Associated Genetic Biomarkers
NOTCH2 R2400* is present in 0.04% of AACR GENIE cases, with diffuse large B-cell lymphoma, not otherwise specified, breast invasive ductal carcinoma, mantle cell lymphoma, adenocarcinoma of unknown primary, and endometrial carcinoma having the greatest prevalence .
NOTCH2 R2400* serves as an inclusion eligibility criterion in 1 clinical trial, of which 1 is open and 0 are closed. Of the trial that contains NOTCH2 R2400* as an inclusion criterion, 1 is phase 2 (1 open).
Trials with NOTCH2 R2400* in the inclusion eligibility criteria most commonly target adenoid cystic carcinoma .
Al101 is the most frequent therapy in trials with NOTCH2 R2400* as an inclusion criteria .
Significance of NOTCH2 R2400* in Diseases
Adenoid Cystic Carcinoma +
NOTCH2 is altered in 1.28% of adenoid cystic carcinoma patients .
NOTCH2 R2400* 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 NOTCH2 R2400* 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.