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editorial
. 1991 Mar;63(3):333–336. doi: 10.1038/bjc.1991.79

The genetics of retinoblastoma.

J K Cowell
PMCID: PMC1971872  PMID: 2003971

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Abramson D. H., Ellsworth R. M., Kitchin F. D., Tung G. Second nonocular tumors in retinoblastoma survivors. Are they radiation-induced? Ophthalmology. 1984 Nov;91(11):1351–1355. doi: 10.1016/s0161-6420(84)34127-6. [DOI] [PubMed] [Google Scholar]
  2. Bookstein R., Lai C. C., To H., Lee W. H. PCR-based detection of a polymorphic BamHI site in intron 1 of the human retinoblastoma (RB) gene. Nucleic Acids Res. 1990 Mar 25;18(6):1666–1666. doi: 10.1093/nar/18.6.1666. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Bookstein R., Lee E. Y., To H., Young L. J., Sery T. W., Hayes R. C., Friedmann T., Lee W. H. Human retinoblastoma susceptibility gene: genomic organization and analysis of heterozygous intragenic deletion mutants. Proc Natl Acad Sci U S A. 1988 Apr;85(7):2210–2214. doi: 10.1073/pnas.85.7.2210. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Cavenee W. K., Dryja T. P., Phillips R. A., Benedict W. F., Godbout R., Gallie B. L., Murphree A. L., Strong L. C., White R. L. Expression of recessive alleles by chromosomal mechanisms in retinoblastoma. 1983 Oct 27-Nov 2Nature. 305(5937):779–784. doi: 10.1038/305779a0. [DOI] [PubMed] [Google Scholar]
  5. Cavenee W. K., Hansen M. F., Nordenskjold M., Kock E., Maumenee I., Squire J. A., Phillips R. A., Gallie B. L. Genetic origin of mutations predisposing to retinoblastoma. Science. 1985 Apr 26;228(4698):501–503. doi: 10.1126/science.3983638. [DOI] [PubMed] [Google Scholar]
  6. Cowell J. K., Hungerford J., Rutland P., Jay M. Genetic and cytogenetic analysis of patients showing reduced esterase-D levels and mental retardation from a survey of 500 individuals with retinoblastoma. Ophthalmic Paediatr Genet. 1989 Jun;10(2):117–127. doi: 10.3109/13816818909088352. [DOI] [PubMed] [Google Scholar]
  7. Cowell J. K., Jay M., Rutland P., Hungerford J. An assessment of the usefulness of electrophoretic variants of esterase-D in the antenatal diagnosis of retinoblastoma in the United Kingdom. Br J Cancer. 1987 Jun;55(6):661–664. doi: 10.1038/bjc.1987.135. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Cowell J. K., Rutland P., Hungerford J., Jay M. Deletion of chromosome region 13q14 is transmissible and does not always predispose to retinoblastoma. Hum Genet. 1988 Sep;80(1):43–45. doi: 10.1007/BF00451453. [DOI] [PubMed] [Google Scholar]
  9. Draper G. J., Sanders B. M., Kingston J. E. Second primary neoplasms in patients with retinoblastoma. Br J Cancer. 1986 May;53(5):661–671. doi: 10.1038/bjc.1986.110. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Dryja T. P., Rapaport J. M., Joyce J. M., Petersen R. A. Molecular detection of deletions involving band q14 of chromosome 13 in retinoblastomas. Proc Natl Acad Sci U S A. 1986 Oct;83(19):7391–7394. doi: 10.1073/pnas.83.19.7391. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Dunn J. M., Phillips R. A., Becker A. J., Gallie B. L. Identification of germline and somatic mutations affecting the retinoblastoma gene. Science. 1988 Sep 30;241(4874):1797–1800. doi: 10.1126/science.3175621. [DOI] [PubMed] [Google Scholar]
  12. Dyson N., Howley P. M., Münger K., Harlow E. The human papilloma virus-16 E7 oncoprotein is able to bind to the retinoblastoma gene product. Science. 1989 Feb 17;243(4893):934–937. doi: 10.1126/science.2537532. [DOI] [PubMed] [Google Scholar]
  13. Friend S. H., Bernards R., Rogelj S., Weinberg R. A., Rapaport J. M., Albert D. M., Dryja T. P. A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. Nature. 1986 Oct 16;323(6089):643–646. doi: 10.1038/323643a0. [DOI] [PubMed] [Google Scholar]
  14. Friend S. H., Horowitz J. M., Gerber M. R., Wang X. F., Bogenmann E., Li F. P., Weinberg R. A. Deletions of a DNA sequence in retinoblastomas and mesenchymal tumors: organization of the sequence and its encoded protein. Proc Natl Acad Sci U S A. 1987 Dec;84(24):9059–9063. doi: 10.1073/pnas.84.24.9059. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Fung Y. K., Murphree A. L., T'Ang A., Qian J., Hinrichs S. H., Benedict W. F. Structural evidence for the authenticity of the human retinoblastoma gene. Science. 1987 Jun 26;236(4809):1657–1661. doi: 10.1126/science.2885916. [DOI] [PubMed] [Google Scholar]
  16. Gallie B. L., Ellsworth R. M., Abramson D. H., Phillips R. A. Retinoma: spontaneous regression of retinoblastoma or benign manifestation of the mutation? Br J Cancer. 1982 Apr;45(4):513–521. doi: 10.1038/bjc.1982.87. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Gallie B. L., Holmes W., Phillips R. A. Reproducible growth in tissue culture of retinoblastoma tumor specimens. Cancer Res. 1982 Jan;42(1):301–305. [PubMed] [Google Scholar]
  18. Goddard A. D., Balakier H., Canton M., Dunn J., Squire J., Reyes E., Becker A., Phillips R. A., Gallie B. L. Infrequent genomic rearrangement and normal expression of the putative RB1 gene in retinoblastoma tumors. Mol Cell Biol. 1988 May;8(5):2082–2088. doi: 10.1128/mcb.8.5.2082. [DOI] [PMC free article] [PubMed] [Google Scholar]
  19. Harbour J. W., Lai S. L., Whang-Peng J., Gazdar A. F., Minna J. D., Kaye F. J. Abnormalities in structure and expression of the human retinoblastoma gene in SCLC. Science. 1988 Jul 15;241(4863):353–357. doi: 10.1126/science.2838909. [DOI] [PMC free article] [PubMed] [Google Scholar]
  20. Higgins M. J., Hansen M. F., Cavenee W. K., Lalande M. Molecular detection of chromosomal translocations that disrupt the putative retinoblastoma susceptibility locus. Mol Cell Biol. 1989 Jan;9(1):1–5. doi: 10.1128/mcb.9.1.1. [DOI] [PMC free article] [PubMed] [Google Scholar]
  21. Horowitz J. M., Yandell D. W., Park S. H., Canning S., Whyte P., Buchkovich K., Harlow E., Weinberg R. A., Dryja T. P. Point mutational inactivation of the retinoblastoma antioncogene. Science. 1989 Feb 17;243(4893):937–940. doi: 10.1126/science.2521957. [DOI] [PubMed] [Google Scholar]
  22. Hu Q. J., Dyson N., Harlow E. The regions of the retinoblastoma protein needed for binding to adenovirus E1A or SV40 large T antigen are common sites for mutations. EMBO J. 1990 Apr;9(4):1147–1155. doi: 10.1002/j.1460-2075.1990.tb08221.x. [DOI] [PMC free article] [PubMed] [Google Scholar]
  23. Huang H. J., Yee J. K., Shew J. Y., Chen P. L., Bookstein R., Friedmann T., Lee E. Y., Lee W. H. Suppression of the neoplastic phenotype by replacement of the RB gene in human cancer cells. Science. 1988 Dec 16;242(4885):1563–1566. doi: 10.1126/science.3201247. [DOI] [PubMed] [Google Scholar]
  24. Knudson A. G., Jr Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci U S A. 1971 Apr;68(4):820–823. doi: 10.1073/pnas.68.4.820. [DOI] [PMC free article] [PubMed] [Google Scholar]
  25. LELE K. P., PENROSE L. S., STALLARD H. B. CHROMOSOME DELETION IN A CASE OF RETINOBLASTOMA. Ann Hum Genet. 1963 Nov;27:171–174. doi: 10.1111/j.1469-1809.1963.tb00209.x. [DOI] [PubMed] [Google Scholar]
  26. Lalande M., Dryja T. P., Schreck R. R., Shipley J., Flint A., Latt S. A. Isolation of human chromosome 13-specific DNA sequences cloned from flow sorted chromosomes and potentially linked to the retinoblastoma locus. Cancer Genet Cytogenet. 1984 Dec;13(4):283–295. doi: 10.1016/0165-4608(84)90073-6. [DOI] [PubMed] [Google Scholar]
  27. Lee E. Y., To H., Shew J. Y., Bookstein R., Scully P., Lee W. H. Inactivation of the retinoblastoma susceptibility gene in human breast cancers. Science. 1988 Jul 8;241(4862):218–221. doi: 10.1126/science.3388033. [DOI] [PubMed] [Google Scholar]
  28. Lee W. H., Bookstein R., Hong F., Young L. J., Shew J. Y., Lee E. Y. Human retinoblastoma susceptibility gene: cloning, identification, and sequence. Science. 1987 Mar 13;235(4794):1394–1399. doi: 10.1126/science.3823889. [DOI] [PubMed] [Google Scholar]
  29. Lee W. H., Shew J. Y., Hong F. D., Sery T. W., Donoso L. A., Young L. J., Bookstein R., Lee E. Y. The retinoblastoma susceptibility gene encodes a nuclear phosphoprotein associated with DNA binding activity. Nature. 1987 Oct 15;329(6140):642–645. doi: 10.1038/329642a0. [DOI] [PubMed] [Google Scholar]
  30. McGee T. L., Yandell D. W., Dryja T. P. Structure and partial genomic sequence of the human retinoblastoma susceptibility gene. Gene. 1989 Aug 1;80(1):119–128. doi: 10.1016/0378-1119(89)90256-4. [DOI] [PubMed] [Google Scholar]
  31. Mihara K., Cao X. R., Yen A., Chandler S., Driscoll B., Murphree A. L., T'Ang A., Fung Y. K. Cell cycle-dependent regulation of phosphorylation of the human retinoblastoma gene product. Science. 1989 Dec 8;246(4935):1300–1303. doi: 10.1126/science.2588006. [DOI] [PubMed] [Google Scholar]
  32. Mitchell C. D., Cowell J. K. Predisposition to retinoblastoma due to a translocation within the 4.7R locus. Oncogene. 1989 Feb;4(2):253–257. [PubMed] [Google Scholar]
  33. Mitchell C., Nicolaides K., Kingston J., Hungerford J., Jay M., Cowell J. Prenatal exclusion of hereditary retinoblastoma. Lancet. 1988 Apr 9;1(8589):826–826. doi: 10.1016/s0140-6736(88)91687-x. [DOI] [PubMed] [Google Scholar]
  34. Onadim Z. O., Mitchell C. D., Rutland P. C., Buckle B. G., Jay M., Hungerford J. L., Harper K., Cowell J. K. Application of intragenic DNA probes in prenatal screening for retinoblastoma gene carriers in the United Kingdom. Arch Dis Child. 1990 Jul;65(7 Spec No):651–656. doi: 10.1136/adc.65.7_spec_no.651. [DOI] [PMC free article] [PubMed] [Google Scholar]
  35. Scheffer H., te Meerman G. J., Kruize Y. C., van den Berg A. H., Penninga D. P., Tan K. E., der Kinderen D. J., Buys C. H. Linkage analysis of families with hereditary retinoblastoma: nonpenetrance of mutation, revealed by combined use of markers within and flanking the RB1 gene. Am J Hum Genet. 1989 Aug;45(2):252–260. [PMC free article] [PubMed] [Google Scholar]
  36. Sparkes R. S., Murphree A. L., Lingua R. W., Sparkes M. C., Field L. L., Funderburk S. J., Benedict W. F. Gene for hereditary retinoblastoma assigned to human chromosome 13 by linkage to esterase D. Science. 1983 Feb 25;219(4587):971–973. doi: 10.1126/science.6823558. [DOI] [PubMed] [Google Scholar]
  37. Toguchida J., Ishizaki K., Sasaki M. S., Ikenaga M., Sugimoto M., Kotoura Y., Yamamuro T. Chromosomal reorganization for the expression of recessive mutation of retinoblastoma susceptibility gene in the development of osteosarcoma. Cancer Res. 1988 Jul 15;48(14):3939–3943. [PubMed] [Google Scholar]
  38. Whyte P., Buchkovich K. J., Horowitz J. M., Friend S. H., Raybuck M., Weinberg R. A., Harlow E. Association between an oncogene and an anti-oncogene: the adenovirus E1A proteins bind to the retinoblastoma gene product. Nature. 1988 Jul 14;334(6178):124–129. doi: 10.1038/334124a0. [DOI] [PubMed] [Google Scholar]
  39. Wiggs J., Nordenskjöld M., Yandell D., Rapaport J., Grondin V., Janson M., Werelius B., Petersen R., Craft A., Riedel K. Prediction of the risk of hereditary retinoblastoma, using DNA polymorphisms within the retinoblastoma gene. N Engl J Med. 1988 Jan 21;318(3):151–157. doi: 10.1056/NEJM198801213180305. [DOI] [PubMed] [Google Scholar]
  40. Wilson W. G., Campochiaro P. A., Conway B. P., Carter B. T., Sudduth K. W., Watson B. A., Sparkes R. S. Deletion (13)(q14.1q14.3) in two generations: variability of ocular manifestations and definition of the phenotype. Am J Med Genet. 1987 Nov;28(3):675–683. doi: 10.1002/ajmg.1320280315. [DOI] [PubMed] [Google Scholar]
  41. Windle J. J., Albert D. M., O'Brien J. M., Marcus D. M., Disteche C. M., Bernards R., Mellon P. L. Retinoblastoma in transgenic mice. Nature. 1990 Feb 15;343(6259):665–669. doi: 10.1038/343665a0. [DOI] [PubMed] [Google Scholar]
  42. Yandell D. W., Campbell T. A., Dayton S. H., Petersen R., Walton D., Little J. B., McConkie-Rosell A., Buckley E. G., Dryja T. P. Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling. N Engl J Med. 1989 Dec 21;321(25):1689–1695. doi: 10.1056/NEJM198912213212501. [DOI] [PubMed] [Google Scholar]
  43. Yandell D. W., Dryja T. P. Detection of DNA sequence polymorphisms by enzymatic amplification and direct genomic sequencing. Am J Hum Genet. 1989 Oct;45(4):547–555. [PMC free article] [PubMed] [Google Scholar]
  44. Yunis J. J., Ramsay N. Retinoblastoma and subband deletion of chromosome 13. Am J Dis Child. 1978 Feb;132(2):161–163. doi: 10.1001/archpedi.1978.02120270059012. [DOI] [PubMed] [Google Scholar]
  45. Zhu X. P., Dunn J. M., Phillips R. A., Goddard A. D., Paton K. E., Becker A., Gallie B. L. Preferential germline mutation of the paternal allele in retinoblastoma. Nature. 1989 Jul 27;340(6231):312–313. doi: 10.1038/340312a0. [DOI] [PubMed] [Google Scholar]

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