Changes

==Primary Author(s)*==

==Primary Author(s)*==

Kay Weng Choy MBBS

Kay Weng Choy, MBBS, Monash Medical Centre

__TOC__

__TOC__

chr3:128,479,422-128,493,187 (GRCh38/hg38)

chr3:128,479,422-128,493,187 (GRCh38/hg38)

chr3:128,198,265-128,212,030 (GRCh37/hg19)

chr3:128,198,265-128,212,030 (GRCh37/hg19)

==Cancer Category/Type==

==Cancer Category/Type==

Myelodysplastic syndrome (MDS)/acute myeloid leukemia (AML), chronic myeloid leukemia (CML)

 

 

 

Myelodysplastic syndrome (MDS)/acute myeloid leukemia (AML)

 

 

Chronic myeloid leukemia (CML)

 

 

Non-small cell lung cancer (NSCLC)

Non-small cell lung cancer (NSCLC)

According to the Catalogue of Somatic Mutations in Cancer (COSMIC), c.490G>A (NM_032638.4) (p.Ala164Thr) and c.15C>G (NM_032638.4) (p.Pro5Pro) have been observed in 49 and 96 cases, respectively, predominantly in the setting of acute myeloid leukemia (https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=GATA2, Accessed 1st August 2018)

According to the Catalogue of Somatic Mutations in Cancer (COSMIC), c.490G>A (NM_032638.4) (p.Ala164Thr) and c.15C>G (NM_032638.4) (p.Pro5Pro) have been observed in 49 and 96 cases, respectively, predominantly in the setting of acute myeloid leukemia (https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=GATA2, Accessed 1st August 2018)

{| class="wikitable sortable"

==Internal Pages==

Acute Myeloid Leukemia (AML) with inv(3)(q21.3q26.2) or t(3;3)(q21.3;q26.2);GATA2, MECOM

'''[[HAEM4:Myeloid Neoplasms with Germline GATA2 Mutation]]'''

==External Links==

==External Links==

Put your text here - Include as applicable links to: 1) Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2) COSMIC, 3) CIViC, 4) St. Jude ProteinPaint, 5) Precision Medicine Knnowledgebase (Weill Cornell), 6) Cancer Index, 7) OncoKB, 8) My Cancer Genome, 9) UniProt, 10) Pfam, 11) GeneCards, 12) GeneReviews, and 13) Any gene-specific databases.

'''[http://atlasgeneticsoncology.org/Genes/GATA2ID44160ch3q21.html ''GATA2'' by Atlas of Genetics and Cytogenetics in Oncology and Haematology]''' - detailed gene information

'''[http://atlasgeneticsoncology.org/Genes/P53ID88.html ''TP53'' by Atlas of Genetics and Cytogenetics in Oncology and Haematology]''' - detailed gene information

'''[https://civicdb.org/events/genes/25/summary/variants/57/summary ''GATA2'' by CIViC]''' - general knowledge and evidence-based variant specific information

'''[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=TP53 ''TP53'' by COSMIC]''' - sequence information, expression, catalogue of mutations

'''[https://pecan.stjude.cloud/proteinpaint/gata2 ''GATA2'' by St. Jude ProteinPaint]''' mutational landscape and matched expression data.

'''[https://civicdb.org/events/genes/45/summary/variants/1300/summary ''TP53'' by CIViC]''' - general knowledge and evidence-based variant specific information

'''[https://pmkb.weill.cornell.edu/search?utf8=%E2%9C%93&search=gata2 ''GATA2'' by Precision Medicine Knowledgebase (Weill Cornell)]''' - manually vetted interpretations of variants and CNVs

'''[http://p53.iarc.fr/ ''TP53'' by IARC]''' - ''TP53'' database with reference sequences and mutational landscape

'''[http://www.cancerindex.org/geneweb/GATA2.htm ''GATA2'' by Cancer Index]''' - gene, pathway, publication information matched to cancer type

'''[https://pecan.stjude.cloud/proteinpaint/tp53 ''TP53'' by St. Jude ProteinPaint]''' mutational landscape and matched expression data.

'''[http://oncokb.org/#/gene/gata2 ''GATA2'' by OncoKB]''' - mutational landscape, mutation effect, variant classification

'''[https://pmkb.weill.cornell.edu/search?utf8=%E2%9C%93&search=tp53 ''TP53'' by Precision Medicine Knowledgebase (Weill Cornell)]''' - manually vetted interpretations of variants and CNVs

'''[https://www.ncbi.nlm.nih.gov/gene/2624 ''GATA2'' by NCBI Gene]''' - brief gene overview

'''[http://www.cancerindex.org/geneweb/TP53.htm ''TP53'' by Cancer Index]''' - gene, pathway, publication information matched to cancer type

'''[https://www.mycancergenome.org/content/gene/gata2/ ''GATA2'' by My Cancer Genome]''' - brief gene overview

'''[http://oncokb.org/#/gene/TP53 ''TP53'' by OncoKB]''' - mutational landscape, mutation effect, variant classification

'''[http://www.uniprot.org/uniprot/P23769 ''GATA2'' by UniProt]''' - protein and molecular structure and function

'''[https://www.mycancergenome.org/content/gene/tp53/ ''TP53'' by My Cancer Genome]''' - brief gene overview

'''[https://pfam.xfam.org/protein/P23769 ''GATA2'' by Pfam]''' - gene and protein structure and function information

'''[http://www.uniprot.org/uniprot/P04637 ''TP53'' by UniProt]''' - protein and molecular structure and function

'''[http://www.genecards.org/cgi-bin/carddisp.pl?gene=gata2 ''GATA2'' by GeneCards]''' - general gene information and summaries

'''[https://pfam.xfam.org/family/p53 ''TP53'' by Pfam]''' - gene and protein structure and function information

'''[http://www.omim.org/entry/137295 ''GATA2'' by OMIM]''' - compendium of human genes and genetic phenotypes

'''[http://www.genecards.org/cgi-bin/carddisp.pl?gene=tp53 ''TP53'' by GeneCards]''' - general gene information and summaries

'''[https://databases.lovd.nl/shared/genes/GATA2 ''GATA2'' by LOVD(3)]''' - Leiden Open Variation Database

'''[https://www.ncbi.nlm.nih.gov/books/NBK1311/ GeneReviews]''' - information on Li Fraumeni Syndrome

'''[http://www.unav.es/genetica/TICdb/results.php?hgnc=GATA2 ''GATA2'' by TICdb]''' - database of Translocation breakpoints In Cancer

==References==

==References==

1. Collin M, et al., (2015). Haematopoietic and immune defects associated with GATA2 mutation. Br J Haematol 169(2):173-187. PMID 25707267

#Arber DA, et al., (2008). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman JW, Editors. IARC Press: Lyon, France, p117-118.

 

2. Tsai FY, et al., (1994). An early haematopoietic defect in mice lacking the transcription factor GATA-2. Nature 371(6494):221-226. PMID 8078582

 

 

4. May G, et al., (2013). Dynamic analysis of gene expression and genome-wide transcription factor binding during lineage specification of multipotent progenitors. Cell Stem Cell 13(6):754-768. PMID 24120743

 

5. Beck D, et al., (2013). Genome-wide analysis of transcriptional regulators in human HSPCs reveals a densely interconnected network of coding and noncoding genes. Blood 122(14);e12-e22. PMID 23974199

 

6. Vicente C, et al., (2012). Overexpression of GATA2 predicts an adverse prognosis for patients with acute myeloid leukemia and it is associated with distinct molecular abnormalities. Leukemia 26(3):550-554. PMID 21904383

 

7. Ayala RM, et al., (2009). Clinical significance of Gata-1, Gata-2, EKLF, and c-MPL expression in acute myeloid leukemia. Am J Hematol 84(20:79-86. PMID 19097174

 

8. Spinner MA, et al., (2014). GATA2 deficiency: a protein disorder of hematopoiesis, lymphatics, and immunity. Blood 123(6):809-821. PMID 24227816

 

9. Gröschel S, et al., (2014). A single oncogenic enhancer rearrangement cause concomitant EVI1 and GATA2 reregulation in leukemia. Cell 157(20):369-381. PMID 24703711

 

 

11. Zhang SJ, et al., (2009). GATA-2 L359V mutation is exclusively associated with CML progression but no other haematological malignancies and GATA-2 P250A is a novel single nucleotide polymorphism. PMID 19304323

12. Kumar MS, et al., (2012). The GATA2 transcriptional network is requisite for RAS oncogene-driven non-small cell lung cancer. PMID 22541434

#Li Y, et al., (2001). Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia. Nat Genet 28:220-221, PMID 11431691.

== Notes ==

==Notes==

<nowiki>*</nowiki>Primary authors will typically be those that initially create and complete the content of a page.  If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage).  Additional global feedback or concerns are also welcome.

<nowiki>*</nowiki>Primary authors will typically be those that initially create and complete the content of a page.  If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage).  Additional global feedback or concerns are also welcome.

[[Category:Cancer Genes G]]

[[Category:Cancer Genes G]]