Table 1.
Cohort summary.
| DFCI | MDA | MSK | VICC | FMAD | WTSI | INSERMa | Total | ||
|---|---|---|---|---|---|---|---|---|---|
| N samples (SNVs/Indels)(metastasis/primary) | 540/948 | 20/6 | 1905/2105 | 186/135 | 1387/1107 | 38/20 | 192/896 | 4268/5217 | |
| N samples (CNAs) | 279/459 | NA | 1379/1211 | 139/106 | NA | 8/7 | NA | 1805/1783 | |
| Receptor status | HR/HER2 | NA | NA | 572/608 | NA | NA | 19/10 | 129/NA | 720/618 |
| HR/HER2 | NA | NA | 98/49 | NA | NA | 3/1 | 12b/NA | 113/50 | |
| HR/HER2 | NA | NA | 33/21 | NA | NA | 6/1 | 12b/NA | 51/22 | |
| Triple-negative | NA | NA | 75/85 | NA | NA | 8/7 | 44/NA | 127/92 | |
| NA | 540/948 | 20/6 | 1127/1342 | 186/135 | 1387/1107 | 2/1 | 7/896 | 3269/4435 | |
| Histology | Ductal | 172/659 | 0/0 | 925/1633 | 138/94 | 332/804 | 26/13 | NA/658 | 1593/3861 |
| Lobular | 32/110 | 1/0 | 210/256 | 7/13 | 49/81 | 2/0 | NA/148 | 301/608 | |
| Others | 336/179 | 19/6 | 770/216 | 41/28 | 1002/219 | 9/5 | NA/90 | 2177/743 | |
| NA | 0 | 0 | 0 | 0 | 4/3 | 1/2 | 192/0 | 197/5 | |
| Age (mean, years) | 57/54 | 56/47 | 50/55 | 56/54 | 54/52 | 52/56 | NA/59 | 54/55 | |
| Metastatic sitec | Local recurrence | 47 | 4 | 13 | 30 | 0 | 25 | 0 | 119 |
| Distant metastases | 0 | 16 | 765 | 34 | 1,382 | 13 | 118 | 2,328 | |
| NA | 493 | 0 | 0 | 122 | 5 | 0 | 74 | 694 | |
| Available data | SNVs/Indels | O | O | O | O | O | O | O | – |
| CNAs | O | X | O | O | X | O | X | – | |
| Primary cancer samples from | DFCI | MDA | MSK | VICC | FMAD | WTSI | TCGA | – | |
SNVs single-nucleotide variants, Indel insertion/deletion, CNAs copy number alterations, NA not available.
aMetastatic samples were from INSERM and primary samples were from TCGA.
bSamples with HER2 status of the INSERM cohort were annotated as “HER2 positive”; thus, these samples were included in both the HR+/HER2+ and HR–/HER2+ subgroups.
cSamples classified into local recurrence were annotated as “Local recurrence” in the DFCI, MDA, MSK, and VICC cohorts, and were annotated as “Ipsilateral breast/chest wall” or “Regional lymph nodes” and “SYNC_LOCAL_LYMPH_NODE_METASTASIS” in the WTSI cohort.