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1,342 bytes added ,  14:21, 12 December 2023
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==Primary Author(s)*==
 
==Primary Author(s)*==
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Kay Weng Choy MBBS
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Kay Weng Choy, MBBS, Monash Medical Centre
    
__TOC__
 
__TOC__
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==Cancer Category/Type==
 
==Cancer Category/Type==
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Myelodysplastic syndrome (MDS)/acute myeloid leukemia (AML), chronic myeloid leukemia (CML)
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*'''[http://www.ccga.io/index.php/Myeloid_Neoplasms_with_Germline_Predisposition Myeloid Neoplasms with Germline Predisposition]'''
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--- '''[http://www.ccga.io/index.php/HAEM4:Myeloid_Neoplasms_with_Germline_GATA2_Mutation Myeloid Neoplasms with Germline GATA2 Mutation]'''
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Myelodysplastic syndrome (MDS)/acute myeloid leukemia (AML)
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Chronic myeloid leukemia (CML)
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Non-small cell lung cancer (NSCLC)
 
Non-small cell lung cancer (NSCLC)
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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)
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{| class="wikitable sortable"
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==Internal Pages==
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! Copy Number Loss  !! Copy Number Gain  !!  LOH  !!  Loss-of-Function Mutation  !!  Gain-of-Function Mutation  !!  Translocation/Fusion
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|-
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|}
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==Internal Pages==
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'''[[HAEM5:Acute myeloid leukaemia with MECOM rearrangement]]'''
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Acute Myeloid Leukemia (AML) with inv(3)(q21.3q26.2) or t(3;3)(q21.3;q26.2);GATA2, MECOM
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'''[[HAEM4:Myeloid Neoplasms with Germline GATA2 Mutation]]'''
    
==External Links==
 
==External Links==
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GATA2 by Atlas of Genetics and Cytogenetics in Oncology detailed gene information
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'''[http://atlasgeneticsoncology.org/Genes/GATA2ID44160ch3q21.html ''GATA2'' by Atlas of Genetics and Cytogenetics in Oncology and Haematology]''' - detailed gene information
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'''[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=GATA2 ''GATA2'' by COSMIC]''' - sequence information, expression, catalogue of mutations
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'''[https://civicdb.org/events/genes/25/summary/variants/57/summary ''GATA2'' by CIViC]''' - general knowledge and evidence-based variant specific information
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'''[https://pecan.stjude.cloud/proteinpaint/gata2 ''GATA2'' by St. Jude ProteinPaint]''' mutational landscape and matched expression data.
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'''[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
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'''[http://www.cancerindex.org/geneweb/GATA2.htm ''GATA2'' by Cancer Index]''' - gene, pathway, publication information matched to cancer type
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GATA2 by COSMIC – sequence information, expression, catalogue of mutations
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'''[http://oncokb.org/#/gene/gata2 ''GATA2'' by OncoKB]''' - mutational landscape, mutation effect, variant classification
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GATA2 by CIViC – general knowledge and evidence-based specific information
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'''[https://www.ncbi.nlm.nih.gov/gene/2624 ''GATA2'' by NCBI Gene]''' - brief gene overview
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GATA2 by Precision Medicine Knowledgebase (Weill Cornell) – manually vetted interpretations of variants and CNVs
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'''[https://www.mycancergenome.org/content/gene/gata2/ ''GATA2'' by My Cancer Genome]''' - brief gene overview
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GATA2 by Cancer Genetics Web – gene, pathway, and publication information matched to cancer type
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'''[http://www.uniprot.org/uniprot/P23769 ''GATA2'' by UniProt]''' - protein and molecular structure and function
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GATA2 by OncoKB – mutational landscape, mutation effect, variant classification
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'''[https://pfam.xfam.org/protein/P23769 ''GATA2'' by Pfam]''' - gene and protein structure and function information
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GATA2 by My Cancer Genome – brief gene overview
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'''[http://www.genecards.org/cgi-bin/carddisp.pl?gene=gata2 ''GATA2'' by GeneCards]''' - general gene information and summaries
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GATA2 by UniProt – protein and molecular structure and function
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'''[http://www.omim.org/entry/137295 ''GATA2'' by OMIM]''' - compendium of human genes and genetic phenotypes
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GATA2 by Pfam – gene and protein structure and function information
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'''[https://databases.lovd.nl/shared/genes/GATA2 ''GATA2'' by LOVD(3)]''' - Leiden Open Variation Database
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GATA2 by GeneCards – general gene information and summaries
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'''[http://www.unav.es/genetica/TICdb/results.php?hgnc=GATA2 ''GATA2'' by TICdb]''' - database of Translocation breakpoints In Cancer
    
==References==
 
==References==
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12. Kumar MS, et al., (2012). The GATA2 transcriptional network is requisite for RAS oncogene-driven non-small cell lung cancer. PMID 22541434
 
12. Kumar MS, et al., (2012). The GATA2 transcriptional network is requisite for RAS oncogene-driven non-small cell lung cancer. PMID 22541434
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== Notes ==
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==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]]