Table 2. Description of affected and unaffected carriers selected for BRCA2 GWAS Stage 1 and 2.
Stage 1 | Stage 2 | |||||||
Affected (n = 1,156) | Unaffected (n = 1,038) | Affected (n = 1,524) | Unaffected (n = 1,508) | |||||
Factor | N | % | N | % | N | % | N | % |
Age at Censoring | ||||||||
<40 | 763 | 66.7 | 11 | 1.1 | 368 | 23.7 | 1007 | 66.0 |
40–44 | 308 | 26.9 | 230 | 22.2 | 225 | 14.5 | 119 | 7.8 |
45–49 | 72 | 6.3 | 232 | 22.4 | 334 | 21.5 | 131 | 8.6 |
50–54 | 1 | 0.1 | 176 | 17.0 | 286 | 18.4 | 90 | 5.9 |
55–59 | 0 | 0.0 | 138 | 13.3 | 164 | 10.5 | 73 | 4.8 |
60+ | 0 | 0.0 | 248 | 24.0 | 178 | 11.4 | 105 | 6.9 |
Self-reported Ethnicity | ||||||||
Unknown | 125 | 10.9 | 80 | 7.7 | 329 | 21.2 | 293 | 19.2 |
Caucasian | 873 | 76.3 | 723 | 69.9 | 1037 | 66.7 | 1036 | 67.9 |
Ashkenazi Jewish | 146 | 12.8 | 232 | 22.4 | 189 | 12.2 | 196 | 12.9 |
DelT Mutation | ||||||||
Carrier | 161 | 14.1 | 271 | 26.2 | 233 | 15.0 | 239 | 15.7 |
Non-carrier | 983 | 85.9 | 764 | 73.8 | 1322 | 85.0 | 1286 | 84.3 |
Country of Study | ||||||||
Australia | 109 | 9.5 | 82 | 7.9 | 149 | 9.6 | 180 | 11.8 |
Canada | 98 | 8.6 | 172 | 16.6 | 55 | 3.5 | 82 | 5.4 |
Denmark | 0 | 0.0 | 0 | 0.0 | 43 | 2.8 | 32 | 2.1 |
France | 52 | 4.5 | 25 | 2.4 | 172 | 11.1 | 50 | 3.3 |
Finland | 27 | 2.4 | 27 | 2.6 | 32 | 2.1 | 27 | 1.8 |
Germany | 68 | 5.9 | 31 | 3.0 | 116 | 7.5 | 54 | 3.5 |
Iceland | 25 | 2.2 | 9 | 0.9 | 81 | 5.2 | 6 | 0.4 |
Israel | 49 | 4.3 | 87 | 8.4 | 77 | 5.0 | 86 | 5.6 |
Italy | 110 | 9.6 | 44 | 4.3 | 98 | 6.3 | 62 | 4.1 |
Spain | 107 | 9.4 | 71 | 6.9 | 99 | 6.4 | 136 | 8.9 |
Sweden | 13 | 1.1 | 13 | 1.3 | 11 | 0.7 | 15 | 1.0 |
The Netherlands | 15 | 1.3 | 26 | 2.5 | 117 | 7.5 | 201 | 13.2 |
United Kingdom | 181 | 15.8 | 179 | 17.3 | 125 | 8.0 | 168 | 11.0 |
USA | 290 | 25.4 | 290 | 28.0 | 380 | 24.3 | 426 | 27.9 |
Study | ||||||||
BCFR-Australia | 19 | 1.7 | 5 | 0.5 | 12 | 0.8 | 10 | 0.7 |
BCFR-NCCC | 12 | 1.0 | 1 | 0.1 | 5 | 0.3 | 2 | 0.1 |
BCFR-Ontario | 29 | 2.5 | 28 | 2.7 | 16 | 1.0 | 17 | 1.1 |
BCFR-UT | 18 | 1.6 | 18 | 1.7 | 11 | 0.7 | 47 | 3.1 |
BCFR-FCCC | 2 | 0.2 | 1 | 0.1 | 14 | 0.9 | 10 | 0.7 |
BCFR-NY | 4 | 0.3 | 5 | 0.5 | 26 | 1.7 | 16 | 1.0 |
BIDMC | 10 | 0.9 | 20 | 1.9 | 7 | 0.5 | 12 | 0.8 |
CBCS | 0 | 0.0 | 0 | 0.0 | 43 | 2.8 | 32 | 2.1 |
CGB_NCI | 7 | 0.6 | 15 | 1.4 | 14 | 0.9 | 43 | 2.8 |
CNIO | 49 | 4.3 | 33 | 3.2 | 40 | 2.5 | 56 | 3.7 |
COH | 30 | 2.6 | 13 | 1.3 | 21 | 1.4 | 16 | 1.0 |
DFCI | 14 | 1.2 | 22 | 2.1 | 10 | 0.6 | 24 | 1.6 |
DKFZ | 7 | 0.6 | 5 | 0.5 | 8 | 0.5 | 7 | 0.5 |
EMBRACE | 178 | 15.6 | 173 | 16.7 | 123 | 7.9 | 161 | 10.6 |
FCCC | 14 | 1.2 | 10 | 1.0 | 12 | 0.8 | 9 | 0.6 |
GC-HBOC | 61 | 5.3 | 26 | 2.5 | 108 | 6.9 | 47 | 3.1 |
GEMO | 52 | 4.5 | 25 | 2.4 | 172 | 11.0 | 50 | 3.3 |
GOG | 64 | 5.6 | 51 | 4.9 | 57 | 3.7 | 91 | 6.0 |
HCSC | 27 | 2.4 | 20 | 1.9 | 34 | 2.2 | 35 | 2.3 |
HEBON | 10 | 0.9 | 17 | 1.6 | 103 | 6.6 | 172 | 11.3 |
HEBCS | 27 | 2.4 | 27 | 2.6 | 32 | 2.1 | 27 | 1.8 |
ICO | 31 | 2.7 | 18 | 1.7 | 25 | 1.6 | 45 | 3.0 |
ILUH | 26 | 2.3 | 9 | 0.9 | 81 | 5.2 | 6 | 0.4 |
IOVHBOCS | 19 | 1.7 | 7 | 0.7 | 44 | 2.8 | 20 | 1.3 |
kConFab | 88 | 7.6 | 77 | 7.3 | 137 | 8.7 | 168 | 11.0 |
LUMC | 5 | 0.4 | 9 | 0.9 | 14 | 0.9 | 29 | 1.9 |
MAGIC-UC | 2 | 0.2 | 2 | 0.2 | 0 | 0.0 | 3 | 0.2 |
MAGIC-UCI | 6 | 0.5 | 9 | 0.9 | 21 | 1.4 | 22 | 1.4 |
MAYO | 5 | 0.4 | 14 | 1.4 | 51 | 3.3 | 24 | 1.6 |
MBCSG | 91 | 8.0 | 37 | 3.6 | 54 | 3.5 | 42 | 2.8 |
MSKCC | 51 | 4.5 | 61 | 5.9 | 52 | 3.3 | 47 | 3.1 |
NICC | 28 | 2.4 | 60 | 5.8 | 46 | 3.0 | 67 | 4.4 |
OCGN | 62 | 5.4 | 60 | 5.8 | 35 | 2.2 | 36 | 2.4 |
OSU CCG | 11 | 1.0 | 8 | 0.8 | 9 | 0.6 | 8 | 0.5 |
SMC | 21 | 1.8 | 27 | 2.6 | 31 | 2.0 | 19 | 1.2 |
SWE-BRCA | 13 | 1.1 | 13 | 1.3 | 11 | 0.7 | 15 | 1.0 |
UCSF | 10 | 0.9 | 6 | 0.6 | 12 | 0.8 | 8 | 0.5 |
UKGRFOCR | 2 | 0.2 | 6 | 0.6 | 2 | 0.1 | 7 | 0.5 |
UPENN | 33 | 2.9 | 13 | 1.3 | 58 | 3.7 | 46 | 3.0 |
WCRI | 6 | 0.5 | 84 | 8.1 | 4 | 0.3 | 29 | 1.9 |