Atlas of Genetics and Cytogenetics in Oncology and Haematology


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RUNX1 (runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene))

Identity

Other namesAML1 (acute myeloid leukemia 1)
CBFA2 (core binding factor A2)
PEBPaB (polyomavirus enhancer binding protein aB)
HGNC (Hugo) RUNX1
LocusID (NCBI) 861
Location 21q22.12
Location_base_pair Starts at 36160098 and ends at 36260987 bp from pter ( according to hg19-Feb_2009)  [Mapping]
 
  AML1 (21q22.3) in normal cells: clone dJ1107L6 - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.

DNA/RNA

 
  DNA Diagram
Description the gene spans a region of more than 120 kb
Transcription transcription is from telomere to centromere --> the fusion gene is located on the 'other' chromosome (eg the der(8) of the t(8;21), the der(3) of the t(3;21)...); alternate splicing --> transcripts of 2, 3.3, ->7.5 and 8 kb

Protein

 
  Protein Diagram
Description 250, 453 amino acids and other forms; forms heterodimers with CBFB
Expression widely expressed, including hematopoietic cells at various stages of differenciation: role in haematopoiesis
Localisation nuclear
Function transcription factor (activator) for various hematopoietic-specific genes: binds to the core site 5' PyGPyGGTPy 3' of a number of promotors and enhancers, as in GM-CSF (granulocyte-macrophage colony stimulating factor), CSF1R (colony stimulating factor 1 receptor), TCRb sites (T cell antigen receptors), and myeloid myeloperoxidase
Homology 1- Runt (drosophila): nuclear DNA binding protein; role in segmentation (embryology); 2- AML2 (also called: CBFA3, CBFa3, PEBPaC), located in 1p35-36, expressed in B lineage (3 and 5 kb RNA); AML3: (also called: CBFA1, CBFa1, PEBPaA) in 6p21; 3- cbfa family (mouse)

Implicated in

Entity Familial platelet disorder with predisposition to acute non lymphocytic leukemia
  
Entity t(1;21)(p36;q22) treatment related acute non lymphocytic leukemia (ANLL) --> ?/ AML1
  
Entity t(2;21)(p11;q22) ANLL --> ?/ AML1
  
Entity t(3;21)(q26;q22)/ myelodysplastic syndrome (MDS) or ANLL --> -EVI1 or EAP/ MDS1 - AML1
Disease CML-BC of myeloid type; ANLL and MDS, often therapy related (secondary to antitopoisomerase II)
Hybrid/Mutated Gene 5' AML1 - 3' EAP or MDS1 or EVI1
  
Entity t(4;21)(q31;q22) T-cell acute lymphoblastic leukemia (T-ALL) --> ?/ AML1
  
Entity t(5;21)(q13;q22) myelodysplastic syndrome (MDS) and ANLL --> ?/ AML1
  
Entity t(8;21)(q22;q22)/ANLL. --> ETO - AML1
Disease ANLL, M2 mostly
Prognosis CR is obtained; median survival (1.5-2 yrs) is the range with other ANLL or relatively better
Cytogenetics additional anomalies are frequent: loss of Y or X chromosome, del(7q)/-7, +8, del (9q); complex t(8;21;Var) are known and have revealed that the crucial event lies on der(8); in agrement with the fact that both genes are transcribed from telomere to centromere
Hybrid/Mutated Gene 5' AML1 - 3' ETO
Abnormal Protein N-term AML1 with the Runt domain fused to the nearly entire ETO
Oncogenesis the fusion protein retain the ability to recognize the AML1 concensus binding site (--> negative dominant competitor with the normal AML1) and to dimerize with the cbtb/CBTB subunit --> probable altered transcriptional regulation of normal AML1 target genes
  
Entity t(8;21)(q23;q22) MDS --> FOG2 / AML1
  
Entity t(8;21)(q24;q22) ALL and ANLL --> TRPS1 / AML1
  
Entity t(12;21)(p13;q22)/ALL --> ETV6-AML1
Disease B cell ALL (CD10+)
Prognosis CR in all cases; prognosis seems good
Cytogenetics often undetectable without FISH; additional anomalies: frequent del(12)(p12) on the other allele
Hybrid/Mutated Gene 5' ETV6 - 3' AML1on the der(21)
Abnormal Protein Helix loop helix of TEL fused to the nearly entire AML1 protein; the other TEL allele is often deleted
  
Entity t(12;21)(q24;q22) ANLL --> ?/ AML1
  
Entity t(16;21)(q24;q22) ANLL --> MTG16-AML1
Disease ANLL and therapy related ANLL; mainly with preceeding MDS
Prognosis very poor
  
Entity t(17;21)(q11;q22) ANLL
  
Entity t(19;21)(q13;q22) treatment related ANLL --> AMP19 / AML1
  
Entity t(20;21)(q1;3q22) treatment related ANL --> ? / AML1
  
Entity t(21;21)(q11;q22) MDS --> UPS25 / AML1
  

Breakpoints

 

Other Leukemias implicated (Data extracted from papers in the Atlas)

Leukemias 11q23ChildAMLID1615 11q23ID1030 11q23secondLeukID1131 t1119ELLID1029 t0812q24q22ID2057
t0814ID1050 8p11inMPDID1091 inv8p11q13ID1189 PrimarCutanALCLID2118 t0708q34p11ID1409
t0809p12q33ID1129 t0811p11p15ID1200 t0811p12p15ID1521 t0812p12p11ID1330 t0812p12q15ID1201
t0817p12q23ID1387 t0817p12q25ID1202 t0819p11q13ID1315 t0819p12q13ID1203 t0822p11q11ID1224
t0822p11q13ID1119 t0921q34q22ID1483 t68ID1090 t813ID1094 t68ID1090
t813ID1094 TcellClassifID2079 12pmyeloID1032 t0812q12p13ID1218 t1012q24p13ID1451
M3ANLLID1240 t1117ID1028 t1117ID1126 t1517ID1035 11q23ID1030
11q23secondLeukID1131 t0111p32q23ID1046 BCLDClassifID2072 CLLID2034 CMLID1117
del11qNHLID2020 SLLID2073 t0609ID1014

External links

Nomenclature
HGNC (Hugo)RUNX1   10471
Cards
AtlasAML1ID52
Entrez_Gene (NCBI)RUNX1  861  runt-related transcription factor 1
GeneCards (Weizmann)RUNX1
Ensembl (Hinxton)ENSG00000159216 [Gene_View]  chr21:36160098-36260987 [Contig_View]  RUNX1 [Vega]
ICGC DataPortalENSG00000159216
AceView (NCBI)RUNX1
Genatlas (Paris)RUNX1
WikiGenes861
SOURCE (Princeton)NM_001001890 NM_001122607 NM_001754
Genomic and cartography
GoldenPath (UCSC)RUNX1  -  21q22.12   chr21:36160098-36260987 -  21q22.3   [Description]    (hg19-Feb_2009)
EnsemblRUNX1 - 21q22.3 [CytoView]
Mapping of homologs : NCBIRUNX1 [Mapview]
OMIM151385   601399   
Gene and transcription
Genbank (Entrez)AA878154 AK226159 AK310587 AL581043 AV761975
RefSeq transcript (Entrez)NM_001001890 NM_001122607 NM_001754
RefSeq genomic (Entrez)AC_000153 NC_000021 NC_018932 NG_011402 NT_011512 NW_001838706 NW_004929426
Consensus coding sequences : CCDS (NCBI)RUNX1
Cluster EST : UnigeneHs.612648 [ NCBI ]
CGAP (NCI)Hs.612648
Alternative Splicing : Fast-db (Paris)GSHG0019670
Alternative Splicing GalleryENSG00000159216
Gene ExpressionRUNX1 [ NCBI-GEO ]     RUNX1 [ SEEK ]   RUNX1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ01196 (Uniprot)
NextProtQ01196  [Medical]
With graphics : InterProQ01196
Splice isoforms : SwissVarQ01196 (Swissvar)
Domaine pattern : Prosite (Expaxy)RUNT (PS51062)   
Domains : Interpro (EBI)AML1_Runt    p53-like_TF_DNA-bd    p53/RUNT-type_TF_DNA-bd    Runt_dom    Runx_central_dom    RunxI_C_dom    TF_Runt-rel_RUNX   
Related proteins : CluSTrQ01196
Domain families : Pfam (Sanger)Runt (PF00853)    RunxI (PF08504)   
Domain families : Pfam (NCBI)pfam00853    pfam08504   
DMDM Disease mutations861
Blocks (Seattle)Q01196
PDB (SRS)1CMO    1CO1    1E50    1H9D    1LJM   
PDB (PDBSum)1CMO    1CO1    1E50    1H9D    1LJM   
PDB (IMB)1CMO    1CO1    1E50    1H9D    1LJM   
PDB (RSDB)1CMO    1CO1    1E50    1H9D    1LJM   
Human Protein AtlasENSG00000159216
Peptide AtlasQ01196
HPRD01043
IPIIPI00477787   IPI00218529   IPI00218530   IPI00218936   IPI00936936   IPI00797455   IPI00952824   IPI00939238   IPI00218943   IPI00941683   IPI00871743   IPI00218942   IPI01018795   IPI00816187   IPI00413370   IPI00791456   IPI00794722   
Protein Interaction databases
DIP (DOE-UCLA)Q01196
IntAct (EBI)Q01196
FunCoupENSG00000159216
BioGRIDRUNX1
IntegromeDBRUNX1
STRING (EMBL)RUNX1
Ontologies - Pathways
QuickGOQ01196
Ontology : AmiGOregulatory region DNA binding  skeletal system development  in utero embryonic development  liver development  myeloid progenitor cell differentiation  DNA binding  sequence-specific DNA binding transcription factor activity  sequence-specific DNA binding transcription factor activity  calcium ion binding  protein binding  ATP binding  basement membrane  nucleus  nucleus  transcription, DNA-templated  central nervous system development  transcription factor binding  regulation of signal transduction  hemopoiesis  hemopoiesis  myeloid cell differentiation  negative regulation of granulocyte differentiation  positive regulation of granulocyte differentiation  hair follicle morphogenesis  embryonic hemopoiesis  protein homodimerization activity  positive regulation of angiogenesis  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  protein heterodimerization activity  behavioral response to pain  peripheral nervous system neuron development  definitive hemopoiesis  repressing transcription factor binding  regulation of hair follicle cell proliferation  hematopoietic stem cell proliferation  positive regulation of progesterone secretion  
Ontology : EGO-EBIregulatory region DNA binding  skeletal system development  in utero embryonic development  liver development  myeloid progenitor cell differentiation  DNA binding  sequence-specific DNA binding transcription factor activity  sequence-specific DNA binding transcription factor activity  calcium ion binding  protein binding  ATP binding  basement membrane  nucleus  nucleus  transcription, DNA-templated  central nervous system development  transcription factor binding  regulation of signal transduction  hemopoiesis  hemopoiesis  myeloid cell differentiation  negative regulation of granulocyte differentiation  positive regulation of granulocyte differentiation  hair follicle morphogenesis  embryonic hemopoiesis  protein homodimerization activity  positive regulation of angiogenesis  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  protein heterodimerization activity  behavioral response to pain  peripheral nervous system neuron development  definitive hemopoiesis  repressing transcription factor binding  regulation of hair follicle cell proliferation  hematopoietic stem cell proliferation  positive regulation of progesterone secretion  
Pathways : KEGGPathways in cancer    Transcriptional misregulation in cancer    Chronic myeloid leukemia    Acute myeloid leukemia   
Protein Interaction DatabaseRUNX1
Wikipedia pathwaysRUNX1
Gene fusion - rearrangments
Rearrangement : TICdbRUNX1 [21q22.12]  -  AFF3 [9q34.12]
Rearrangement : TICdbRUNX1 [21q22.12]  -  CBFA2T3 [5q32]
Rearrangement : TICdbRUNX1 [21q22.12]  -  CLCA2 [13q12.2]
Rearrangement : TICdbRUNX1 [21q22.12]  -  KIAA1549L [2p23.2]
Rearrangement : TICdbRUNX1 [21q22.12]  -  LPXN [3p25.2]
Rearrangement : TICdbRUNX1 [21q22.12]  -  MACROD1 [3q27.3]
Rearrangement : TICdbRUNX1 [21q22.12]  -  RUNX1T1 [Xp11.23]
Rearrangement : TICdbRUNX1 [21q22.12]  -  SH3D19 [Xp11.22]
Rearrangement : TICdbRUNX1 [21q22.12]  -  TRPS1 [Xp11.23]
Rearrangement : TICdbRUNX1 [21q22.12]  -  USP42 [9p24.1]
Rearrangement : TICdbRUNX1 [21q22.12]  -  YTHDF2 [17q21.2]
Rearrangement : TICdbRUNX1 [21q22.12]  -  ZNF687 [4q12]
Rearrangement : TICdbETV6 [12p13.2]  -  RUNX1 [8p11.23]
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)RUNX1
SNP (GeneSNP Utah)RUNX1
SNP : HGBaseRUNX1
Genetic variants : HAPMAPRUNX1
1000_GenomesRUNX1 
ICGC programENSG00000159216 
Cancer Gene: CensusRUNX1 
CONAN: Copy Number AnalysisRUNX1 
Somatic Mutations in Cancer : COSMICRUNX1 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
DECIPHER (Syndromes)21:36160098-36260987
Mutations and Diseases : HGMDRUNX1
OMIM151385    601399   
MedgenRUNX1
GENETestsRUNX1
Disease Genetic AssociationRUNX1
Huge Navigator RUNX1 [HugePedia]  RUNX1 [HugeCancerGEM]
Genomic VariantsRUNX1  RUNX1 [DGVbeta]
Exome VariantRUNX1
dbVarRUNX1
ClinVarRUNX1
snp3D : Map Gene to Disease861
General knowledge
Homologs : HomoloGeneRUNX1
Homology/Alignments : Family Browser (UCSC)RUNX1
Phylogenetic Trees/Animal Genes : TreeFamRUNX1
Chemical/Protein Interactions : CTD861
Chemical/Pharm GKB GenePA34884
Drug Sensitivity RUNX1
Clinical trialRUNX1
Cancer Resource (Charite)ENSG00000159216
Other databases
Other databasehttp://cancergenome.broadinstitute.org/index.php?tgene=RUNX1
Probes
ProbeAML1 (21q22.3) in normal cells (Bari)
Litterature
PubMed470 Pubmed reference(s) in Entrez
CoreMineRUNX1
GoPubMedRUNX1
iHOPRUNX1

Bibliography

Molecular basis of the t(8;21) translocation in acute myeloid leukaemia.
Ohki M
Seminars in cancer biology. 1993 ; 4 (6) : 369-375.
PMID 8142622
 
AML1 and the 8;21 and 3;21 translocations in acute and chronic myeloid leukemia.
Nucifora G, Rowley JD
Blood. 1995 ; 86 (1) : 1-14.
PMID 7795214
 
High frequency of t(12;21) in childhood B-lineage acute lymphoblastic leukemia.
Romana SP, Poirel H, Leconiat M, Flexor MA, Mauchauffˆ© M, Jonveaux P, Macintyre EA, Berger R, Bernard OA
Blood. 1995 ; 86 (11) : 4263-4269.
PMID 7492786
 
CBFA2(AML1) translocations with novel partner chromosomes in myeloid leukemias: association with prior therapy.
Roulston D, Espinosa R 3rd, Nucifora G, Larson RA, Le Beau MM, Rowley JD
Blood. 1998 ; 92 (8) : 2879-2885.
PMID 9763573
 
Combined spectral karyotyping and DAPI banding analysis of chromosome abnormalities in myelodysplastic syndrome.
Kakazu N, Taniwaki M, Horiike S, Nishida K, Tatekawa T, Nagai M, Takahashi T, Akaogi T, Inazawa J, Ohki M, Abe T
Genes, chromosomes & cancer. 1999 ; 26 (4) : 336-345.
PMID 10534769
 
A new angle on a pervasive oncogene.
Cleary ML
Nature genetics. 1999 ; 23 (2) : 134-135.
PMID 10508502
 
Concurrent translocations of MLL and CBFA2 (AML1) genes with new partner breakpoints in a child with secondary myelodysplastic syndrome after treatment of acute lymphoblastic leukemia.
Mathew S, Head D, Rubnitz JE, Raimondi SC
Genes, chromosomes & cancer. 2000 ; 28 (2) : 227-232.
PMID 10825008
 
Identification of two new translocations that disrupt the AML1 gene.
Richkind K, Hromas R, Lytle C, Crenshaw D, Velasco J, Roherty S, Srinivasiah J, Varella-Garcia M
Cancer genetics and cytogenetics. 2000 ; 122 (2) : 141-143.
PMID 11106827
 
A novel syndrome of radiation-associated acute myeloid leukemia involving AML1 gene translocations.
Hromas R, Shopnick R, Jumean HG, Bowers C, Varella-Garcia M, Richkind K
Blood. 2000 ; 95 (12) : 4011-4013.
PMID 10845943
 
A novel CBFA2 single-nucleotide mutation in familial platelet disorder with propensity to develop myeloid malignancies.
Buijs A, Poddighe P, van Wijk R, van Solinge W, Borst E, Verdonck L, Hagenbeek A, Pearson P, Lokhorst H
Blood. 2001 ; 98 (9) : 2856-2858.
PMID 11675361
 
Novel cryptic, complex rearrangements involving ETV6-CBFA2 (TEL-AML1) genes identified by fluorescence in situ hybridization in pediatric patients with acute lymphoblastic leukemia.
Mathew S, Shurtleff SA, Raimondi SC
Genes, chromosomes & cancer. 2001 ; 32 (2) : 188-193.
PMID 11550288
 
AML1-TRPS1 chimeric protein is generated by t(8;21)(q24;q22) in relapsing acute myeloblastic leukemia.
Asou N, Matsuno N, Mitsuya H
Am Soc Hematol,. 1943.
 
In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis.
Michaud J, Wu F, Osato M, Cottles GM, Yanagida M, Asou N, Shigesada K, Ito Y, Benson KF, Raskind WH, Rossier C, Antonarakis SE, Israels S, McNicol A, Weiss H, Horwitz M, Scott HS
Blood. 2002 ; 99 (4) : 1364-1372.
PMID 11830488
 
A new translocation that rearranges the AML1 gene in a patient with T-cell acute lymphoblastic leukemia.
Mikhail FM, Serry KA, Hatem N, Mourad ZI, Farawela HM, El Kaffash DM, Coignet L, Nucifora G
Cancer genetics and cytogenetics. 2002 ; 135 (1) : 96-100.
PMID 12072207
 
High frequency of t(12;21) in childhood B-lineage acute lymphoblastic leukemia.
Romana SP, et al.
Blood. 1995 Dec 1;86(11):4263-9.
PMID 7492786
 
CBFA2(AML1) Translocations With Novel Partner Chromosomes in Myeloid Leukemias: Association With Prior Therapy.
Roulston D, Espinosa IIIR, Nucifora G, Larson RA, Le Beau MM, Rowley JD.
Blood 1998; 92: 2879-2885.
 
Combined spectral karyotyping and DAPI banding analysis of chromosome abnormalities in myelodysplastic syndrome.
Kakazu N, Taniwaki M, Horiike S, Nishida K, Tatekawa T, Nagai M, Takahashi T, Akaogi T, Inazawa J, Ohki M, Abe T.
Genes Chromosomes Cancer 1999; 26: 336-345.
 
Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia.
Song WJ, Sullivan MG, Legare RD, Hutchings S, Tan X, Kufrin D, Ratajczak J, Resende IC, Haworth C, Hock R, Loh M, Felix C, Roy DC, Busque L, Kurnit D, Willman C, Gewirtz AM, Speck NA, Bushweller JH, Li FP, Gardiner K, Poncz M, Maris JM, Gilliland DG.
Nat Genet. 1999;23:134-135.
 
Concurrent translocations of MLL and CBFA2 (AML1) genes with new partner breakpoints in a child with secondary myelodysplastic syndrome after treatment of acute lymphoblastic leukemia.
Mathew S, Head D, Rubnitz JE, Raimondi SC.
Genes Chromosomes Cancer 2000; 28: 227-232.
PMID 10825008
 
Identification of two new translocations that disrupt the AML1 gene.
Richkind K, Hromas R, Lytle C, Crenshaw D, Velasco J, Roherty S, Srinivasiah J, Varella-Garcia M.
Cancer Genet Cytogenet 2000; 122: 141-143.
 
A novel syndrome of radiation-associated acute myeloid leukemia involving AML1 gene translocations
Hromas R, Shopnick R, Jumean HG, Bowers C, Varella-Garcia M, Richkind K.
Blood 2000; 95:4011-4013
 
A novel CBFA2 single-nucleotide mutation in familial platelet disorder with propensity to develop myeloid malignancies.
Buijs A, Poddighe P, van Wijk R, van Solinge W, Borst E, Verdonck L, Hagenbeek A, Pearson P, Lokhorst H.
Blood 2001; 98:2856-2858.
 
Novel cryptic, complex rearrangements involving ETV6-CBFA2 (TEL-AML1) genes identified by fluorescence in situ hybridization in pediatric patients with acute lymphoblastic leukemia.
Mathew S, Shurtleff SA, Raimondi SC.
Genes Chromosomes Cancer. 2001; 32: 188-193.
PMID 11550288
 
AML1-TRPS1 chimeric protein is generated by t(8;21)(q24;q22) in relapsing acute myeloblastic leukemia.
Asou N, Matsuno N, Mitsuya H.
Am Soc Hematol, 43 Annual meeting, Blood 2001; 98 11: 564a.
 
In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis.
Michaud J, Wu F, Osato M, Cottles GM, Yanagida M, Asou N, Shigesada K, Ito Y, Benson KF, Raskind WH, Rossier C, Antonarakis SE, Israels S, McNicol A, Weiss H, Horwitz M, Scott HS.
Blood 2002;99:1364-1372.
 
A new translocation that rearranges the AML1 gene in a patient with T-cell acute lymphoblastic leukemia.
Mikhail FM, Serry KA, Hatem N, Mourad ZI, Farawela HM, El Kaffash DM, Coignet L, Nucifora G.
Cancer Genet Cytogenet 2002; 135: 96-100.
 
Molecular basis of the t(8;21) translocation in acute myeloid leukaemia.
Ohki M
Seminars in cancer biology. 1993 ; 4 (6) : 369-375.
PMID 8142622
 
AML1 and the 8;21 and 3;21 translocations in acute and chronic myeloid leukemia.
Nucifora G, Rowley JD
Blood. 1995 ; 86 (1) : 1-14.
PMID 7795214
 
High frequency of t(12;21) in childhood B-lineage acute lymphoblastic leukemia.
Romana SP, Poirel H, Leconiat M, Flexor MA, Mauchauffˆ© M, Jonveaux P, Macintyre EA, Berger R, Bernard OA
Blood. 1995 ; 86 (11) : 4263-4269.
PMID 7492786
 
CBFA2(AML1) translocations with novel partner chromosomes in myeloid leukemias: association with prior therapy.
Roulston D, Espinosa R 3rd, Nucifora G, Larson RA, Le Beau MM, Rowley JD
Blood. 1998 ; 92 (8) : 2879-2885.
PMID 9763573
 
Combined spectral karyotyping and DAPI banding analysis of chromosome abnormalities in myelodysplastic syndrome.
Kakazu N, Taniwaki M, Horiike S, Nishida K, Tatekawa T, Nagai M, Takahashi T, Akaogi T, Inazawa J, Ohki M, Abe T
Genes, chromosomes & cancer. 1999 ; 26 (4) : 336-345.
PMID 10534769
 
A new angle on a pervasive oncogene.
Cleary ML
Nature genetics. 1999 ; 23 (2) : 134-135.
PMID 10508502
 
Concurrent translocations of MLL and CBFA2 (AML1) genes with new partner breakpoints in a child with secondary myelodysplastic syndrome after treatment of acute lymphoblastic leukemia.
Mathew S, Head D, Rubnitz JE, Raimondi SC
Genes, chromosomes & cancer. 2000 ; 28 (2) : 227-232.
PMID 10825008
 
Identification of two new translocations that disrupt the AML1 gene.
Richkind K, Hromas R, Lytle C, Crenshaw D, Velasco J, Roherty S, Srinivasiah J, Varella-Garcia M
Cancer genetics and cytogenetics. 2000 ; 122 (2) : 141-143.
PMID 11106827
 
A novel syndrome of radiation-associated acute myeloid leukemia involving AML1 gene translocations.
Hromas R, Shopnick R, Jumean HG, Bowers C, Varella-Garcia M, Richkind K
Blood. 2000 ; 95 (12) : 4011-4013.
PMID 10845943
 
A novel CBFA2 single-nucleotide mutation in familial platelet disorder with propensity to develop myeloid malignancies.
Buijs A, Poddighe P, van Wijk R, van Solinge W, Borst E, Verdonck L, Hagenbeek A, Pearson P, Lokhorst H
Blood. 2001 ; 98 (9) : 2856-2858.
PMID 11675361
 
Novel cryptic, complex rearrangements involving ETV6-CBFA2 (TEL-AML1) genes identified by fluorescence in situ hybridization in pediatric patients with acute lymphoblastic leukemia.
Mathew S, Shurtleff SA, Raimondi SC
Genes, chromosomes & cancer. 2001 ; 32 (2) : 188-193.
PMID 11550288
 
AML1-TRPS1 chimeric protein is generated by t(8;21)(q24;q22) in relapsing acute myeloblastic leukemia.
Asou N, Matsuno N, Mitsuya H
Am Soc Hematol,. 1943.
 
In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis.
Michaud J, Wu F, Osato M, Cottles GM, Yanagida M, Asou N, Shigesada K, Ito Y, Benson KF, Raskind WH, Rossier C, Antonarakis SE, Israels S, McNicol A, Weiss H, Horwitz M, Scott HS
Blood. 2002 ; 99 (4) : 1364-1372.
PMID 11830488
 
A new translocation that rearranges the AML1 gene in a patient with T-cell acute lymphoblastic leukemia.
Mikhail FM, Serry KA, Hatem N, Mourad ZI, Farawela HM, El Kaffash DM, Coignet L, Nucifora G
Cancer genetics and cytogenetics. 2002 ; 135 (1) : 96-100.
PMID 12072207
 
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Contributor(s)

Written11-1997Jean-Loup Huret
Updated12-1997Jean-Loup Huret
Updated01-2003Jean-Loup Huret and Sylvie Senon

Citation

This paper should be referenced as such :
Huret, JL ; Senon, S
AML1 (acute myeloid leukemia 1) - RUNX1 (runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene)) - CBFA2 (core binding factor A2)
Atlas Genet Cytogenet Oncol Haematol. 2003;7(2):84-87.
Free online version   Free pdf version   [Bibliographic record ]
Atlas Genet Cytogenet Oncol Haematol. November 1997
http://documents.irevues.inist.fr/bitstream/handle/2042/32051/12-1997-AML1.pdf
Atlas Genet Cytogenet Oncol Haematol. November 1997
URL : http://AtlasGeneticsOncology.org/Genes/AML1ID52.html

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