Table 1. Number of BRCA1 and BRCA2 mutation carriers by study.
Study | Country of residence | BRCA1 | BRCA2 | Genotyping platform |
---|---|---|---|---|
Spanish National Cancer Centrea,b | Spain and Greecea | 144 | 147 | Taqman |
Catalan Institute of Oncologyb | Spain | 144 | 177 | Taqman |
Hereditary Breast and Ovarian study Netherlands | The Netherlands | 791 | 308 | iPlex |
Epidemiological study of BRCA1 and BRCA2 mutation carriers | UK and Eire | 997 | 817 | iPlex |
Fox Chase Cancer Center | USA | 83 | 54 | iPlex |
Georgetown | USA | 43 | 35 | iPlex |
Helsinki Breast Cancer Study | Finland | 103 | 104 | iPlex |
Iceland Landspitali – University Hospital | Iceland | 0 | 133 | iPlex |
Kathleen Cuningham Consortium for Research into Familial Breast Cancer | Australia | 592 | 478 | iPlex |
Mayo Clinic | USA | 231 | 126 | iPlex |
Milan Breast Cancer Study Groupb | Italy | 413 | 252 | Taqman |
Pisa Breast Cancer Study | Italy | 86 | 56 | iPlex |
Swedish Breast Cancer Study | Sweden | 536 | 176 | iPlex |
University of Pennsylvania | USA | 317 | 153 | iPlex |
Totalc | 4480 | 3016 |
The Spanish National Cancer Centre series consisted of mutation carriers from the Spanish Consortium for the Study of Genetic Modifiers of BRCA1 and BRCA2 and the National Centre for Sensor Research Demokritos, Athens and Greece.
Series included in stage I of the study.
Mutation carriers that failed genotyping are not included in the totals.