Atlas of Genetics and Cytogenetics in Oncology and Haematology Home Genes Leukemias Solid Tumours Cancer-Prone Deep Insight Portal Teaching X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA Atlas Journal Atlas Journal versus Atlas Database: the accumulation of the issues of the Journal constitutes the body of the Database/Text-Book. TABLE OF CONTENTS Volume 2, Number 2, Apr-Jun 1998 Previous Issue / Next Issue Genes FGFR1 (Fibroblast Growth Factor Receptor 1) (8p12). Jean-Loup Huret. Atlas Genet Cytogenet Oncol Haematol 1998; 2 (2): 117-125. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/FGFR1113.html LCP1 (lymphocyte cytosolic protein1) (13q14). Sylvie Galiègue-Zouitina. Atlas Genet Cytogenet Oncol Haematol 1998; 2 (2): 126-130. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/LCP1ID95.html MTCP1 (Mature T Cell Proliferation 1) (Xq28). Marc-Henri Stern. Atlas Genet Cytogenet Oncol Haematol 1998; 2 (2): 131-136. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/MTCP1ID89.html NF2 (neurofibromatosis type 2) (22q12.1-12.2) - updated. Jean-Loup Huret. Atlas Genet Cytogenet Oncol Haematol 1998; 2 (2): 137-143. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/NF2117.html MYCN (myc myelocytomatosis viral related oncogene, neuroblastoma derived) (2p24.1). Jean-Loup Huret. Atlas Genet Cytogenet Oncol Haematol 1998; 2 (2): 144-148. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/NMYC112.html POU2AF1 (POU domain, class 2, associating factor 1) (11q23.1). Sylvie Galiègue-Zouitina. Atlas Genet Cytogenet Oncol Haematol 1998; 2 (2): 149-153. [Full Text] [PDF] Atlas Genet Cytogenet Oncol Haematol 1998; 2 (2) I URL : http://AtlasGeneticsOncology.org/Genes/OBF94.html ABCB1 (7q21.2). Franck Viguié. Atlas Genet Cytogenet Oncol Haematol 1998; 2 (2): 154-160. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/PGY1ID105.html TAL1 (T-cell acute leukemia 1) (1p32) - updated. Jean-Loup Huret, Marie Claude Labastie. Atlas Genet Cytogenet Oncol Haematol 1998; 2 (2): 161-165. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/TAL1.html TCL1A (T-cell leukemia/lymphoma 1A) (14q32.1). Marc-Henri Stern. Atlas Genet Cytogenet Oncol Haematol 1998; 2 (2): 166-170. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/TCL1ID66.html TCTA (T-cell leukemia translocation-associated gene) (3p21) - updated. Jean-Loup Huret. Atlas Genet Cytogenet Oncol Haematol 1998; 2 (2): 171-174. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/TCTA.html FIM (fused in myeloproliferative disorders) (13q12). Jean-Loup Huret, Dominique Leroux. Atlas Genet Cytogenet Oncol Haematol 1998; 2 (2): 175-180. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/ZNF198ID114.html Leukaemias t(9;12)(p24;p13). Jean-Loup Huret. Atlas Genet Cytogenet Oncol Haematol 1998; 2 (2): 181-182. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/1122t0912.html del(9q) solely. Franck Viguié. Atlas Genet Cytogenet Oncol Haematol 1998; 2 (2): 183-187. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/del9q.html Essential thrombocythemia; Idiopathic thrombocythemia - updated. Jean-Loup Huret. Atlas Genet Cytogenet Oncol Haematol 1998; 2 (2): 188-189. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/ET.html Acute basophilic leukemia; t(X;6)(p11;q23). Nicole Dastugue. Atlas Genet Cytogenet Oncol Haematol 1998; 2 (2): 190-191. [Full Text] [PDF] Atlas Genet Cytogenet Oncol Haematol 1998; 2 (2) II URL : http://AtlasGeneticsOncology.org/Anomalies/LAbaso1124.html t(5;14)(q33;q32) PDGFRB/TRIP11. Jean-Loup Huret. Atlas Genet Cytogenet Oncol Haematol 1998; 2 (2): 192-193. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/t0514ANL.html t(11;16)(q23;p13). Jean-Loup Huret. Atlas Genet Cytogenet Oncol Haematol 1998; 2 (2): 194-196. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/t1116.html t(16;21)(p11;q22). Christine Pérot. Atlas Genet Cytogenet Oncol Haematol 1998; 2 (2): 197-203. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/t1621.html Solid Tumours Nervous system tumors: Neuroblastoma. Jérome Couturier, Daniel Satgé. Atlas Genet Cytogenet Oncol Haematol 1998; 2 (2): 204-208. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Tumors/neurob5002.html t(16;21)(p11;q22) in Ewing's tumours. Christine Pérot. Atlas Genet Cytogenet Oncol Haematol 1998; 2 (2): 209-214. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Tumors/t1621p11q22EwingID5329.html Cancer Prone Diseases Bannayan-Riley-Ruvalcaba syndrome. Jean-Loup Huret. Atlas Genet Cytogenet Oncol Haematol 1998; 2 (2): 215-218. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Kprones/BannayanID10044.html Bloom syndrome. Jean-Loup Huret. Atlas Genet Cytogenet Oncol Haematol 1998; 2 (2): 219-228. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Kprones/BLO10002.html Dubowitz syndrome. Jean-Loup Huret, Claude Léonard. Atlas Genet Cytogenet Oncol Haematol 1998; 2 (2): 229-230. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Kprones/DUB10016.html Fanconi anaemia. Atlas Genet Cytogenet Oncol Haematol 1998; 2 (2) III Jean-Loup Huret. Atlas Genet Cytogenet Oncol Haematol 1998; 2 (2): 231-237. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Kprones/FA10001.html Deep Insights Case Reports Educational Items © Atlas of Genetics and Cytogenetics in Oncology and Haematology X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA Home Genes Leukemias Solid Tumours Cancer-Prone Deep Insight Portal Teaching For comments and suggestions or contributions, please contact us [email protected]. Atlas Genet Cytogenet Oncol Haematol 1998; 2 (2) IV Atlas of Genetics and Cytogenetics in Oncology and Haematology FGFR1 (Fibroblast Growth Factor Receptor 1) (updated: old version not available) Identity Other BFGFR (basic fibroblast growth factor receptor) names FLT2 (FMS-like tyrosine kinase 2) FLG (FMS-like gene) CEK FGFBR N-SAM Hugo FGFR1 Location 8p12 FGFR1 (8p12) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. Laboratories willing to validate the probes are welcome : contact [email protected] DNA/RNA Transcription 2.7 mRNA Protein Atlas Genet Cytogenet Oncol Haematol 1998; 2 (2) - 117 - Protein Diagram Description 822 amino acids; 100-135 kDa glycoprotein from a 90-115 kDa protein core; tyrosine kinase receptor; contains four major domains: an extracellular domain with 2 or 3 Ig-like loops, a transmembrane domain and an intracellular domain , a juxtamembrane domain, and an intracellular domain composed of the tyrosine kinase domain (two kinase domains interrupted by a short kinase insert), and a C-terminal tail. Localisation plasma membrane Function FGF receptor with tyrosine kinase activity; binding of ligand (FGF)) in association with heparan sulfate proteoglycans induces receptor dimerization, autophosphorylation and signal transduction Homology with other FGFR (FGFR2, FGFR3, and FGFR4) Implicated in Entity stem-cell myeloproliferative disorder associated with chromosomal translocations involving 8p12; to date, seven FGFR1 partners have been described (see below) Disease stem-cell myeloproliferative disorder characterized by T- or B-cell lymphoblastic leukemia/lymphoma, myeloid hyperplasia, and peripheral blood eosinophilia, and it generally progresses to acute myeloid leukemia; specific to the 8p12 chromosomal region Prognosis very poor (median survival: 12 mths) Atlas Genet Cytogenet Oncol Haematol 1998; 2 (2) - 118 - Cytogenetics the 7 translocations are: t(6;8)(q27; p12) involving FOP (FGFR1 Oncogene Partner) t(8;9)(p12;q33) involving CEP110 (Centrosome protein 110) t(8;11)(p12;p15) t(8;12)(p12;q15) t(8;13)(p12;q12 ) involving FIM (Fused In Myeloproliferative disorder also called ZNF198 or RAMP) t(8;17)(p12;q25) t(8;19)(p12;q13.3) additional anomalies: in the t(8;9)(p12;q33): +der(9), +21; in the t(8;13)(p12;q12): +8, +der(13), +21 Hybrid/Mutated 5' FOP - 3' FGFR1 in the t(6;8) Gene 5'CEP110 - FGFR1 in the t(8;9) 5' FIM/ZNF198 - 3' FGFR1 in the t(8;13) Abnormal three fusion transcripts are identified: FOP-FGFR1, CEP110-FGFR1, and Protein FIM-FGFR1; they encode large proteins containing the N-term of either FOP or CEP110, or FIM, and the catalytic domain of FGFR1 at their C- term: N-term leucine-rich region from FOP fused to the catalytic domain of FGFR1 N-term leucine zipper motifs from CEP110 fused to the catalytic domain of FGFR1 N-term zinc fingers from FIM fused to the Tyrosine kinase domain of FGFR1in C-term Oncogenesis constitutive activation of FGFR1 Entity Pfeiffer syndrome (inborn disease) Disease one form of Pfeiffer syndrome, an autosomal dominant craniosynostosis Atlas Genet Cytogenet Oncol Haematol 1998; 2 (2) - 119 - syndrome with broad thumbs and usually no mental deficiency, is due to a mutation in amino acid 252 (Pro252Arg substitution) of FGFR1 Entity Breast cancer Disease gene amplification and overexpression in sporadic breast tumors Breakpoints External links Nomenclature Hugo FGFR1 GDB FGFR1 FGFR1 2260 fibroblast growth factor receptor 1 (fms-related tyrosine Entrez_Gene kinase 2, Pfeiffer syndrome) Cards Atlas FGFR1113 GeneCards FGFR1 Ensembl FGFR1 CancerGene FGFR1 Genatlas FGFR1 GeneLynx FGFR1 eGenome FGFR1 euGene 2260 Atlas Genet Cytogenet Oncol Haematol 1998; 2 (2) - 120 - Genomic and cartography GoldenPath FGFR1 - 8p12 chr8:38389449-38445293 - 8p12 (hg17-May_2004) Ensembl FGFR1 - 8p12 [CytoView] NCBI Genes Cyto Gene