Atlas of Genetics and Cytogenetics in Oncology and Haematology


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EGFR (epidermal growth factor receptor)

Identity

Alias_namesERBB
epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)
Alias_symbol (synonym)ERBB1
Other aliasHER1
NISBD2
PIG61
mENA
HGNC (Hugo) EGFR
LocusID (NCBI) 1956
Atlas_Id 147
Location 7p11.2  [Link to chromosome band 7p11]
Location_base_pair Starts at 55019021 and ends at 55203076 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CAND1 (12q14.3) / EGFR (7p11.2)EGFR (7p11.2) / ACADM (1p31.1)EGFR (7p11.2) / DYM (18q21.1)
EGFR (7p11.2) / EGFR (7p11.2)EGFR (7p11.2) / ERP44 (9q31.1)EGFR (7p11.2) / GNS (12q14.3)
EGFR (7p11.2) / KRT89P ()EGFR (7p11.2) / POLD1 (19q13.33)EGFR (7p11.2) / PPM1H (12q14.1)
EGFR (7p11.2) / PSPH (7p11.2)EGFR (7p11.2) / PSPHP1 (7p11.2)EGFR (7p11.2) / PTPRF (1p34.2)
EGFR (7p11.2) / SEPT14 (7p11.2)EGFR (7p11.2) / VOPP1 (7p11.2)FAM65A (16q22.1) / EGFR (7p11.2)
IGH (14q32.33) / EGFR (7p11.2)KRT89P () / EGFR (7p11.2)MDM2 (12q15) / EGFR (7p11.2)
MUC13 (3q21.2) / EGFR (7p11.2)SEC61G (7p11.2) / EGFR (7p11.2)SLC12A9 (7q22.1) / EGFR (7p11.2)
EGFR 7p11.2 / ACADM 1p31.1EGFR 7p11.2 / DYM 18q21.1EGFR 7p11.2 / ERP44 9q31.1
EGFR 7p11.2 / GNS 12q14.3EGFR 7p11.2 / PPM1H 12q14.1EGFR 7p11.2 / SEPT14 7p11.2
MDM2 12q15 / EGFR 7p11.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 3 ]
  idic(7)(q11.2)
t(1;9)(p34;q34) SFPQ/ABL1
t(9;13)(p12;q21) PAX5/DACH1


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 25 ]
  Thyroid: Anaplastic (undifferentiated) carcinoma
Nervous system: Astrocytic tumors
Colon: Colorectal adenocarcinoma
Breast: Ductal carcinoma
Fallopian tube tumors: an overview
Gastric Tumors: an overview
Nervous System: Glioma: an overview
Head and Neck: Squamous cell carcinoma: an overview
Gallbladder: Intrahepatic cholangiocarcinoma
Lung: Non-small cell carcinoma with inv(2)(p21p23) EML4/ALK
Head and Neck: Laryngeal tumors: an overview
Head and Neck: Laryngeal squamous cell carcinoma
Lung: Non-small cell carcinoma
Thyroid: Medullary carcinoma
Head and Neck: Oral squamous cell carcinoma
Ovarian tumours : an overview
Ovary: Epithelial tumors
Pancreatic tumors: an overview
Head and Neck: Salivary gland tumors: an overview
Soft tissue tumors: an overview
Squamous cell cancer
Lung: Adenocarcinoma with t(6;12)(q22;q14.1) LRIG3/ROS1
Head and Neck: Thymus: Thymoma: an overview
Lung: Translocations in Adenocarcinoma
Lung: Translocations in Squamous Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)EGFR   3236
LRG (Locus Reference Genomic)LRG_304
Cards
Entrez_Gene (NCBI)EGFR  1956  epidermal growth factor receptor
AliasesERBB; ERBB1; HER1; NISBD2; 
PIG61; mENA
GeneCards (Weizmann)EGFR
Ensembl hg19 (Hinxton)ENSG00000146648 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000146648 [Gene_View]  chr7:55019021-55203076 [Contig_View]  EGFR [Vega]
ICGC DataPortalENSG00000146648
TCGA cBioPortalEGFR
AceView (NCBI)EGFR
Genatlas (Paris)EGFR
WikiGenes1956
SOURCE (Princeton)EGFR
Genetics Home Reference (NIH)EGFR
Genomic and cartography
GoldenPath hg38 (UCSC)EGFR  -     chr7:55019021-55203076 +  7p11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EGFR  -     7p11.2   [Description]    (hg19-Feb_2009)
EnsemblEGFR - 7p11.2 [CytoView hg19]  EGFR - 7p11.2 [CytoView hg38]
Mapping of homologs : NCBIEGFR [Mapview hg19]  EGFR [Mapview hg38]
OMIM131550   211980   616069   
Gene and transcription
Genbank (Entrez)###############################################################################################################################################################################################################################################################
RefSeq transcript (Entrez)NM_001346897 NM_001346898 NM_001346899 NM_001346900 NM_001346941 NM_005228 NM_201282 NM_201283 NM_201284
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EGFR
Cluster EST : UnigeneHs.731652 [ NCBI ]
CGAP (NCI)Hs.731652
Alternative Splicing GalleryENSG00000146648
Gene ExpressionEGFR [ NCBI-GEO ]   EGFR [ EBI - ARRAY_EXPRESS ]   EGFR [ SEEK ]   EGFR [ MEM ]
Gene Expression Viewer (FireBrowse)EGFR [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1956
GTEX Portal (Tissue expression)EGFR
Protein : pattern, domain, 3D structure
UniProt/SwissProtP00533   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP00533  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP00533
Splice isoforms : SwissVarP00533
Catalytic activity : Enzyme2.7.10.1 [ Enzyme-Expasy ]   2.7.10.12.7.10.1 [ IntEnz-EBI ]   2.7.10.1 [ BRENDA ]   2.7.10.1 [ KEGG ]   
PhosPhoSitePlusP00533
Domaine pattern : Prosite (Expaxy)PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_TYR (PS00109)   
Domains : Interpro (EBI)Furin-like_Cys-rich_dom    Furin_repeat    GF_recep_IV    Growth_fac_rcpt_    Kinase-like_dom    L_dom-like    Prot_kinase_dom    Protein_kinase_ATP_BS    Rcpt_L-dom    Ser-Thr/Tyr_kinase_cat_dom    Tyr_kinase_AS    Tyr_kinase_cat_dom    Tyr_kinase_EGF/ERB/XmrK_rcpt   
Domain families : Pfam (Sanger)Furin-like (PF00757)    GF_recep_IV (PF14843)    Pkinase_Tyr (PF07714)    Recep_L_domain (PF01030)   
Domain families : Pfam (NCBI)pfam00757    pfam14843    pfam07714    pfam01030   
Domain families : Smart (EMBL)FU (SM00261)  TyrKc (SM00219)  
Conserved Domain (NCBI)EGFR
DMDM Disease mutations1956
Blocks (Seattle)EGFR
PDB (SRS)###############################################################################################################################################################################################################################################################   
PDB (PDBSum)###############################################################################################################################################################################################################################################################   
PDB (IMB)###############################################################################################################################################################################################################################################################   
PDB (RSDB)###############################################################################################################################################################################################################################################################   
Structural Biology KnowledgeBase###############################################################################################################################################################################################################################################################   
SCOP (Structural Classification of Proteins)###############################################################################################################################################################################################################################################################   
CATH (Classification of proteins structures)###############################################################################################################################################################################################################################################################   
SuperfamilyP00533
Human Protein AtlasENSG00000146648
Peptide AtlasP00533
HPRD00579
IPIIPI00018274   IPI00221346   IPI00221347   IPI00221348   IPI00930194   IPI00930693   IPI01026443   IPI00915452   IPI01013089   IPI01011440   IPI00930192   IPI00930294   IPI00956452   IPI00943104   IPI00924546   IPI00926683   
Protein Interaction databases
DIP (DOE-UCLA)P00533
IntAct (EBI)P00533
FunCoupENSG00000146648
BioGRIDEGFR
STRING (EMBL)EGFR
ZODIACEGFR
Ontologies - Pathways
QuickGOP00533
Ontology : AmiGOGolgi membrane  MAPK cascade  activation of MAPKK activity  ossification  embryonic placenta development  positive regulation of protein phosphorylation  hair follicle development  glycoprotein binding  chromatin binding  double-stranded DNA binding  MAP kinase kinase kinase activity  protein tyrosine kinase activity  protein tyrosine kinase activity  protein tyrosine kinase activity  protein tyrosine kinase activity  transmembrane receptor protein tyrosine kinase activity  signal transducer, downstream of receptor, with protein tyrosine kinase activity  transmembrane signaling receptor activity  epidermal growth factor-activated receptor activity  epidermal growth factor-activated receptor activity  epidermal growth factor-activated receptor activity  Ras guanyl-nucleotide exchange factor activity  integrin binding  protein binding  calmodulin binding  ATP binding  extracellular space  nucleus  cytoplasm  endosome  endosome  endoplasmic reticulum membrane  plasma membrane  plasma membrane  focal adhesion  regulation of transcription from RNA polymerase II promoter  translation  response to stress  response to osmotic stress  signal transduction  signal transduction  cell surface receptor signaling pathway  epidermal growth factor receptor signaling pathway  epidermal growth factor receptor signaling pathway  activation of phospholipase C activity  salivary gland morphogenesis  midgut development  learning or memory  circadian rhythm  cell proliferation  positive regulation of cell proliferation  positive regulation of cell proliferation  cell surface  endosome membrane  magnesium ion homeostasis  regulation of phosphatidylinositol 3-kinase signaling  regulation of phosphatidylinositol 3-kinase signaling  membrane  integral component of membrane  diterpenoid metabolic process  basolateral plasma membrane  apical plasma membrane  single organismal cell-cell adhesion  peptidyl-tyrosine phosphorylation  enzyme binding  protein kinase binding  protein phosphatase binding  cerebral cortex cell migration  AP-2 adaptor complex  nitric-oxide synthase regulator activity  positive regulation of cell growth  lung development  positive regulation of cell migration  clathrin-coated vesicle membrane  ubiquitin protein ligase binding  positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle  early endosome membrane  nuclear membrane  positive regulation of superoxide anion generation  response to cobalamin  response to hydroxyisoflavone  cellular response to reactive oxygen species  positive regulation of catenin import into nucleus  cellular response to drug  peptidyl-tyrosine autophosphorylation  ERBB2 signaling pathway  negative regulation of epidermal growth factor receptor signaling pathway  wound healing  negative regulation of protein catabolic process  positive regulation of phosphorylation  ovulation cycle  hydrogen peroxide metabolic process  identical protein binding  activation of phospholipase A2 activity by calcium-mediated signaling  negative regulation of apoptotic process  receptor complex  positive regulation of MAP kinase activity  positive regulation of GTPase activity  tongue development  membrane raft  synapse  cadherin binding  positive regulation of nitric oxide biosynthetic process  positive regulation of DNA repair  positive regulation of DNA replication  positive regulation of bone resorption  positive regulation of transcription, DNA-templated  positive regulation of vasoconstriction  negative regulation of mitotic cell cycle  positive regulation of transcription from RNA polymerase II promoter  regulation of JNK cascade  protein autophosphorylation  phosphatidylinositol phosphorylation  phosphatidylinositol-4,5-bisphosphate 3-kinase activity  protein heterodimerization activity  phosphatidylinositol-mediated signaling  astrocyte activation  positive regulation of fibroblast proliferation  epidermal growth factor binding  perinuclear region of cytoplasm  digestive tract morphogenesis  positive regulation of smooth muscle cell proliferation  neuron projection morphogenesis  positive regulation of epithelial cell proliferation  positive regulation of inflammatory response  regulation of peptidyl-tyrosine phosphorylation  regulation of nitric-oxide synthase activity  actin filament binding  protein insertion into membrane  response to calcium ion  positive regulation of protein kinase B signaling  positive regulation of synaptic transmission, glutamatergic  morphogenesis of an epithelial fold  membrane organization  eyelid development in camera-type eye  response to UV-A  regulation of ERK1 and ERK2 cascade  positive regulation of ERK1 and ERK2 cascade  positive regulation of ERK1 and ERK2 cascade  Shc-EGFR complex  cellular response to amino acid stimulus  cellular response to mechanical stimulus  cellular response to cadmium ion  cellular response to epidermal growth factor stimulus  cellular response to estradiol stimulus  cellular response to dexamethasone stimulus  liver regeneration  multivesicular body, internal vesicle lumen  positive regulation of blood vessel diameter  positive regulation of protein kinase C activity  negative regulation of ERBB signaling pathway  positive regulation of NIK/NF-kappaB signaling  positive regulation of prolactin secretion  positive regulation of protein localization to plasma membrane  positive regulation of production of miRNAs involved in gene silencing by miRNA  negative regulation of cardiocyte differentiation  regulation of cell motility  
Ontology : EGO-EBIGolgi membrane  MAPK cascade  activation of MAPKK activity  ossification  embryonic placenta development  positive regulation of protein phosphorylation  hair follicle development  glycoprotein binding  chromatin binding  double-stranded DNA binding  MAP kinase kinase kinase activity  protein tyrosine kinase activity  protein tyrosine kinase activity  protein tyrosine kinase activity  protein tyrosine kinase activity  transmembrane receptor protein tyrosine kinase activity  signal transducer, downstream of receptor, with protein tyrosine kinase activity  transmembrane signaling receptor activity  epidermal growth factor-activated receptor activity  epidermal growth factor-activated receptor activity  epidermal growth factor-activated receptor activity  Ras guanyl-nucleotide exchange factor activity  integrin binding  protein binding  calmodulin binding  ATP binding  extracellular space  nucleus  cytoplasm  endosome  endosome  endoplasmic reticulum membrane  plasma membrane  plasma membrane  focal adhesion  regulation of transcription from RNA polymerase II promoter  translation  response to stress  response to osmotic stress  signal transduction  signal transduction  cell surface receptor signaling pathway  epidermal growth factor receptor signaling pathway  epidermal growth factor receptor signaling pathway  activation of phospholipase C activity  salivary gland morphogenesis  midgut development  learning or memory  circadian rhythm  cell proliferation  positive regulation of cell proliferation  positive regulation of cell proliferation  cell surface  endosome membrane  magnesium ion homeostasis  regulation of phosphatidylinositol 3-kinase signaling  regulation of phosphatidylinositol 3-kinase signaling  membrane  integral component of membrane  diterpenoid metabolic process  basolateral plasma membrane  apical plasma membrane  single organismal cell-cell adhesion  peptidyl-tyrosine phosphorylation  enzyme binding  protein kinase binding  protein phosphatase binding  cerebral cortex cell migration  AP-2 adaptor complex  nitric-oxide synthase regulator activity  positive regulation of cell growth  lung development  positive regulation of cell migration  clathrin-coated vesicle membrane  ubiquitin protein ligase binding  positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle  early endosome membrane  nuclear membrane  positive regulation of superoxide anion generation  response to cobalamin  response to hydroxyisoflavone  cellular response to reactive oxygen species  positive regulation of catenin import into nucleus  cellular response to drug  peptidyl-tyrosine autophosphorylation  ERBB2 signaling pathway  negative regulation of epidermal growth factor receptor signaling pathway  wound healing  negative regulation of protein catabolic process  positive regulation of phosphorylation  ovulation cycle  hydrogen peroxide metabolic process  identical protein binding  activation of phospholipase A2 activity by calcium-mediated signaling  negative regulation of apoptotic process  receptor complex  positive regulation of MAP kinase activity  positive regulation of GTPase activity  tongue development  membrane raft  synapse  cadherin binding  positive regulation of nitric oxide biosynthetic process  positive regulation of DNA repair  positive regulation of DNA replication  positive regulation of bone resorption  positive regulation of transcription, DNA-templated  positive regulation of vasoconstriction  negative regulation of mitotic cell cycle  positive regulation of transcription from RNA polymerase II promoter  regulation of JNK cascade  protein autophosphorylation  phosphatidylinositol phosphorylation  phosphatidylinositol-4,5-bisphosphate 3-kinase activity  protein heterodimerization activity  phosphatidylinositol-mediated signaling  astrocyte activation  positive regulation of fibroblast proliferation  epidermal growth factor binding  perinuclear region of cytoplasm  digestive tract morphogenesis  positive regulation of smooth muscle cell proliferation  neuron projection morphogenesis  positive regulation of epithelial cell proliferation  positive regulation of inflammatory response  regulation of peptidyl-tyrosine phosphorylation  regulation of nitric-oxide synthase activity  actin filament binding  protein insertion into membrane  response to calcium ion  positive regulation of protein kinase B signaling  positive regulation of synaptic transmission, glutamatergic  morphogenesis of an epithelial fold  membrane organization  eyelid development in camera-type eye  response to UV-A  regulation of ERK1 and ERK2 cascade  positive regulation of ERK1 and ERK2 cascade  positive regulation of ERK1 and ERK2 cascade  Shc-EGFR complex  cellular response to amino acid stimulus  cellular response to mechanical stimulus  cellular response to cadmium ion  cellular response to epidermal growth factor stimulus  cellular response to estradiol stimulus  cellular response to dexamethasone stimulus  liver regeneration  multivesicular body, internal vesicle lumen  positive regulation of blood vessel diameter  positive regulation of protein kinase C activity  negative regulation of ERBB signaling pathway  positive regulation of NIK/NF-kappaB signaling  positive regulation of prolactin secretion  positive regulation of protein localization to plasma membrane  positive regulation of production of miRNAs involved in gene silencing by miRNA  negative regulation of cardiocyte differentiation  regulation of cell motility  
Pathways : BIOCARTA [Genes]   
Pathways : KEGG   
NDEx NetworkEGFR
Atlas of Cancer Signalling NetworkEGFR
Wikipedia pathwaysEGFR
Orthology - Evolution
OrthoDB1956
GeneTree (enSembl)ENSG00000146648
Phylogenetic Trees/Animal Genes : TreeFamEGFR
HOVERGENP00533
HOGENOMP00533
Homologs : HomoloGeneEGFR
Homology/Alignments : Family Browser (UCSC)EGFR
Gene fusions - Rearrangements
Fusion : MitelmanCAND1/EGFR [12q14.3/7p11.2]  [t(7;12)(p11;q14)]  
Fusion : MitelmanEGFR/ACADM [7p11.2/1p31.1]  [t(1;7)(p31;p11)]  
Fusion : MitelmanEGFR/DYM [7p11.2/18q21.1]  [t(7;18)(p11;q21)]  
Fusion : MitelmanEGFR/ERP44 [7p11.2/9q31.1]  [t(7;9)(p11;q31)]  
Fusion : MitelmanEGFR/GNS [7p11.2/12q14.3]  [t(7;12)(p11;q14)]  
Fusion : MitelmanEGFR/POLD1 [7p11.2/19q13.33]  [t(7;19)(p11;q13)]  
Fusion : MitelmanEGFR/PPM1H [7p11.2/12q14.1]  [t(7;12)(p11;q14)]  
Fusion : MitelmanEGFR/PSPH [7p11.2/7p11.2]  [t(7;7)(p11;p11)]  
Fusion : MitelmanEGFR/PSPHP1 [7p11.2/7p11.2]  [t(7;7)(p11;p11)]  
Fusion : MitelmanEGFR/SEPT14 [7p11.2/7p11.2]  [t(7;7)(p11;p11)]  
Fusion : MitelmanEGFR/VOPP1 [7p11.2/7p11.2]  [t(7;7)(p11;p11)]  
Fusion : MitelmanIGH/EGFR [14q32.33/7p11.2]  [t(7;14)(p11;q32)]  
Fusion : MitelmanMDM2/EGFR [12q15/7p11.2]  [t(7;12)(p11;q15)]  
Fusion : MitelmanSEC61G/EGFR [7p11.2/7p11.2]  [t(7;7)(p11;p11)]  
Fusion: TCGAEGFR 7p11.2 ACADM 1p31.1 HNSC
Fusion: TCGAEGFR 7p11.2 DYM 18q21.1 HNSC
Fusion: TCGAEGFR 7p11.2 ERP44 9q31.1 GBM
Fusion: TCGAEGFR 7p11.2 GNS 12q14.3 GBM
Fusion: TCGAEGFR 7p11.2 PPM1H 12q14.1 GBM
Fusion: TCGAEGFR 7p11.2 SEPT14 7p11.2 GBM HNSC LGG
Fusion: TCGAMDM2 12q15 EGFR 7p11.2 GBM
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEGFR [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EGFR
dbVarEGFR
ClinVarEGFR
1000_GenomesEGFR 
Exome Variant ServerEGFR
ExAC (Exome Aggregation Consortium)EGFR (select the gene name)
Genetic variants : HAPMAP1956
Genomic Variants (DGV)EGFR [DGVbeta]
DECIPHEREGFR [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEGFR 
Mutations
ICGC Data PortalEGFR 
TCGA Data PortalEGFR 
Broad Tumor PortalEGFR
OASIS PortalEGFR [ Somatic mutations - Copy number]
Cancer Gene: CensusEGFR 
Somatic Mutations in Cancer : COSMICEGFR  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEGFR
intOGen PortalEGFR
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
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch EGFR
DgiDB (Drug Gene Interaction Database)EGFR
DoCM (Curated mutations)EGFR (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EGFR (select a term)
intoGenEGFR
Cancer3DEGFR(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM131550    211980    616069   
Orphanet19649    19649    19650    19650    22213    20902   
MedgenEGFR
Genetic Testing Registry EGFR
NextProtP00533 [Medical]
TSGene1956
GENETestsEGFR
Target ValidationEGFR
Huge Navigator EGFR [HugePedia]
snp3D : Map Gene to Disease1956
BioCentury BCIQEGFR
ClinGenEGFR
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1956
Chemical/Pharm GKB GenePA7360
Drug Sensitivity EGFR
Clinical trialEGFR
Miscellaneous
canSAR (ICR)EGFR (select the gene name)
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEGFR
EVEXEGFR
GoPubMedEGFR
iHOPEGFR
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 17:00:13 CEST 2017

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