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 | Â | Mixed populations | All studies | 0.33% (559/166,596) | 0.90% (861/94,076) | 2.77 (2.49 to 3.08)** |
 | 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)** | |
 | 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)** | |
 | D, USA, AUS, CDN | EOBC | 0.14% (14/9,846) | 0.46% (21/4,588) | 2.77 (1.23 to 6.26)** | |
 | 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) | Â | Mixed populations | All studies | 0.19% (82/42,266) | 0.66% (217/33,142) | 3.45 (2.67 to 4.46)** |
 | PL | EOBC | 0.19% (49/25,426) | 0.59% (91/15,338) | 3.10 (2.19 to 4.39)** | |
 | D, BY | HBC | 0.12% (3/2,586) | 0.26% (4/1,536) | 2.25 (0.5 to 10.08) (NS) | |
 | D, BY, PL | UBC | 0.20% (28/14,254) | 0.61% (113/18,604) | 3.12 (2.06 to 4.72)** | |
I157T | Â | Mixed populations | All studies | 2.14% (1,031/48,268) | 3.11% (1062/34,128) | 1.56 (1.43 to 1.70)** |
 | PL, USA, AUS, CDN | EOBC | 1.46% (270/18,432) | 1.99% (215/10,780) | 1.59 (1.32 to 1.91)** | |
 | D, BY, FIN, NL, USA | HBC | 1.77% (116/6,544) | 1.51% (47/3,118) | 0.89 (0.60 to 1.20) (NS) | |
 | 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)** |