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Table 4 Odds ratio for breast cancer among women with CHEK2 variants

From: CHEK2 contribution to hereditary breast cancer in non-BRCAfamilies

Variants

References

Geographic populations

Case populations

Mutation frequency in controls (n/total)

Mutation frequency in cases (n/total)

OR (95% (CI)

c.1100delC

 

Mixed populations

All studies

0.33% (559/166,596)

0.90% (861/94,076)

2.77 (2.49 to 3.08)**

 

[19, 22, 25, 45, 47, 50–59]

AJ, AUS, B, CDN, CZ, DK, E, FIN, G, IRL, KP, NL, S, UK, USA

UBC

0.31% (2,502/80,168)

0.80% (464/58,290)

2.56 (2.19 to 2.99)**

 

[3, 19, 22, 24, 25, 50, 54, 60–64]

B, CDN, CZ, D, FIN, NL, S, UK, USA

HBC

0.39% (111/28,402)

1.27% (215/17,000)

3.29 (2.61 to 4.14)**

 

[23, 54, 65]

D, USA, AUS, CDN

EOBC

0.14% (14/9,846)

0.46% (21/4,588)

2.77 (1.23 to 6.26)**

 

[18, 53, 60, 66, 67]

AJ, DK, G, FIN, NL, RUS, UK, USA

BBC

0.43% (130/29,936)

1.35% (142/10,496)

3.17 (2.49 to 4.03)**

c.444+1G > A

(IVS2+1G > A)

 

Mixed populations

All studies

0.19% (82/42,266)

0.66% (217/33,142)

3.45 (2.67 to 4.46)**

 

[68, 69]

PL

EOBC

0.19% (49/25,426)

0.59% (91/15,338)

3.10 (2.19 to 4.39)**

 

[24, 43]

D, BY

HBC

0.12% (3/2,586)

0.26% (4/1,536)

2.25 (0.5 to 10.08) (NS)

 

[43, 59, 70]

D, BY, PL

UBC

0.20% (28/14,254)

0.61% (113/18,604)

3.12 (2.06 to 4.72)**

I157T

 

Mixed populations

All studies

2.14% (1,031/48,268)

3.11% (1062/34,128)

1.56 (1.43 to 1.70)**

 

[22, 23, 65, 68]

PL, USA, AUS, CDN

EOBC

1.46% (270/18,432)

1.99% (215/10,780)

1.59 (1.32 to 1.91)**

 

[20, 22, 24, 43, 71]

D, BY, FIN, NL, USA

HBC

1.77% (116/6,544)

1.51% (47/3,118)

0.89 (0.60 to 1.20) (NS)

 

[20, 22, 25, 43, 44, 59, 70]

By, CZ, D, FIN, PL, USA

UBC

2.04% (644/31,600)

2.95% (807/27,346)

1.48 (1.33 to 1.65)**

Whole-gene studies

[22]

USA

UBC

0.57% (24/4,210)

0.50% (4/800)

0.88 (0.3 to 2.55) (NS)

 

[24]

D

HBC

0.50% (18/3,630)

3.00% (31/1,032)

6.38 (3.54 to 11.5)**

 

[25]

CZ

HBC

1.39% (19/1,366)

2.01% (27/1,346)

1.46 (0.80 to 2.65) (NS)

  

F

HBC

0.39% (4/1,026)

1.58% (16/1,014)

4.15 (1.38 to 12.50)**

 

[23]

USA, CDN, AUS

EOBC

1.84% (40/2,178)

4.91% (6/2,484)

2.76 (1.65 to 4.60)**

  1. BBC = bilateral breast cancer; EOBC = early-onset breast cancer; HBC = hereditary breast cancer not related to a BRCA mutation; UBC = unselected breast cancer; AJ = Ashkenazi Jewish; AUS = Australia; B = Belgium; BY = Belarus; CDN = Canada; CZ = Czech Republic; D = Germany; DK = Denmark; E = Spain; F = France; FIN = Finland; IRL = Ireland; KP = South Korea; NL = The Netherlands; PL = Poland; RUS = Russia; S = Sweden; UK = United Kingdom; USA = United States of America; NS = nonsignificant (P < 0.05); **P < 0.0001. Participant numbers may vary from original publications because of exclusion of study subgroups.