Table 1.
Participating studies, number of subjects and genotyping methods used
| Study acronym | Study name (reference) | Country | Controls (n) | Cases (n) | ER | PR | HER2 | Genotyping method* |
|---|---|---|---|---|---|---|---|---|
| Women of European origin (previously published series)1 | ||||||||
| ABCFS | Australian Breast Cancer Family Study | Australia | 368 | 540 | 473 (67) | 474 (70) | 0 | iPLEX |
| BBCS | British Breast Cancer Study | UK | 2635 | 580 | 0 | 0 | 0 | Sentrix |
| GENICA | Gene Environment Interaction and Breast Cancer in Germany | Germany | 995 | 983 | 934 (78) | 932 (70) | 604 (27) | TaqMan |
| GFBCS | German Familial Breast Cancer Study | Germany | 1115 | 1083 | 0 | 0 | 0 | TaqMan |
| kConFab/AOCS | Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer/Australian Ovarian Cancer Study | Australia | 714 | 271 | 119 (71) | 100 (73) | 0 | iPLEX |
| MARIE | Mammary Carcinoma Risk Factor Investigation | Germany | 3187 | 1608 | 1646 (76) | 1644 (64) | 1472 (20) | TaqMan |
| SEARCH | Study of Epidemiology and Risk Factors in Cancer Heredity | UK | 4510 | 4246 | 3056 (79) | 2250 (67) | 1538 (11) | TaqMan |
| Women of European origin (replication series) | ||||||||
| BBCC | Bavarian Breast Cancer Cases and Controls2 | Germany | 965 | 1251 | 995 (73) | 992 (65) | 880 (16) | TaqMan |
| CGPS | Copenhagen General Population Study3 | Denmark | 6541 | 1931 | 1711 (82) | 1149 (58) | 0 | TaqMan |
| CNIO-BCS | Spanish National Cancer Centre Breast Cancer Study4 | Spain | 807 | 696 | 240 (75) | 254 (57) | 145 (26) | TaqMan |
| GESBC | Genetic Epidemiology Study of Breast Cancer by Age 505 | Germany | 560 | 511 | 431 (60) | 423 (57) | 0 | TaqMan |
| HEBCS | Helsinki Breast Cancer Study6 | Finland | 1273 | 2233 | 2216 (81) | 2215 (65) | 1304 (16) | iPLEX |
| KARBAC | Karolinska Breast Cancer Study7 | Sweden | 855 | 796 | 433 (83) | 365 (76) | 0 | TaqMan |
| KBCP | Kuopio Breast Cancer Project8 | Finland | 404 | 467 | 440 (76) | 438 (62) | 398 (13) | TaqMan |
| MCBCS | Mayo Clinic Breast Cancer Study9 | USA | 1152 | 1045 | 1079 (83) | 1074 (73) | 735 (20) | TaqMan |
| MCCS | Melbourne Collaborative Cohort Study10 | Australia | 760 | 663 | 605 (73) | 606 (57) | 396 (12) | TaqMan |
| ORIGO | Leiden University Medical Centre Breast Cancer Study11 | Netherlands | 1419 | 552 | 403 (76) | 355 (59) | 0 | TaqMan |
| PBCS | NCI Polish Breast Cancer Study12 | Poland | 2323 | 1941 | 1808 (65) | 1802 (52) | 1268 (11) | TaqMan |
| SASBAC | Singapore and Sweden Breast Cancer Study13 | Sweden | 1458 | 1217 | 833 (82) | 812 (74) | 0 | iPLEX |
| SBCS | Sheffield Breast Cancer Study14 | UK | 822 | 727 | 505 (78) | 185 (57) | 196 (9) | TaqMan |
| UCIBCS | UCI Breast Cancer Study15 | USA | 513 | 813 | 686 (80) | 677 (70) | 0 | TaqMan |
| Total (white Europeans) | 33 376 | 24 154 | 18 613 (77) | 16 747 (64) | 8936 (16) | |||
| Studies of Asian women (replication series) | ||||||||
| SEBCS | Seoul Breast Cancer Study16 | South Korea | 1114 | 1689 | 0 | 0 | 0 | TaqMan |
| TWBCS | Taiwanese Breast Cancer Study17 | Taiwan | 1078 | 906 | 779 (63) | 779 (56) | 347 (33) | TaqMan |
| Total (Asians) | 2192 | 2595 | 779 (63) | 779 (56) | 347 (33) | |||
TaqMan, nuclease assay (TaqMan®), with reagents designed by Applied Biosystems (http://www.appliedbiosystems.com/) as Assays-by-DesignSM and genotyping performed using the ABI PRISM 7900HT, 7700 or 7500 Sequence Detection Systems according to manufacturer’s instructions; Sentrix, customised Illumina Sentrix Bead Arrays (Illumina, San Diego, California, USA); iPLEX, matrix-assisted laser desorption/ionization time of flight mass spectrometry for the determination of allele-specific primer extension products using Sequenom’s MassARRAY system and iPLEX technology (Sequenom, San Diego, California, USA), with oligonucleotide design carried out according to the guidelines of Sequenom and performed using MassARRAY Assay Design software (V.3.1).
ER, oestrogen receptor; HER2, human epidermal growth factor receptor 2; PR, progesterone receptor.
ER, number of cases with known ER status (percentage positive in parentheses); PR, number of cases with known PR status (percentage positive in parentheses); HER2, number of cases with known HER2 status (percentage positive in parentheses).