Table 1.
Description of study populations included in the Colon Cancer Family Registry (CCFR) and the Genetics and Epidemiology of ColorectalCancer Consortium(GECCO).
| Study* | Total** | Sex | Controls | Cases | Cancer site | ||
|---|---|---|---|---|---|---|---|
| Females | Males | N=14662 | N=11898 | Colon (proximal / distal) | Rectum | ||
| ASTERISK | 1839 | 763 | 1076 | 947 | 892 | 622 (249 / 373) | 260 |
| CCFR Set 1 | 2016 | 1010 | 1006 | 978 | 1038 | 700 (317 / 375) | 448 |
| CCFR Set 2 | 717 | 389 | 328 | 386 | 331 | 237 (97 / 127) | 135 |
| Colo 2&3 | 211 | 94 | 117 | 124 | 87 | 59 (35 / 24) | 27 |
| DACHS Set 1 | 3409 | 1393 | 2016 | 1702 | 1707 | 1037 (548 / 487) | 668 |
| DACHS Set 2 | 1164 | 435 | 729 | 498 | 666 | 385 (210 / 175) | 281 |
| DALS Set 1 | 1411 | 612 | 799 | 709 | 702 | 702 (329 / 358) | 0 |
| DALS Set 2 | 863 | 410 | 453 | 461 | 402 | 410 (209 / 185) | 0 |
| HPFS Set 1 | 456 | 0 | 456 | 229 | 227 | 158 (82 / 76) | 48 |
| HPFS Set 2 | 348 | 0 | 348 | 172 | 176 | 111 (54 / 57) | 40 |
| HPFS_AD | 656 | 0 | 656 | 343 | 313 | n/a | n/a |
| MEC | 672 | 311 | 361 | 346 | 326 | 241 (155 / 86) | 81 |
| NHS Set 1 | 1165 | 1165 | 0 | 774 | 391 | 305 (175 / 123) | 82 |
| NHS Set 2 | 339 | 339 | 0 | 181 | 158 | 112 (67 / 44) | 35 |
| NHS_AD | 1090 | 1090 | 0 | 577 | 513 | n/a | n/a |
| OFCCR | 1116 | 579 | 537 | 522 | 594 | 396 (204 / 164) | 188 |
| PHS | 764 | 0 | 764 | 389 | 375 | 286 (122 / 121) | 84 |
| PLCO Set 1 | 2496 | 664 | 1832 | 1972 | 524 | 516 (323 / 193) | 5 |
| PLCO Set 2 | 889 | 379 | 510 | 414 | 475 | 320 (213 / 102) | 161 |
| PMH-CCFR | 398 | 398 | 0 | 122 | 276 | 206 (132 / 72) | 64 |
| VITAL | 566 | 267 | 299 | 287 | 279 | 215 (143 / 69) | 66 |
| WHI Set 1 | 1991 | 1991 | 0 | 1523 | 468 | 456 (308 / 147) | 14 |
| WHI Set 2 | 1984 | 1984 | 0 | 1006 | 978 | 704 (482 / 222) | 249 |
Numbers may not add up to 100% of available subjects because of missing information; n/a information not available
For the complete list and description of the studies, see Supplementary materials. ASTERISK, Colo2&3, DALS Set 2, DACHS Set 1, PMH-CCFR, MEC, PLCO Set 2, WHI Set 2 and VITAL were genotyped on the Illumina CytoSNP BeadChip. WHI Set 1 was genotyped using Illumina 550K, 550K duo, and 610K platforms (only 550K and 550K duo if not utilizing hip fracture controls). PLCO Set 1 was genotyped using Illumina 550K and 610K platforms (also the 550K Duo platform if using the PLCO rematch set). DALS Set 1 was genotyped using Illumina 610K and 550K platforms. OFCCR was genotyped using Affymetrix GeneChip Human mapping 100K and 500K Array Set and a 10K non-synonymous SNP chip. CCFR was genotyped using Illumina Human1M and Human1M-Duo platforms. DACHS Set 2, HPFS, NHS, and PHS were genotyped on the OmniExpress platform.
Sample sizes based on GECCO GIGSv3/HRCv1 data.