Associated Genetic Biomarkers
NOTCH1 A1701P is present in 0.01% of AACR GENIE cases, with salivary gland adenoid cystic carcinoma, acute myeloid leukemia with minimal differentiation, breast invasive ductal carcinoma, and T-cell lymphoblastic leukemia/lymphoma having the greatest prevalence .
NOTCH1 A1701P serves as an inclusion eligibility criterion in 1 clinical trial, of which 1 is open and 0 are closed. Of the trial that contains NOTCH1 A1701P as an inclusion criterion, 1 is phase 2 (1 open).
Trials with NOTCH1 A1701P in the inclusion eligibility criteria most commonly target adenoid cystic carcinoma .
Al101 is the most frequent therapy in trials with NOTCH1 A1701P as an inclusion criteria .
Significance of NOTCH1 A1701P in Diseases
Adenoid Cystic Carcinoma +
NOTCH1 is altered in 17.89% of adenoid cystic carcinoma patients with NOTCH1 A1701P present in 0.53% of all adenoid cystic carcinoma patients .
NOTCH1 A1701P is an inclusion criterion in 1 clinical trial for adenoid cystic carcinoma, of which 1 is open and 0 are closed. Of the trial that contains NOTCH1 A1701P and adenoid cystic carcinoma as inclusion criteria, 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.