Skip to main content
SpringerLink
Log in

Hereditary retinoblastoma: Penetrance, expressivity and age of onset

  • Original Investigations
  • Published:
Human Genetics Aims and scope Submit manuscript

Summary

Analyses of family data published in Japan concerning 29 kindreds with 2 or more cases of retinoblastoma revealed that, in the children who received the gene from a carrier parent, both penetrance and expressivity increase with increasing degree of expressivity in the parent. The estimate for the average degree of penetrance varies from 0.7 to 0.9, depending upon the method employed. The value will be increased with increasing number of survivors of hereditary retinoblastoma. Data were presented to indicate that the hereditary form of retinoblastoma onset tends to be later in unilateral than in bilateral affection, though in the non-hereditary form onset will be further delayed. No effect of birth order was detected. It was suggested that suppressor genes at other loci play a significant role in manifestation of the major dominant gene for retinoblastoma. Implications of these findings were discussed.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

References

  • Böhringer, H. R.: Statistik, Klinik und Genetik der Schweizerischen Retinoblastomfälle (1924–1954). Arch. Klaus-Stift. Vererb.-Forsch. 31, 1–16 (1956)

    Google Scholar 

  • Briard-Guillemot, M. L., Bonaïti-Pellié, C., Feingold, J., Frézal, J.: Étude génétique du retinoblastome. Humangenetik 24, 271–284 (1974)

    Google Scholar 

  • Ellsworth, R. A.: The practical management of retinoblastoma. Trans. Amer. ophthal. Soc. 67, 462–534 (1969)

    Google Scholar 

  • Falls, H. F., Neel, J. V.: Genetics of retinoblastoma. Arch. Ophthal. 46, 367–389 (1951)

    Google Scholar 

  • Haldane, J. B. S.: A test for homogeneity of records of familial abnormalities. Ann. Eugen. (Lond.) 14, 339–341 (1949)

    Google Scholar 

  • Haldane, J. B. S., Smith, C. A. B.: A simple exact test for birth-order effect. Ann. Eugen. (Lond.) 14, 117–124 (1948)

    Google Scholar 

  • Hata, B.: Radiotherapy for glioma retinae (in Japanese). Naigai Chiryo 10, 423–426 (1935)

    Google Scholar 

  • Jensen, O. A.: Retinoblastoma in Denmark 1943–1958. A clinical, histopathological, and prognostic study. Acta ophthal. (Kbh.) 43, 821–840 (1965)

    Google Scholar 

  • Kaelin, A.: Statistische Prüf-und Schätzverfahren für die relative Häufigkeit von Merkmalsträgern in Geschwisterreihen bei einem der Auslese unterworfenen Material mit Anwendung auf das Retinagliom. Arch. Klaus-Stift. Vereb.-Forsch. 30, 263–485 (1955)

    Google Scholar 

  • Kawamoto, S.: A sibship with two brothers affected with glioma retinae and four sisters unaffected (in Japanese). Chuo Ganka Iho 17, 983–984 (1925)

    Google Scholar 

  • Kawasaki, M.: Two families with glioma retinae (in Japanese). Rinsho-Ganka 10, 1256–1261 (1956)

    Google Scholar 

  • Kiribuchi, M.: Patients with retinoblastoma seen during five years following inauguration of the National Cancer Center. I. (in Japanese). Rinsho Ganka 22, 37–41 (1968)

    Google Scholar 

  • Knudson, A. G.: Mutation and cancer: statistical study of retinoblastoma. Proc. nat. Acad. Sci. (Wash.) 68, 820–823 (1971)

    Google Scholar 

  • Konomi, I., Ohishi, N.: Two cases of inherited retinoblastoma (in Japanese). Ganka Rinsho Iho 61, 657–658 (1967)

    Google Scholar 

  • Kuwabara, Y., Funabashi, M., Kato, K., Nakajima, A., Kuwabara, N., Fukuda, Y.: Clinical, pathological and statistical study of retinoblastoma (in Japanese). Rinsho Ganka 28, 375–386 (1974)

    Google Scholar 

  • Kuwabara, N., Watanabe, S., Fukuda, Y., Nakajima, A., Kato, K., Kuwabara, Y.: Initial pathological signs of retinoblastoma. Proc. of the 1974 Meeting on Children's Malignant Neoplasia (Retinoblastoma) (in Japanese), 38–43 (1975)

  • Macklin, M. T.: A study of retinoblastoma in Ohio. Amer. J. hum. Genet. 12, 1–43 (1960)

    Google Scholar 

  • Matsunaga, E., Ogyu, H.: Genetic study of retinoblastoma in a Japanese population. Jap. J. hum. Genet. 4, 156 (1959)

    Google Scholar 

  • Matsunaga, E., Ogyu, H.: Retinoblastoma in Japan: follow-up survey of sporadic cases. Jap. J. Ophthal. 20 (in press, 1976)

  • Minoda, T., Tatsuyama, U.: Conservative treatment of retinoblastoma (in Japanese). Rinsho Ganka 26, 1007–1014 (1972)

    Google Scholar 

  • Nemoto, Y.: Glioma retinae: report of familial cases and a statistical study (in Japanese). Acta Soc. ophthal. jap. 41, 2217–2226 (1937)

    Google Scholar 

  • Nielsen, M., Goldschmidt, E.: Retinoblastoma among offspring of adult survivors in Denmark. Acta ophthal. (Kbh.) 46, 736–741 (1968)

    Google Scholar 

  • Ogyu, H.: Genetico-epidemiological study on the occurrence of retinoblastoma in a Japanese population (in Japanese). Acta Soc. ophthal. jap. 63, 2702–2717 (1961)

    Google Scholar 

  • Ohnishi, K., Miyamoto, S.: Inherited cases of retinoblastoma, with special reference to chromosomal findings (in Japanese). Rinsho Ganka 26, 1137–1140 (1972)

    Google Scholar 

  • Sato, T., Nonaka, A., Urata, M.: Inherited cases of glioma retinae (in Japanese). Ganka Rinsho Iho 52, 647–649 (1958)

    Google Scholar 

  • Schappert-Kimmijser, J., Hemmes, G. D., Nijland, R.: The heredity of retinoblastoma. Ophthalmologica (Basel) 151, 197–213 (1966)

    Google Scholar 

  • Sorsby, A.: Bilateral retinoblastoma: a dominantly inherited affection. Brit. med. J. 1972 II, 580–583

    Google Scholar 

  • Takagi, I., Ikui, H.: Statistical study on retinoblastoma seen during the perod from 1965 to 1973 at the Ophthalmologic Clinic of the University of Kyushu (in Japanese). Ganaka 16, 479–487 (1974)

    Google Scholar 

  • Takahashi, K.: Affection of two brother with glioma retinae (in Japanese). Chuo Ganka Iho 22, 499 (1974)

    Google Scholar 

  • Takayasu, A.: Personal communication (1964)

  • Tozuka, K., Momose, H., Ohba, H., Ikeda, N.: A sibship with glioma retinae, all three affected bilaterally (in Japanese). Acta Soc. ophthal. jap., Suppl. 68, 79–88 (1964)

    Google Scholar 

  • Tucker, D. P., Steinberg, A. G., Cogan, D. G.: Frequency of genetic transmission of sporadic retinoblastoma. Arch. Ophthal. 57, 532–535 (1957)

    Google Scholar 

  • Verschuer, O. v.: Erbpathologie, 2nd ed.. Dresden-Leipzig: Steinkopff 1937

    Google Scholar 

  • Vogel, F.: Neue Untersuchungen zur Genetik des Retinoblastoms (Glioma retinae). Z. menschl. Vererb.-u. Konstit.-Lehre 34, 205–236 (1957)

    Google Scholar 

  • Yoshida, K., Minoda, T.: A kindred with retinoblastoma. Proc. of the 1974 Meeting on Children's Malignant Neoplasia (Retinoblastoma) (in Japanese), 15–17 (1975)

Download references

Author information

Authors and Affiliations

  1. Department of Human Genetics, National Institute of Genetics, Mishima

    Ei Matsunaga

Authors
  1. Ei Matsunaga
    View author publications

    You can also search for this author in PubMed Google Scholar

Additional information

This work, contribution number 1093 from the National Institute of Genetics, was supported by grants-in-aid from the Ministry of Education and the Ministry of Health and Welfare.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Matsunaga, E. Hereditary retinoblastoma: Penetrance, expressivity and age of onset. Hum Genet 33, 1–15 (1976). https://doi.org/10.1007/BF00447281

Download citation

  • Received:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00447281

Keywords

Search

Navigation