Associated Genetic Biomarkers
EP300 Q2241H is present in 0.06% of AACR GENIE cases, with adenocarcinoma of unknown primary, colon adenocarcinoma, myelodysplastic syndromes, pancreatic adenocarcinoma, and synovial sarcoma having the greatest prevalence .
2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.
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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.