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Le rétinoblastome: Le modèle de la prédisposition génétique

  • Marion Gauthier-Villars

Abstrait

Le rêtinoblastome est une tumeur maligne embryonnaire de l’enfant développée aux dépens des cônes rétiniens; son incidence est de 1 pour 15 000 à 20 000 naissances. Dans 90 % des cas, le diagnostic est effectué avant l’âge de 3 ans.

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Références

  1. 1.
    Knudson AG (1971) Mutation and cancer: statistical study of retinoblastoma. Proc Nat Acad Sci 68: 820–3PubMedCrossRefGoogle Scholar
  2. 2.
    Comings DE (1973) A general theory of carcinogenesis. Proc Natl Acad Sci USA 70: 3324–8PubMedCrossRefGoogle Scholar
  3. 3.
    Baud O, Cormier-Daire V, Lyonnet S et al. (1999) Dysmorphic phenotype and neurological impairment in 22 retinoblastoma patients with constitutional cytogenetic 13q deletion. Clin Genet 55: 478–82PubMedCrossRefGoogle Scholar
  4. 4.
    Friend SH, Bernards R, Rogelj S et al. (1986) A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. Nature 323: 643–6PubMedCrossRefGoogle Scholar
  5. 5.
    Houdayer C, Gauthier-Villars M, Laugé A et al. (2004) Comprehensive screening for constitutional RBI mutations by DHPLC and QMPSE Hum Mutat 23: 193–202PubMedCrossRefGoogle Scholar
  6. 6.
    Taylor M, Dehainault C, Desjardins L et al. (2007) Genotype-phenotype correlations in hereditary familial retinoblastoma. Hum Mutat 28: 284–93PubMedCrossRefGoogle Scholar
  7. 7.
    Draper GJ, Sanders BM, Kingston JE (1986) Second primary neoplasms in patients with retinoblastoma. Br J Cancer 53: 661–71PubMedGoogle Scholar
  8. 8.
    Fletcher O, Easton D, Anderson K et al. (2004) Lifetime risks of common cancers among retinoblastoma survivors. J Natl Cancer Inst 96: 357–63PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag France 2009

Authors and Affiliations

  • Marion Gauthier-Villars
    • 1
  1. 1.Service de génétique oncologiqueInstitut CurieParis Cedex 05

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