Missing content? – Request curation!
Request curation for specific Genes, variants, or PubMed publications.
Have questions, comments or suggestions? - Let us know!
Email us at : email@example.com
|Gene Variant Descriptions||NOTCH1 V1721G lies within the negative regulatory region of the Notch1 protein (PMID: 23072667). V1721G has been identified in the scientific literature (PMID: 27870570), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Mar 2020).|
|Associated Drug Resistance|
|Transcript||gDNA||cDNA||Protein||Source Database||Genome Build|
|Molecular Profile||Indication/Tumor Type||Response Type||Therapy Name||Approval Status||Evidence Type||Efficacy Evidence||References|
|FBXW7 W606* NOTCH1 L1600Q NOTCH1 V1721G NOTCH1 S2467fs||adenoid cystic carcinoma||predicted - resistant||Brontictuzumab||Case Reports/Case Series||Actionable||In a clinical case study, FBXW7 W606* and NOTCH1 V1721G were identified at disease progression in a patient with metastatic adenoid cystic carcinoma harboring co-occurring NOTCH1 L1600Q and S2467fs who was treated with Brontictuzumab (OMP-52M51) (PMID: 27870570).||27870570|
|FBXW7 W606* NOTCH1 L1600Q NOTCH1 V1721G NOTCH1 S2467fs||adenoid cystic carcinoma||no benefit||Sunitinib||Case Reports/Case Series||Actionable||In a clinical case study, Sutent (sunitinib) treatment resulted in rapid disease progression in a patient with metastatic adenoid cystic carcinoma harboring co-occurring NOTCH1 L1600Q and S2467fs, and acquired FBXW7 W606* and NOTCH1 V1721G (PMID: 27870570).||27870570|
|Molecular Profile||Protein Effect||Treatment Approaches|
|FBXW7 W606* NOTCH1 L1600Q NOTCH1 V1721G NOTCH1 S2467fs|