: Kin-cohort estimates for familial breast cancer risk in relation to variants in DNA base excision repair, BRCA1 interacting and growth factor genes

 

Rare allele frequency

To age 50

To age 70

Polymorphism*

 

N**

RR

95% CI

p-value

N**

RR

95% CI

p-value

Base excision repair genes

         

XRCC1 R194W

0.06

        

   RR

 

51

1.0

---

 

125

1.0

---

 

   RW or WW

 

6

1.4

0.4–4.2

0.408

22

2.3

1.3–3.8

0.004

XRCC1 R280H

0.03

        

   RR

 

52

1.0

---

 

134

1.0

---

 

   RH or HH

 

5

0.7

0.0–2.4

0.736

13

1.2

0.5–2.5

0.522

XRCC1 R399Q

0.37

        

   RR

 

21

1.0

---

 

59

1.0

---

 

   RQ

 

22

0.7

0.1–2.0

0.444

64

1.1

0.4–1.6

0.636

   QQ

 

14

3.4

1.3–9.3

0.014

24

1.9

1.1–3.9

0.010

APEX Q51H

0.04

        

   QQ

 

49

1.0

---

 

134

1.0

---

 

   QH or HH

 

7

3.0

0.5–6.7

0.216

12

1.7

0.7–3.1

0.236

APEX D148E

0.49

        

   DD

 

20

1.0

---

 

49

1.0

---

 

   DE

 

27

0.2

0.1–0.8

0.028

65

0.2

0.1–0.5

<0.001

   EE

 

9

0.8

0.2–1.9

0.546

32

1.0

0.6–1.7

0.860

POLD1 R119H

0.06

        

   RR

 

44

1.0

---

 

123

1.0

---

 

   RH or HH

 

13

2.5

0.8–5.0

0.106

24

1.8

1.0–2.9

0.058

BRCA1 interacting proteins

         

BRCA2 N289H

0.03

        

   MM

 

57

1.0

---

 

141

1.0

---

 

   NH or HH

 

0

0

---

----

6

1.6

0.5–2.9

0.370

BRCA2 N372H

0.32

        

   NN

 

30

1.0

---

 

89

1.0

---

 

   NH

 

23

0.4

0.1–1.3

0.140

42

0.2

0.1–0.5

<0.001

   HH

 

4

1.5

0.4–4.4

0.322

16

1.3

0.8–2.4

0.232

BRCA2 T1915M

0.05

        

   TT

 

53

1.0

---

 

139

1.0

---

 

   TM or MM

 

4

1.7

0.0–4.0

0.664

8

2.1

0.6–3.6

0.215

BRIP1 -64 G>A

0.46

        

   GG

 

17

1.0

---

 

42

1.0

---

 

   GA

 

24

0.4

0.1–1.2

0.126

70

0.7

0.2–1.2

0.112

   AA

 

16

1.5

0.5–4.3

0.424

35

1.6

0.8–2.8

0.218

BRIP1 P919S

0.43

        

   PP

 

10

1.0

---

 

52

1.0

---

 

   PS

 

34

4.5

0.8–12.2

0.096

69

0.6

0.3–1.2

0.134

   SS

 

12

6.9

1.6–29.3

0.018

25

1.3

0.8–2.8

0.220

ZBRK1 L66P

0.15

        

   LL

 

43

1.0

---

 

108

1.0

---

 

   LP or PP

 

14

0.9

0.3–2.0

0.712

38

1.2

0.7–1.9

0.304

ZBRK1 S472P

0.12

        

   SS

 

55

1.0

---

 

137

1.0

---

 

   SP or PP

 

2

0.8

0.0–2.2

0.614

10

1.6

0.6–2.9

0.312

ZBRK1 R501S

0.12

        

   RR

 

46

1.0

---

 

116

1.0

---

 

   RS or SS

 

11

0.8

0.2–1.8

0.534

31

1.2

0.7–2.1

0.434

ZBRK1 1845 C>T

0.06

        

   CC

 

45

1.0

---

 

121

1.0

---

 

   CT or TT

 

12

2.2

0.5–4.3

0.218

25

1.6

0.8–2.8

0.162

Growth factor genes

         

TGFß1 L10P

0.38

        

   LL

 

25

1.0

---

 

54

1.0

---

 

   LP or PP

 

31

0.5

0.2–1.2

0.148

92

0.8

0.5–1.5

0.536

TGFß1 P25R

0.10

        

   PP

 

48

1.0

---

 

126

1.0

---

 

   PR or RR

 

8

1.0

0.1–3.1

0.952

20

1.2

0.6–2.1

0.554

TGFß1 T263I

0.04

        

   TT

 

54

1.0

---

 

138

1.0

---

 

   TI or II

 

3

2.1

0.0–4.9

0.492

9

1.7

0.6–3.1

0.312

IGFBP3 -202 A>C

0.53***

        

   AA

 

11

1.0

---

 

36

1.0

---

 

   AC or CC

 

45

1.0

0.3–3.5

0.848

110

0.7

0.4–1.3

0.228

  1. * Amino acids and their symbols: R: Arginine, W: Tryptophan, H: Histidine, Q: Glutamine, D: Aspartic Acid, E: Glutamic Acid, N: Asparagine, P: Proline, S: Serine, L: Leucine, I: Isoleucine, T: Threonine. ** Numbers represent those first degree female relatives who had breast cancer up to age 50 or 70 by the genotype of the case (index proband). The numbers are not the probabilistic assignment of the kin-cohort calculation to a specific genotype. *** Represents the frequency of the C allele, although not technically "rare".