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Research Reports

Spectrum of RB1 Mutations in Argentine Patients: 20-years Experience in the Molecular Diagnosis of Retinoblastoma

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Pages 189-198 | Received 29 Aug 2012, Accepted 29 Nov 2012, Published online: 10 Jan 2013

REFERENCES

  • Vogel F. Genetics of retinoblastoma. Hum Genet 1979;52:1–54
  • Abramson DH, Beaverson K, Sangani P, et al. Screening for retinoblastoma: presenting signs as prognosticators of patient and ocular survival. Pediatrics 2003;112:1248–1255
  • Corson TW, Gallie BL. One hit, two hits, three hits, more? Genomic changes in the development of retinoblastoma. Genes, Chromosomes Cancer 2007;46:617–634
  • Zhang J, Benavente C, McEvoy J, et al. A novel retinoblastoma therapy from genomic and epigenetic analyses. Nature 2012;481:329–334
  • Dimaras H. The molecular progression from retina through retinoma to retinoblastoma and the role of the p75NTR neurotrophin receptor. Toronto: Department of Molecular and Medical Genetics. University of Toronto. 2007; p. 158
  • Stiller CA, Parkin DM. Geographic and ethnic variation in the incidence of childhood cancer. Br Med Bull 1996;52:682–703
  • Orjuela MA, Titievsky L, Liu X, et al. Fruit and vegetable intake during pregnancy and risk for development of sporadic retinoblastoma. Cancer Epidemiol Biomarkers Prev 2005;14:1433–1440
  • Chantada GL, Qaddoumi I, Canturk S, et al. Strategies to manage retinoblastoma in developing countries. Pediatr Blood Cancer 2011;56:341–348
  • Dalamon V, Surace E, Borelina D, et al. Detection of mutations in Argentine retinoblastoma patients by segregation of polymorphism, exon analysis and cytogenetic test. Ophthalmic Res 2001;33:336–339
  • Fernandez C, Repetto K, Dalamon V, et al. RB1 germ-line deletions in Argentine retinoblastoma patients. Mol Diag Ther 2007;11:55–61
  • Toguchida J, McGee TL, Paterson JC, et al. Complete genomic sequence of the human retinoblastoma susceptibility gene. Genomics 1993;17:535–543
  • Szijan I, Lohmann DR, Parma DL, et al. Identification of RB1 germ-line mutations in Argentinian families with sporadic bilateral retinoblastoma. J Med Genet 1995;32:475–479
  • Dalamon V, Surace E, Giliberto F, et al. Detection of germline mutations in Argentine retinoblastoma patients: low and full penetrance retinoblastoma caused by the same germline truncating mutation. J Biochem Mol Biol 2004;37:246–253
  • den Dunnen JT, Antonarakis SE. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mut 2000;15:7–12
  • Retinoblastoma Mutation database 2011. The retinoblastoma genetics website: http://rb1-lovd.d-lohmann.de
  • Abramson DH. The diagnosis of retinoblastoma. Bull NY Acad Med 1988;64:283–317
  • Houdayer C, Gauthier-Villars M, et al. Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF. Hum Mut 2004;23:193–202
  • Parsam VD, Kannabiran C, Honavar SG, et al. A comprehensive, sensitive and economical approach for the detection of mutations in RB1 gene in retinoblastoma. J Genet 2009;88:517–527
  • Krawczak M, Reiss J, Cooper DN. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 1992;90:41–54
  • Lohmann DR, Brandt B, Hopping W, et al. Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma. Hum Genet 1994;94:349–354
  • DiCiommo D, Gallie BL, Bremner R. Retinoblastoma: the disease, gene and protein provide critical leads to understand cancer. Semin Cancer Biol 2000;10:255–269
  • Richter S, Vandezande K, Chen N, et al. Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma. Am J Hum Genet 2003;72:253–269
  • Alonso J, Palacios I, Gamez A, et al. Diagnóstico molecular del retinoblastoma: epidemiología molecular y consejo genético. Med Clin (Barc) 2006;126:401–405
  • Taylor M, Dehainault C, Desjardins L, et al. Genotype-phenotype correlation in hereditary familial retinoblastoma. Hum Mut 2007;28:284–293
  • Sakai T, Ohtani N, MacGee TL, et al. Oncogenic germ-line mutations in Sp1 and ATF sites in the human retinoblastoma gene. Letters to Nature 1991;353:83–86
  • Albrecht P, Ansperger-Rescher B, Schüler A, et al. Spectrum of gross deletions and insertions in the RB1 gene in patients with retinoblastoma and association with phenotypic expression. Hum Mut 2005;26:437–445

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