Logo of brjcancerBJC HomepageBJC Advance online publicationBJC Current IssueSubmitting an article to BJCWeb feeds
Br J Cancer. 1991 Mar; 63(3): 333–336.
PMCID: PMC1971872

The genetics of retinoblastoma.

Full text

Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (917K), or click on a page image below to browse page by page. Links to PubMed are also available for Selected References.

Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Abramson DH, Ellsworth RM, Kitchin FD, Tung G. Second nonocular tumors in retinoblastoma survivors. Are they radiation-induced? Ophthalmology. 1984 Nov;91(11):1351–1355. [PubMed]
  • Bookstein R, Lai CC, To H, Lee WH. 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. [PMC free article] [PubMed]
  • Bookstein R, Lee EY, To H, Young LJ, Sery TW, Hayes RC, Friedmann T, Lee WH. 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. [PMC free article] [PubMed]
  • Cavenee WK, Dryja TP, Phillips RA, Benedict WF, Godbout R, Gallie BL, Murphree AL, Strong LC, White RL. Expression of recessive alleles by chromosomal mechanisms in retinoblastoma. Nature. 305(5937):779–784. [PubMed]
  • Cavenee WK, Hansen MF, Nordenskjold M, Kock E, Maumenee I, Squire JA, Phillips RA, Gallie BL. Genetic origin of mutations predisposing to retinoblastoma. Science. 1985 Apr 26;228(4698):501–503. [PubMed]
  • Cowell JK, 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. [PubMed]
  • Cowell JK, 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. [PMC free article] [PubMed]
  • Cowell JK, 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. [PubMed]
  • Draper GJ, Sanders BM, Kingston JE. Second primary neoplasms in patients with retinoblastoma. Br J Cancer. 1986 May;53(5):661–671. [PMC free article] [PubMed]
  • Dryja TP, Rapaport JM, Joyce JM, Petersen RA. 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. [PMC free article] [PubMed]
  • Dunn JM, Phillips RA, Becker AJ, Gallie BL. Identification of germline and somatic mutations affecting the retinoblastoma gene. Science. 1988 Sep 30;241(4874):1797–1800. [PubMed]
  • Dyson N, Howley PM, 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. [PubMed]
  • Friend SH, Bernards R, Rogelj S, Weinberg RA, Rapaport JM, Albert DM, Dryja TP. A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. Nature. 1986 Oct 16;323(6089):643–646. [PubMed]
  • Friend SH, Horowitz JM, Gerber MR, Wang XF, Bogenmann E, Li FP, Weinberg RA. 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. [PMC free article] [PubMed]
  • Fung YK, Murphree AL, T'Ang A, Qian J, Hinrichs SH, Benedict WF. Structural evidence for the authenticity of the human retinoblastoma gene. Science. 1987 Jun 26;236(4809):1657–1661. [PubMed]
  • Gallie BL, Ellsworth RM, Abramson DH, Phillips RA. Retinoma: spontaneous regression of retinoblastoma or benign manifestation of the mutation? Br J Cancer. 1982 Apr;45(4):513–521. [PMC free article] [PubMed]
  • Gallie BL, Holmes W, Phillips RA. Reproducible growth in tissue culture of retinoblastoma tumor specimens. Cancer Res. 1982 Jan;42(1):301–305. [PubMed]
  • Goddard AD, Balakier H, Canton M, Dunn J, Squire J, Reyes E, Becker A, Phillips RA, Gallie BL. Infrequent genomic rearrangement and normal expression of the putative RB1 gene in retinoblastoma tumors. Mol Cell Biol. 1988 May;8(5):2082–2088. [PMC free article] [PubMed]
  • Harbour JW, Lai SL, Whang-Peng J, Gazdar AF, Minna JD, Kaye FJ. Abnormalities in structure and expression of the human retinoblastoma gene in SCLC. Science. 1988 Jul 15;241(4863):353–357. [PubMed]
  • Higgins MJ, Hansen MF, Cavenee WK, Lalande M. Molecular detection of chromosomal translocations that disrupt the putative retinoblastoma susceptibility locus. Mol Cell Biol. 1989 Jan;9(1):1–5. [PMC free article] [PubMed]
  • Horowitz JM, Yandell DW, Park SH, Canning S, Whyte P, Buchkovich K, Harlow E, Weinberg RA, Dryja TP. Point mutational inactivation of the retinoblastoma antioncogene. Science. 1989 Feb 17;243(4893):937–940. [PubMed]
  • Hu QJ, 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. [PMC free article] [PubMed]
  • Huang HJ, Yee JK, Shew JY, Chen PL, Bookstein R, Friedmann T, Lee EY, Lee WH. Suppression of the neoplastic phenotype by replacement of the RB gene in human cancer cells. Science. 1988 Dec 16;242(4885):1563–1566. [PubMed]
  • Knudson AG., Jr Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci U S A. 1971 Apr;68(4):820–823. [PMC free article] [PubMed]
  • Lalande M, Dryja TP, Schreck RR, Shipley J, Flint A, Latt SA. 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. [PubMed]
  • Lee EY, To H, Shew JY, Bookstein R, Scully P, Lee WH. Inactivation of the retinoblastoma susceptibility gene in human breast cancers. Science. 1988 Jul 8;241(4862):218–221. [PubMed]
  • Lee WH, Bookstein R, Hong F, Young LJ, Shew JY, Lee EY. Human retinoblastoma susceptibility gene: cloning, identification, and sequence. Science. 1987 Mar 13;235(4794):1394–1399. [PubMed]
  • Lee WH, Shew JY, Hong FD, Sery TW, Donoso LA, Young LJ, Bookstein R, Lee EY. The retinoblastoma susceptibility gene encodes a nuclear phosphoprotein associated with DNA binding activity. Nature. 1987 Oct 15;329(6140):642–645. [PubMed]
  • McGee TL, Yandell DW, Dryja TP. Structure and partial genomic sequence of the human retinoblastoma susceptibility gene. Gene. 1989 Aug 1;80(1):119–128. [PubMed]
  • Mihara K, Cao XR, Yen A, Chandler S, Driscoll B, Murphree AL, T'Ang A, Fung YK. Cell cycle-dependent regulation of phosphorylation of the human retinoblastoma gene product. Science. 1989 Dec 8;246(4935):1300–1303. [PubMed]
  • 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. [PubMed]
  • Mitchell CD, Cowell JK. Predisposition to retinoblastoma due to a translocation within the 4.7R locus. Oncogene. 1989 Feb;4(2):253–257. [PubMed]
  • Onadim ZO, Mitchell CD, Rutland PC, Buckle BG, Jay M, Hungerford JL, Harper K, Cowell JK. 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. [PMC free article] [PubMed]
  • Scheffer H, te Meerman GJ, Kruize YC, van den Berg AH, Penninga DP, Tan KE, der Kinderen DJ, Buys CH. 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]
  • Sparkes RS, Murphree AL, Lingua RW, Sparkes MC, Field LL, Funderburk SJ, Benedict WF. Gene for hereditary retinoblastoma assigned to human chromosome 13 by linkage to esterase D. Science. 1983 Feb 25;219(4587):971–973. [PubMed]
  • Toguchida J, Ishizaki K, Sasaki MS, 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]
  • Whyte P, Buchkovich KJ, Horowitz JM, Friend SH, Raybuck M, Weinberg RA, 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. [PubMed]
  • Wiggs J, Nordenskjöld M, Yandell D, Rapaport J, Grondin V, Janson M, Werelius B, Petersen R, Craft A, Riedel K, et al. 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. [PubMed]
  • Wilson WG, Campochiaro PA, Conway BP, Carter BT, Sudduth KW, Watson BA, Sparkes RS. 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. [PubMed]
  • Windle JJ, Albert DM, O'Brien JM, Marcus DM, Disteche CM, Bernards R, Mellon PL. Retinoblastoma in transgenic mice. Nature. 1990 Feb 15;343(6259):665–669. [PubMed]
  • Yandell DW, Campbell TA, Dayton SH, Petersen R, Walton D, Little JB, McConkie-Rosell A, Buckley EG, Dryja TP. Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling. N Engl J Med. 1989 Dec 21;321(25):1689–1695. [PubMed]
  • Yandell DW, Dryja TP. 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]
  • Yunis JJ, Ramsay N. Retinoblastoma and subband deletion of chromosome 13. Am J Dis Child. 1978 Feb;132(2):161–163. [PubMed]
  • Zhu XP, Dunn JM, Phillips RA, Goddard AD, Paton KE, Becker A, Gallie BL. Preferential germline mutation of the paternal allele in retinoblastoma. Nature. 1989 Jul 27;340(6231):312–313. [PubMed]

Articles from British Journal of Cancer are provided here courtesy of Cancer Research UK


Save items

Related citations in PubMed

See reviews...See all...

Cited by other articles in PMC

See all...


  • PubMed
    PubMed citations for these articles

Recent Activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...