Table 2 Summary of OncoGEMINI truncal filtering of breast metastatic samples
Patient | Expected truncal mutations | OncoGEMINI truncal | |
|---|---|---|---|
Tool only | With filtersa | ||
ER1 | 3 | 1,158 | 27 |
CDH1 (indel) | CDH1 (indel) | CDH1 (indel) | |
PIK3CA (E545K) | PIK3CA (E545K) | PIK3CA (E545K) | |
PIK3CA (E726K) | PIK3CA (E726K) | PIK3CA (E726K) | |
ER2 | 3 | 1,582 | 50 |
AKT1 (E17K) | AKT1 (E17K) | AKT1 (E17K) | |
ARID1A (W1844X) | ARID1A (W1844X) | ARID1A (W1844X) | |
PAX6 (splice) | Â | Â | |
ER3 | 2 | 1,474 | 32 |
SPEN (K1838X) | Â | Â | |
TP53 (splice) | Â | Â | |
TN1 | 4 | 1,930 | 29 |
DIDO1 (R2008X) | DIDO1 (R2008X) | PIK3CA (H1047R) | |
ITPR1 (R170X) | PIK3CA (H1047R) | TP53 (T118fs) | |
PIK3CA (H1047R) | TP53 (T118fs) | Â | |
TP53 (T118fs) | Â | Â | |