Diagnóstico molecular del retinoblastoma: Epidemiología molecular y consejo genético

Translated title of the contribution: Molecular diagnosis of retinoblastoma: Molecular epidemiology and genetic counseling

Javier Alonso, Itziar Palacios, Ángelo Gámez, Isabel Camino, Helena Frayle, Ibis Menéndez, Milica Kontic, Purificación García-Miguel, Ana Sastre, José Abelairas, Enric Sarret, Constantino Sabado, Aurora Navajas, Mercé Artigas, José M. Indiano, Ana Carbone, Jordi Rosell, Ángel Pestaña

Research output: Contribution to journalArticlepeer-review


BACKGROUND AND OBJECTIVE: Retinoblastoma, a prototype of hereditary cancer, is the most common intraocular tumor in children and a potential cause of blindness from therapeutic eye ablation, second tumors in germ line mutation carriers, and even death when untreated. The molecular scanning of RB1 in search of germ line mutations in 213 retinoblastoma patients from Spain, Cuba, Colombia and Serbia, has led to the detection of 106 mutations whose knowledge is important for genetic counselling and characterization of phenotypic-genotypic relations. PATIENTS AND METHOD: Mutational study (PCR-sequentiation and microsatellites analysis) in patients with retinoblastoma, from Spain, Cuba, Colombia and Serbia. RESULTS: 45% of mutations, including most of the frame shift (FS), missense (MS) and splicing (SP), were new, while all nonsense mutations (NS) corresponded to hypermutable sites in RB1. Germ line mutations were found in 22% of unilateral sporadic patients. The incidence of SP plus MS mutations in this group of patients was greater (p = 0.018) than in bilateral patients. The frequency of SP mutations was higher (p = 0.0003) in Spain and France than in Germany and United Kingdom, while the incidence of NS mutations was lower (p = 0.0006). SP mutations were associated with the low penetrance phenotype and were also overrepresented (p = 0.018) in patients with delayed retinoblastoma onset. CONCLUSIONS: Mutational scanning of unilateral patients is important for genetic counselling and may help decipher the molecular mechanisms leading to low penetrance or expressivity. The functional characterization of mutations associated with low-penetrance or expressivity phenotypes and the molecular classification of tumors using multiple expression profiling is important for a better understanding of the retinoblastoma pathogenesis.

Translated title of the contributionMolecular diagnosis of retinoblastoma: Molecular epidemiology and genetic counseling
Original languageSpanish
Pages (from-to)401-405
Number of pages5
JournalMedicina Clinica
Issue number11
Publication statusPublished - Apr 25 2006


  • Genetic counselling
  • Hereditary
  • Molecular epidemiology
  • Mutations
  • Retinoblastoma

ASJC Scopus subject areas

  • Medicine(all)


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