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Ref Type Journal Article
PMID (21892162)
Authors Hahn CN, Chong CE, Carmichael CL, Wilkins EJ, Brautigan PJ, Li XC, Babic M, Lin M, Carmagnac A, Lee YK, Kok CH, Gagliardi L, Friend KL, Ekert PG, Butcher CM, Brown AL, Lewis ID, To LB, Timms AE, Storek J, Moore S, Altree M, Escher R, Bardy PG, Suthers GK, D'Andrea RJ, Horwitz MS, Scott HS
Title Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia.
Journal Nature genetics
Vol 43
Issue 10
Date 2011 Oct
Abstract Text We report the discovery of GATA2 as a new myelodysplastic syndrome (MDS)-acute myeloid leukemia (AML) predisposition gene. We found the same, previously unidentified heterozygous c.1061C>T (p.Thr354Met) missense mutation in the GATA2 transcription factor gene segregating with the multigenerational transmission of MDS-AML in three families and a GATA2 c.1063_1065delACA (p.Thr355del) mutation at an adjacent codon in a fourth MDS family. The resulting alterations reside within the second zinc finger of GATA2, which mediates DNA-binding and protein-protein interactions. We show differential effects of the mutations on the transactivation of target genes, cellular differentiation, apoptosis and global gene expression. Identification of such predisposing genes to familial forms of MDS and AML is critical for more effective diagnosis and prognosis, counseling, selection of related bone marrow transplant donors and development of therapies.


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Molecular Profile Treatment Approach
Gene Name Source Synonyms Protein Domains Gene Description Gene Role
Therapy Name Drugs Efficacy Evidence Clinical Trials
Drug Name Trade Name Synonyms Drug Classes Drug Description
Gene Variant Impact Protein Effect Variant Description Associated with drug Resistance
GATA2 L359V missense unknown GATA2 L359V lies within the GATA-type zinc finger domain 2 of the Gata2 protein ( L359V results in failure to inhibit colony formation in culture (PMID: 28642594), enhanced inhibition of the regulatory element, Spi1, altering monocytic differentiation (PMID: 18250304), differential regulation of gene expression (PMID: 21892162), and reduced transactivation activity in a reporter assay in one study (PMID: 26214525), however, in other studies demonstrates transactivation levels similar to wild-type or higher than wild-type (PMID: 28642594, PMID: 22649106, PMID: 21892162), and maintains inhibition of proliferation and apoptosis in cell culture (PMID: 21892162), and therefore, its effect on Gata2 protein function is unknown.
GATA2 T354M missense loss of function GATA2 T354M lies within the GATA-type zinc finger domain 2 of the Gata2 protein ( T354M results in reduced binding of Gata2 to DNA (PMID: 26214525), inhibition of cell differentiation and apoptosis (PMID: 21892162), and decreased transcriptional activation, leading to increased myeloid proliferation and colony formation in culture (PMID: 30301799).
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
GATA2 mutant acute myeloid leukemia not applicable N/A Clinical Study Prognostic In multiple clinical studies, GATA2 germline mutations were shown to be a risk factor for the development of acute myeloid leukemia following myelodysplastic syndrome (PMID: 21892162, PMID: 22271902, PMID: 22147895, PMID: 22533337). 22533337 22271902 22147895 21892162