Associated Genetic Biomarkers
GATA binding protein 1 (GATA1) is a gene that encodes a transcription factor protein that is a member of the GATA family. The protein functions in regulating the change in fetal hemoglobin to adult hemoglobin. Missense mutations, nonsense mutations, silent mutations, frameshift insertions and deletions, and in-frame insertions and deletions are observed in cancers such as endometrial cancer, hematopoietic and lymphoid cancers, and intestinal cancer
GATA1 is altered in 1.05% of all cancers with lung adenocarcinoma, high grade ovarian serous adenocarcinoma, colon adenocarcinoma, breast invasive ductal carcinoma, and endometrial endometrioid adenocarcinoma having the greatest prevalence of alterations .
The most common alterations in GATA1 are GATA1 Mutation (0.60%), GATA1 Loss (0.35%), GATA1 Exon 3 Mutation (0.21%), GATA1 Amplification (0.19%), and GATA1 Exon 2 Mutation (0.10%) .
GATA1 status serves as an inclusion eligibility criteria in 1 clinical trial, of which 1 is open and 0 are closed. Of the trial that contains GATA1 status as an inclusion criterion, 1 is phase 2 (1 open).
Trials with GATA1 status in the inclusion eligibility criteria most commonly target acute myeloid leukemia, myelodysplastic syndrome with excess blasts-2, and myeloid neoplasm .
The most frequent alterations to serve as inclusion eligibility criteria are GATA1 Exon 2 Mutation and GATA1 Exon 3 Mutation .
Allogeneic hematopoietic stem cell transplantation and liposome-encapsulated daunorubicin-cytarabine are the most frequent therapies in trials with GATA1 as an inclusion criteria .
Significance of GATA1 in Diseases
Myeloid Neoplasm +
Acute Myeloid Leukemia +
Myelodysplastic Syndrome With Excess Blasts-2 +
GATA1 is an inclusion criterion in 1 clinical trial for myelodysplastic syndrome with excess blasts-2, of which 1 is open and 0 are closed. Of the trial that contains GATA1 status and myelodysplastic syndrome with excess blasts-2 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. 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.