Associated Genetic Biomarkers
Zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2 (ZRSR2) is a gene that encodes for a member of the spliceosome, U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 2. The protein coded by this gene associates with 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).
ZRSR2 is altered in 0.87% of all cancers with lung adenocarcinoma, colon adenocarcinoma, prostate adenocarcinoma, myelodysplastic syndromes, and breast invasive ductal carcinoma having the greatest prevalence of alterations .
The most common alterations in ZRSR2 are ZRSR2 Mutation (0.70%), ZRSR2 Loss (0.17%), ZRSR2 Amplification (0.07%), ZRSR2 Frameshift (0.07%), and ZRSR2 Nonsense (0.07%) .
ZRSR2 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 ZRSR2 status as an inclusion criterion, 2 are phase 1 (2 open).
The most frequent alteration to serve as an inclusion eligibility criterion is ZRSR2 Mutation .
H3b-8800, busulfan, fludarabine, and venetoclax are the most frequent therapies in trials with ZRSR2 as an inclusion criteria .
Significance of ZRSR2 in Diseases
Myelodysplastic Syndromes +
ZRSR2 is mutated in 4.37% of myelodysplastic syndromes patients .
ZRSR2 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 ZRSR2 status and myelodysplastic syndromes as inclusion criteria, 2 are phase 1 (2 open) .
Acute Myeloid Leukemia +
ZRSR2 is mutated in 1.54% of acute myeloid leukemia patients .
ZRSR2 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 ZRSR2 status and acute myeloid leukemia as inclusion criteria, 2 are phase 1 (2 open) .
Chronic Myelomonocytic Leukemia +
ZRSR2 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 ZRSR2 status and chronic myelomonocytic leukemia as inclusion criteria, 2 are phase 1 (2 open) .
Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable +
ZRSR2 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 ZRSR2 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.