Associated Genetic Biomarkers
U2 small nuclear RNA auxiliary factor 1 (U2AF1) is a gene that encodes for a member of the spliceosome, splicing factor U2AF 35 kDa subunit. This protein is part of the U2 auxiliary factor, which plays an important role in RNA splicing (Gene 2014). Spliceosome mutations are observed in MDS, chronic lymphocytic leukemia (CLL), AML, and chronic myelomonocytic leukemia (CMML), and these mutations can cause abnormal expression patterns of some genes involved in cancer pathogenesis (PMID: 23327988).
U2AF1 is altered in 1.11% of all cancers with lung adenocarcinoma, acute myeloid leukemia, myelodysplastic syndromes, colon adenocarcinoma, and endometrial endometrioid adenocarcinoma having the greatest prevalence of alterations .
The most common alterations in U2AF1 are U2AF1 Mutation (1.19%), U2AF1 Codon 34 Missense (0.55%), U2AF1 S34F (0.51%), U2AF1 Codon 157 Missense (0.16%), and U2AF1 Q157P (0.12%) .
U2AF1 status serves as an inclusion eligibility criteria in 2 clinical trials, of which 2 are open and 0 are closed. Of the trials that contain U2AF1 status as an inclusion criterion, 2 are phase 1 (2 open).
The most frequent alteration to serve as an inclusion eligibility criterion is U2AF1 Mutation .
H3b-8800, busulfan, fludarabine, and venetoclax are the most frequent therapies in trials with U2AF1 as an inclusion criteria .
Significance of U2AF1 in Diseases
Myelodysplastic Syndromes +
U2AF1 is mutated in 8.73% of myelodysplastic syndromes patients .
U2AF1 is an inclusion criterion in 2 clinical trials for myelodysplastic syndromes, of which 2 are open and 0 are closed. Of the trials that contain U2AF1 status and myelodysplastic syndromes as inclusion criteria, 2 are phase 1 (2 open) .
Chronic Myelomonocytic Leukemia +
U2AF1 is mutated in 6.67% of chronic myelomonocytic leukemia patients .
U2AF1 is an inclusion criterion in 2 clinical trials for chronic myelomonocytic leukemia, of which 2 are open and 0 are closed. Of the trials that contain U2AF1 status and chronic myelomonocytic leukemia as inclusion criteria, 2 are phase 1 (2 open) .
Acute Myeloid Leukemia +
U2AF1 is mutated in 4.63% of acute myeloid leukemia patients .
U2AF1 is an inclusion criterion in 2 clinical trials for acute myeloid leukemia, of which 2 are open and 0 are closed. Of the trials that contain U2AF1 status and acute myeloid leukemia as inclusion criteria, 2 are phase 1 (2 open) .
Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable +
U2AF1 is an inclusion criterion in 1 clinical trial for myelodysplastic/myeloproliferative neoplasm, unclassifiable, of which 1 is open and 0 are closed. Of the trial that contains U2AF1 status and myelodysplastic/myeloproliferative neoplasm, unclassifiable as inclusion criteria, 1 is phase 1 (1 open) .
2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.
3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 6. This dataset does not represent the totality of the genetic landscape; see paper for more information.