Skip to main content
PMC home page
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1978 Jul;30(4):406–424.

Hereditary retinoblastoma: delayed mutation or host resistance?

E Matsunaga
PMCID: PMC1685630  PMID: 717402

Abstract

Evidence is presented from the literature that there is little need to postulate delayed mutation for the retinoblastoma locus. Both penetrance and expressivity in the gene carrier can be defined as a variable determined by genetic and environmental factors, not by a Poisson distribution of tumors formed. Of individuals who received a new mutation from a healthy parent, approximately 13% do not manifest retinoblastoma, and the heritability of the host resistance is estimated at about 90%. The nonhereditary form of retinoblastoma may occur in the most susceptible group of the population.

Full text

PDF
406

Selected References

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

  1. AUERBACH C. A possible case of delayed mutation in man. Ann Hum Genet. 1956 May;20(4):266–269. doi: 10.1111/j.1469-1809.1955.tb01281.x. [DOI] [PubMed] [Google Scholar]
  2. Bertrams J., Schildberg P., Höpping W., Böhme U., Albert E. HL-A antigens in retinoblastoma. Tissue Antigens. 1973;3(2):78–87. doi: 10.1111/j.1399-0039.1973.tb00981.x. [DOI] [PubMed] [Google Scholar]
  3. Boniuk M., Girard L. J. Spontaneous regression of bilateral retinoblastoma. Trans Am Acad Ophthalmol Otolaryngol. 1969 Mar-Apr;73(2):194–198. [PubMed] [Google Scholar]
  4. Briard-Guillemot M. L., Bonaïti-Pellié C., Feingold J., Frézal J. Etude génétique du rétinoblastome. Humangenetik. 1974;24(4):271–284. doi: 10.1007/BF00297591. [DOI] [PubMed] [Google Scholar]
  5. Char D. H., Ellsworth R., Rabson A. S., Albert D. M., Herberman R. B. Cell-mediated immunity to a retinoblastoma tissue culture line in patients with retinoblastoma. Am J Ophthalmol. 1974 Jul;78(1):5–11. doi: 10.1016/0002-9394(74)90003-8. [DOI] [PubMed] [Google Scholar]
  6. Czeizel A., Gárdonyi J. Retinoblastoma in Hungary, 1960-1968. Humangenetik. 1974 May 17;22(2):153–158. [PubMed] [Google Scholar]
  7. Ellsworth R. M. The practical management of retinoblastoma. Trans Am Ophthalmol Soc. 1969;67:462–534. [PMC free article] [PubMed] [Google Scholar]
  8. FALLS H. F., NEEL J. V. Genetics of retinoblastoma. AMA Arch Ophthalmol. 1951 Oct;46(4):367–389. doi: 10.1001/archopht.1951.01700020378002. [DOI] [PubMed] [Google Scholar]
  9. François J., Matton M. T., De Bie S., Tanaka Y., Vandenbulcke D. Genesis and genetics of retinoblastoma. Ophthalmologica. 1975;170(5):405–425. doi: 10.1159/000307248. [DOI] [PubMed] [Google Scholar]
  10. Gordon H. Family studies in retinoblastoma. Birth Defects Orig Artic Ser. 1974;10(10):185–190. [PubMed] [Google Scholar]
  11. Herrmann J. Delayed mutation as a cause of retinoblastoma: application to genetic counseling. Birth Defects Orig Artic Ser. 1976;12(1):79–90. [PubMed] [Google Scholar]
  12. KANTER Y. C., HARRIS J. E. RETINOBLASTOMA OCCURRING IN ONE OF A PAIR OF IDENTICAL TWINS. Arch Ophthalmol. 1964 Dec;72:783–787. doi: 10.1001/archopht.1964.00970020785007. [DOI] [PubMed] [Google Scholar]
  13. Knudson A. G., Jr, Hethcote H. W., Brown B. W. Mutation and childhood cancer: a probabilistic model for the incidence of retinoblastoma. Proc Natl Acad Sci U S A. 1975 Dec;72(12):5116–5120. doi: 10.1073/pnas.72.12.5116. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. 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]
  15. MACKLIN M. T. A study of retinoblastoma in Ohio. Am J Hum Genet. 1960 Mar;12:1–43. [PMC free article] [PubMed] [Google Scholar]
  16. Matsunaga E. Hereditary retinoblastoma: penetrance, expressivity and age of onset. Hum Genet. 1976 Jul 7;33(1):1–15. doi: 10.1007/BF00447281. [DOI] [PubMed] [Google Scholar]
  17. Minoda K. [National registration of retinoblastoma children in 1975 (author's transl)]. Nippon Ganka Gakkai Zasshi. 1976 Dec 10;80(12):1648–1657. [PubMed] [Google Scholar]
  18. Morris W. E., LaPiana F. G. Spontaneous regression of bilateral multifocal retinoblastoma with preservation of normal visual acuity. Ann Ophthalmol. 1974 Nov;6(11):1192–1194. [PubMed] [Google Scholar]
  19. Nielsen M., Goldschmidt E. Retinoblastoma among offspring of adult survivors in Denmark. Acta Ophthalmol (Copenh) 1968;46(4):736–741. doi: 10.1111/j.1755-3768.1968.tb02871.x. [DOI] [PubMed] [Google Scholar]
  20. Reich T., James J. W., Morris C. A. The use of multiple thresholds in determining the mode of transmission of semi-continuous traits. Ann Hum Genet. 1972 Nov;36(2):163–184. doi: 10.1111/j.1469-1809.1972.tb00767.x. [DOI] [PubMed] [Google Scholar]
  21. Schappert-Kimmijser J., Hemmes G. D., Nijland R. The heredity of retinoblastoma. Ophthalmologica. 1966;151(2):197–213. doi: 10.1159/000304891. [DOI] [PubMed] [Google Scholar]
  22. Sorsby A. Bilateral retinoblastoma: a dominantly inherited affection. Br Med J. 1972 Jun 3;2(5813):580–583. doi: 10.1136/bmj.2.5813.580. [DOI] [PMC free article] [PubMed] [Google Scholar]
  23. TUCKER D. P., STEINBERG A. G., COGAN D. G. Frequency of genetic transmission of sporadic retinoblastoma. AMA Arch Ophthalmol. 1957 Apr;57(4):532–535. doi: 10.1001/archopht.1957.00930050544006. [DOI] [PubMed] [Google Scholar]
  24. VOGEL F. Neue Untersuchungen zur Genetik des Retinoblastoms; Glioma retinae. Z Mensch Vererb Konstitutionsl. 1957;34(2):205–236. [PubMed] [Google Scholar]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES