Table 1 Characteristics of study participants included in the analysis
Cases n = 4264 | Controls n = 4350 | |
|---|---|---|
Discovery samples, Whole-exome sequencing (Clinical Research Exome, Agilent) | n = 1043 | n = 1188 |
CCGCRN | 885 (85%) | N/A |
COH | N/A | 313 (26%) |
MEC | N/A | 875 (74%) |
UCSF | 52 (5%) | N/A |
USC | 106 (10%) | N/A |
Replication, targeted sequencing | n = 3221 | n = 3162 |
CAMA | 1123 (35%) | 1122 (36%) |
CPMCRI Cohort | 12 (0.4%) | 847 (27%) |
PATHWAYS | 412 (13%) | N/A |
MEC | 816 (25%) | 865 (27%) |
NC-BCFR | 696 (22%) | 54 (2%) |
SFBCS | 162 (5%) | 274 (9%) |
Unselected for Hereditary Riska (%) | 2993 (70%) | 3162 (73%) |
Age (mean (SD)) | 52.1 (13) | 55.9 (12) |
African ancestry (mean (SD)) | 0.05 (0.07) | 0.05 (0.05) |
Indigenous American ancestry (mean (SD)) | 0.40 (0.23) | 0.43 (0.22) |
European ancestry (mean (SD)) | 0.54 (0.22) | 0.52 (0.22) |
Family history of breast cancer in a first degree relative (%) | ||
Yes | 891 (21%) | 324 (7%) |
No | 3034 (71%) | 3162 (73%) |
Missing | 339 (8%) | 864 (20%) |
Estrogen receptor statusb (%) | ||
Positive | 2094 (49%) | N/A |
Negative | 713 (17%) | N/A |
Missing | 1457 (34%) | N/A |
Progesterone receptor status** (%) | ||
Positive | 1594 (37%) | N/A |
Negative | 940 (22%) | N/A |
Missing | 1730 (41%) | N/A |
Human epidermal growth factor receptor 2 status (%) | ||
Positive | 349 (8%) | N/A |
Negative | 1285 (30%) | N/A |
Missing | 2630 (62%) | N/A |
