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Familial nervous system tumour syndromes

Written2001-01Anne Marie Capodano
Laboratoire de Cytogénétique Oncologique, Hôpital de la Timone, 264 rue Saint Pierre, 13005 Marseille, France

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Identity

Atlas_Id 10067
Genes implicated inAPC   CHEK2   MLH1   MHS6   MSH2   NF1   NF2   PMS2   PTCH1   PTCH2   PTEN   SDHB   SDHD   SUFU   TP53   TSC1   TSC2   VHL  
Inheritance eight genetic syndromes are associated with nervous system tumours; these are:
  • Neufibromatosis 1 (NF1)
  • Neufibromatosis 2 (NF2)
  • Tuberous sclerosis
  • Turcot syndrome
  • Von Hippel-Lindau syndrome
  • Li-Fraumeni syndrome
  • Gorlin syndrome
  • Cowden syndrome
  • Clinics

    Neoplastic risk
  • Neufibromatosis 1 (NF1):
  • Neufibromatosis 2 (NF2):
  • Tuberous sclerosis:
    • Nervous System Tumors Astrocytomas, Subependymal giant cell tumors
    • Other tumors Cutaneous angio-fibroma, Cardiac rhabdomyomas, Adenomatous polyps of duodenum, Renal hamartomatous tumors, Cysts of the lung and kidney.
    • Genes TSC1 and TSC2 located in 9q34 and 16p13 respectively
  • Turcot syndrome:
  • Von Hippel-Lindau syndrome:
  • Li-Fraumeni syndrome:
  • Gorlin syndrome:
  • Cowden syndrome:
    • Nervous System Tumors Dysplastic gangliocytoma of the cerebellum
    • Other tumors Hamartomatous polyps of the colon, Thyroid neoplasms, Breast carcinoma
    • Genes PTEN located in 10q23
  • Bibliography

    Familial partial monosomy 7 and myelodysplasia: different parental origin of the monosomy 7 suggests action of a mutator gene.
    Minelli A, Maserati E, Giudici G, Tosi S, Olivieri C, Bonvini L, De Filippi P, Biondi A, Lo Curto F, Pasquali F, Danesino C
    Cancer genetics and cytogenetics. 2001 ; 124 (2) : 147-151.
    PMID 11172908
     

    Citation

    This paper should be referenced as such :
    Capodano, AM
    Familial nervous system tumour syndromes
    Atlas Genet Cytogenet Oncol Haematol. 2001;5(2):141-141.
    Free journal version : [ pdf ]   [ DOI ]
    On line version : http://AtlasGeneticsOncology.org/Tumors/FamilNervousCanID10067.html


    External links

    OMIM-
    OrphanetGenetic central nervous system and retinal vascular disease
    Genes implicated inAPC   [ Atlas ]   [ Entrez ]  [ LOVD ]  [ GeneReviews ]  
    Genes implicated inCHEK2   [ Atlas ]   [ Entrez ]  [ LOVD ]  [ GeneReviews ]  
    Genes implicated inMLH1   [ Atlas ]   [ Entrez ]  [ LOVD ]  [ GeneReviews ]  
    Genes implicated inMHS6   [ Atlas ]   [ Entrez ]  [ LOVD ]  [ GeneReviews ]  
    Genes implicated inMSH2   [ Atlas ]   [ Entrez ]  [ LOVD ]  [ GeneReviews ]  
    Genes implicated inNF1   [ Atlas ]   [ Entrez ]  [ LOVD ]  [ GeneReviews ]  
    Genes implicated inNF2   [ Atlas ]   [ Entrez ]  [ LOVD ]  [ GeneReviews ]  
    Genes implicated inPMS2   [ Atlas ]   [ Entrez ]  [ LOVD ]  [ GeneReviews ]  
    Genes implicated inPTCH1   [ Atlas ]   [ Entrez ]  [ LOVD ]  [ GeneReviews ]  
    Genes implicated inPTCH2   [ Atlas ]   [ Entrez ]  [ LOVD ]  [ GeneReviews ]  
    Genes implicated inPTEN   [ Atlas ]   [ Entrez ]  [ LOVD ]  [ GeneReviews ]  
    Genes implicated inSDHB   [ Atlas ]   [ Entrez ]  [ LOVD ]  [ GeneReviews ]  
    Genes implicated inSDHD   [ Atlas ]   [ Entrez ]  [ LOVD ]  [ GeneReviews ]  
    Genes implicated inSUFU   [ Atlas ]   [ Entrez ]  [ LOVD ]  [ GeneReviews ]  
    Genes implicated inTP53   [ Atlas ]   [ Entrez ]  [ LOVD ]  [ GeneReviews ]  
    Genes implicated inTSC1   [ Atlas ]   [ Entrez ]  [ LOVD ]  [ GeneReviews ]  
    Genes implicated inTSC2   [ Atlas ]   [ Entrez ]  [ LOVD ]  [ GeneReviews ]  
    Genes implicated inVHL   [ Atlas ]   [ Entrez ]  [ LOVD ]  [ GeneReviews ]  

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