Table 1. Cancer xenografts and associated gain-of-function mutations in NOTCH1.
| Cell Line | Tumor Type | NOTCH1 Mutation | Effect on NOTCH1 Signaling | Reference |
|---|---|---|---|---|
| KOPT-K1 | T-LL | L1600P/del(P)* | Gain | [3] |
| REC-1 | MCL | del(ECN1)/del(P)* | Gain | this paper/ [7] |
| MAVER-1 | MCL | None | N.A. | [7] |
| HCC1599 | Breast Carcinoma | del(ECN1) | Gain | [10] |
| MB-157 | Breast Carcinoma | del(ECN1) | Gain | Unpublished data |
| HCC1587 | Breast Carcinoma | None | N.A. | [10] |
* X/Y indicates paired mutations created by aberrations in cis in the same NOTCH1 allele
del(ECN1) indicates the present of a deletion that removes the coding sequence for the extracellular domain of NOTCH1
del(P) indicates the presence of frameshift or stop codon mutations that remove the C-terminal NOTCH1 PEST degron domain
T-LL, T lymphoblastic leukemia/ lymphoma; MCL, mantle cell lymphoma;
N.A., not applicable