Associated Genetic Biomarkers
NOTCH1 I1680N is present in 0.02% of AACR GENIE cases, with breast invasive ductal carcinoma, mature T-cell and NK-cell neoplasm, sinonasal adenocarcinoma, and T-cell lymphoblastic leukemia/lymphoma having the greatest prevalence .
NOTCH1 I1680N serves as an inclusion eligibility criterion in 2 clinical trials, of which 2 are open and 0 are closed. Of the trials that contain NOTCH1 I1680N as an inclusion criterion, 1 is phase 1 (1 open) and 1 is phase 2 (1 open).
Trials with NOTCH1 I1680N in the inclusion eligibility criteria most commonly target adenoid cystic carcinoma .
Al101 and surgery are the most frequent therapies in trials with NOTCH1 I1680N as an inclusion criteria .
Significance of NOTCH1 I1680N in Diseases
Adenoid Cystic Carcinoma +
NOTCH1 is altered in 17.89% of adenoid cystic carcinoma patients .
NOTCH1 I1680N is an inclusion criterion in 2 clinical trials for adenoid cystic carcinoma, of which 2 are open and 0 are closed. Of the trials that contain NOTCH1 I1680N and adenoid cystic carcinoma as inclusion criteria, 1 is phase 1 (1 open) and 1 is phase 2 (1 open) .
2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.
3. Liu X, Wu C, Li C, and Boerwinkle E. dbNSFP v3.0: A one-stop database of functional predictions and annotations for human nonsynonymous and splice site SNVs. Human Mutation. 2015;37:235-241.
Liu X, Jian X, and Boerwinkle E. dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions. Human Mutation. 2011;32:894-899.
4. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.