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Genetic determinants of cancer in man

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Biology of Carcinogenesis

Part of the book series: Cancer Biology and Medicine ((CABM,volume 1))

Abstract

The clustering of cancers in individual families has long been recognised. In 18661 Broca described a family in which breast and gastrointestinal tract cancers occurred over four generations, and a dominant pattern of inheritance was recognised in retinoblastoma as long ago as 18962. However, with the exception of certain rare inherited conditions including retinoblastoma, neurofibromatosis and familial polyposis coli, where susceptibility to malignant disease is marked, genetic factors are generally considered to have much less importance than environmental factors. The study of cancer genetics in man may nevertheless be of considerable importance in understanding the fundamental nature of cancer, in developing cancer control programmes and in advising individual patients and their families. For some patients, possible increased risks of cancer in close relatives may cause considerable anxiety, and reassurances based on misconceptions are of little benefit. The present chapter aims to give a general overview of the more interesting aspects of genetic susceptibility to cancer in man, rather than to provide a detailed review of the literature. This will be used as the basis for a discussion of how a clinical and epidemiological approach to the study of human cancer genetics can be productive and worthwhile for experimentalists, medical practitioners and for patients and their families.

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References

  1. Broca, P. (1866). Traite des tumours. Des Tumeurs en General. Vol. 1. (Paris: Anselin, Becket et Labe)

    Google Scholar 

  2. de Gouvea, H. (1896). Bull. Soc. Med. Chir., 8, 25

    Google Scholar 

  3. Sedgwick, R. P. and Boder, E. S. (1972). Ataxia-telangiectasia. In Vinken, P. J. and Breyer, G. W. (eds.) Handbook of Clinical Neurology, pp. 317–318. (Amsterdam: North Holland)

    Google Scholar 

  4. Hecht, F. and Kaiser-Maw, B. (1982). Ataxia-telangiectasia: genetics and heterogeneity. In Bridges, B. A. and Harnden, D. G. (eds.) Ataxia-telangiectasia. A Cellular and Molecular Link between Cancer, Neuropathology, and Immune Deficiency, pp. 197–201. (Chichester: John Wiley & Sons)

    Google Scholar 

  5. Filipovich, A. H., Spector, B. D. and Kersey, J. H. (1980). Immunodeficiency in humans as a risk factor in the development of malignancy. Prev. Med., 9, 252–259

    Article  PubMed  CAS  Google Scholar 

  6. Spector, B. D., Filipovich, A. H., Perry, G. S. III and Kersey, J. H. (1982). Epidemiology of cancer in ataxia-telangiectasia. In Bridges, B. A. and Harnden, D. G. (eds.) Ataxia- Telangiectasia. A Cellular and Molecular Link between Cancer, Neuropathology, and Immune Deficiency, pp. 103–138. (Chichester: John Wiley & Sons)

    Google Scholar 

  7. Cunliffe, P. N., Mann, J. R., Cameron, A. H., Roberts, K. D. and Ward, H. W. C. (1975). Radiosensitivity in ataxia-telangiectasia. Br. J. Radiol., 48, 374–376

    Article  Google Scholar 

  8. Taylor, A. M. R., Metcalfe, J., Oxford, J. M. and Harnden, D. G. (1976). Is chromatid-type damage in ataxia-telangiectasia after irradiation at Go a consequence of defective repair. Nature, 260, 441–443

    Article  PubMed  CAS  Google Scholar 

  9. Bridges, B. A. and Harnden, D. G. (eds.) (1982). Ataxia-telangiectasia. A Cellular and Molecular Link between Cancer, Neuropathology, and Immune Deficiency. (Chichester: John Wiley & Sons)

    Google Scholar 

  10. German, J., Bloom, D. and Passarge, E. (1979). Bloom’s syndrome. VII. Progress report for 1978. Clin. Genet., 15, 361–367

    Article  PubMed  CAS  Google Scholar 

  11. Schroeder, T. M., Tilgen, D., Kruger, J. and Vogel, F. (1976). Formal genetics of Fanconi’s anaemia. Hum. Genet., 32, 257–288

    Article  PubMed  CAS  Google Scholar 

  12. Schroeder, T. M., Pohler, E. and Hufnagl, H. D. (1979). Fanconi’s anaemia: terminal leukaemia and “forme fruste” in one family. Clin. Genet., 16, 260–268

    Article  PubMed  CAS  Google Scholar 

  13. Swift, M. (1982). Single gene syndromes. In Schottenfeld, D and Fraumeni, J. F. Jr. (eds.) Cancer Epidemiology and Prevention. Ch. 25, pp. 475–482. (Philadelphia: W. B. Saunders Co.)

    Google Scholar 

  14. Kraemer, K. H. (1980). Xeroderma pigmentosum. In Demis, D. J., Robson, R. L. and McGuire, M. (eds.) Clinical Dermatology, pp. 1–33. (New York: Harper & Row)

    Google Scholar 

  15. Swift, M. (1971). Fanconi’s anaemia in the genetics of neoplasia. Nature, 230, 370–373

    Article  PubMed  CAS  Google Scholar 

  16. Swift, M., Caldwell, R. J. and Chase, C. (1980). Reassessment of cancer predisposition of Fanconi anaemia heterozygotes. J. Natl Cancer Inst., 65, 863–867

    PubMed  CAS  Google Scholar 

  17. Swift, M. and Chase, C. (1979). Cancer in xeroderma pigmentosum families. J. Natl. Cancer Inst., 62, 1415–1421

    PubMed  CAS  Google Scholar 

  18. Swift, M., Sholman, L., Perry, M. and Chase, C. (1975). Malignant neoplasms in the families of patients with ataxia-telangiectasia. Cancer Res., 36, 209–215

    Google Scholar 

  19. Swift, M. (1982). Disease predisposition of ataxia-telangiectasia heterozygotes. In Bridges, B. A. and Harnden, D. G. (eds.) Ataxia-telangiectasia. A Cellular and Molecular Link between Cancer, Neuropathology, and Immune Deficiency, pp. 355–361. (Chichester: John Wiley & Sons)

    Google Scholar 

  20. Gorlin, R. J. and Goltz, R. W. (1960). Multiple naevoid basal cell epithelioma, jaw cysts and bifid ribs: a syndrome. N. Engl. J. Med., 262, 908–912

    Article  PubMed  CAS  Google Scholar 

  21. Straith, F. E. (1939). Hereditary epidermoid cyst of the jaws. Am. J. Orthodont. Oral Surg., 25, 673–691

    Article  Google Scholar 

  22. Satinoff, M. I. and Wells, C. (1969). Multiple basal cell naevus syndrome in ancient Egypt. Med. Hist., 13, 294–297

    PubMed  CAS  Google Scholar 

  23. Knudson, A. G. Jr., Strong, L. C. and Anderson, D. E. (1973). Heredity and cancer in man. Prog. Med. Genet., 9, 113–157

    PubMed  Google Scholar 

  24. Strong, L. C. (1977). Genetic considerations in pediatric oncology. In Sutow, W. W., Vietti, T. J. and Fernbach, D. J. (eds.) Clinical Pediatric Oncology. 2nd Edn., Ch. 2, pp. 16–32. (St Louis: The C.V. Mosby Co.)

    Google Scholar 

  25. Meadows, A. T., Baum, E., Fassati-Bellani, F., Green, D., Jenkin, R. D. T., Marsden, B., Nesbit, M., Newton, W., Oberlin, O., Sallan, S. G., Siegel, S., Strong, L. C., and Voute, P. A. (1985). Second malignant neoplasms in children: an update from the Late Effects Study Group. J. Clin. Oncol., 3, 532–538

    PubMed  CAS  Google Scholar 

  26. Bussey, H. J. R. (1975). Familial Polyposis Coli. (Baltimore and London: The Johns Hopkins University Press)

    Google Scholar 

  27. Schimke, R. N. (1977). Tumors of the neural crest system. In Mulvihill, J. J., Miller, R. W. and Fraumeni, J. F. Jr. (eds.) Genetics of Human Cancer. Ch. 14, pp. 179–198. (New York: Raven Press)

    Google Scholar 

  28. Ponder, B. A. J. (1984). Role of genetic and familial factors. In Stoll, B. A. (ed.) Risk Factors and Multiple Cancer. New Horizons in Oncology. Vol. 3. (Chichester: John Wiley & Sons)

    Google Scholar 

  29. Hope, D. G. and Mulvihill, J. F. (1981). Malignancy in neurofibromatosis. Adv. Neurol., 29, 33–56

    PubMed  CAS  Google Scholar 

  30. Rosai, J. (1981). Ackerman’s Surgical Pathology. Vol. Two, Ch. 24. 6th Edn. (St. Louis: The C. V. Mosby Co.)

    Google Scholar 

  31. Eldridge, R. (1981). Central neurofibromatosis with bilateral acoustic neuroma. Adv. Neurol., 29, 57–65

    PubMed  CAS  Google Scholar 

  32. Moots, P. L. and Rubinstein, L. J. (1984). Multiple neoplasms of the nervous system. In Stoll, B. A. (ed.) New Horizons in Oncology. Vol. 3. (Chichester: John Wiley & Sons)

    Google Scholar 

  33. Mulvihill, J. J. (1977). Genetic repertory of human neoplasia. In Mulvihill, J. J., Miller, R. W. and Fraumeni, J. F. Jr. (eds.) Genetics of Human Cancer. Ch. 11, pp. 137–143. (New York: Raven Press)

    Google Scholar 

  34. Bader, J. L. and Miller, R. W. (1978). Neurofibromatosis and childhood leukemia. J. Pediatr., 92, 925–929

    Article  PubMed  CAS  Google Scholar 

  35. Stay, E. J. and Vawter, G. (1977). The relationship between nephroblastoma and neurofibromatosis (von Recklinghausen’s disease). Cancer, 39, 2550–2555

    Article  PubMed  CAS  Google Scholar 

  36. McKeen, E. A., Bodurtha, J, Meadows, A. T., Douglass, E. C. and Mulvihill, J. J. (1978). Rhabdomyosarcoma complicating multiple neurofibromatosis. J. Pediatr., 93, 922–993

    Article  Google Scholar 

  37. Brooks, J. S. J., Freeman, M. and Enterline, H. T. (1985). Malignant “Triton” tumors. Natural history and immunohistochemistry of nine new cases with literature review. Cancer, 55, 2543–2549

    Article  PubMed  CAS  Google Scholar 

  38. Elsworth, R. M. (1969). The practical management of retinoblastoma. Trans. Am. Ophthalmol. Soc., 67, 462–534

    Google Scholar 

  39. Falls, H. F. and Neel, J. V. (1951). Genetics of retinoblastoma. Arch. Opthalmol., 46, 367–389

    CAS  Google Scholar 

  40. Devesa, S. S. (1975). The incidence of retinoblastoma. Am. J. Opthalmol., 80, 263–265

    CAS  Google Scholar 

  41. de Gouvea, H. (1910). L’hérédité des gliomes de la retine Ann. Ocul., CXLIII, 32–35

    Google Scholar 

  42. Sorsby, A. (1972). Bilateral retinoblastoma: A dominantly inherited affection.Br. Med. J., 2, 580–583

    Article  PubMed  CAS  Google Scholar 

  43. Smith, J. L. S. and Bedford, M. A. (1976). Retinoblastomas. In Marsden, H. B. and Steward, J. K. (eds.) Tumours in Children. 2nd Edn.Recent Results in Cancer Research. Vol. 13, pp. 245–281 (Berlin: Springer-Verlag)

    Google Scholar 

  44. Knudson, A. G. Jr. (1971). Mutation and cancer: Statistical study of retinoblastoma. Proc. Natl Acad. Sci. USA., 68, 820–823

    Article  PubMed  Google Scholar 

  45. Knudson, A. G. Jr. (1978). Retinoblastoma: a prototypic hereditary neoplasm. Semin. Oncol., 5, 57–60

    PubMed  Google Scholar 

  46. Kingston, J., Plowman, P. N. and Hungerford, J. R. (1985). Ectopic intracranial retinoblastoma in childhood. Br. J. Ophthalmol., 69, 742–749

    Article  PubMed  CAS  Google Scholar 

  47. Knudson, A. G. Jr. and Strong, L. C. (1972). Mutation and cancer: A model for Wilms’ tumor of the kidney. J. Natl Cancer Inst., 48, 313–324

    PubMed  Google Scholar 

  48. Brown, T., Puranik, R., Altman, H. and Hardin, H. C. (1972). Wilms’ tumor in three successive generations. Surgery, 72, 756–761

    PubMed  CAS  Google Scholar 

  49. Kaufman, R. L., Vietti, T. J. and Wabner, C. I. (1973). Wilms’ tumour in father and son. Lancet, i, 43

    Article  Google Scholar 

  50. Green, D. (1985). The Diagnosis and management of Wilms’ tumour. In A. J. Altman (Guest Ed.)The Pediatrics Clinics of North America. Vol. 32, No. 3, June 1985. pp. 735–754. Symposium on Pediatric Oncology. (Philadelphia: W. B. Saunders Co.)

    Google Scholar 

  51. Breslow, N. E. and Beckwith, J. B. (1982). Epidemiological features of Wilms’ tumour. Results of the National Wilms’ Tumor Study. J. Natl Cancer Inst., 68, 429–436

    PubMed  CAS  Google Scholar 

  52. Koufos, A., Hansen, M. F., Copeland, N. G., Jenkins, N. A., Lampkin, B. C. and Cavenee, W. K. (1985). Loss of heterozygosity in three embryonal tumours suggests a common pathogenetic mechanism. Nature, 316, 330–334

    Article  PubMed  CAS  Google Scholar 

  53. Miller, R. W. (1971). Deaths from childhood leukaemia and solid tumors among twins and other sibs in the United States 1960–67. J. Natl Cancer Inst., 46, 203–209

    PubMed  CAS  Google Scholar 

  54. Draper, G. J., Heaf, M. M. and Wilson, L. M. K. (1977). Occurrence of childhood cancers among sibs. and estimation of familial risks. J. Med: Genet., 14, 81–90

    Article  CAS  Google Scholar 

  55. Kitchin, F. D. and Ellsworth, R. M. (1974). Pleiotropic effects of the gene for retinoblastoma. J. Med. Genet., 11, 244–246

    Article  PubMed  CAS  Google Scholar 

  56. Farwell, J. and Flannery, J. T. (1984). Second primaries in children with central nervous sytem tumors. J. Neuro-Oncol., 2, 371–375

    Article  CAS  Google Scholar 

  57. Tucker, M. A., Meadows, A. T., Boice, J. D., Stovall, M., Oberlin, O., Stone, B. J., Birch, J., Voute, P. A., Hoover, R. N., and Fraumeni, J. F. Jr. (1986). Leukaemia after therapy with alkylating agents for childhood cancer. Submitted for publication

    Google Scholar 

  58. Lynch, H. T. (1967). In Lynch, H. T. (ed.) Hereditary Factors in Carcinoma. Recent Results in Cancer Research. Vol. 12, pp. 1–184. (New York: Springer)

    Google Scholar 

  59. Anderson, D. E. (1975). Familial susceptibility. In Fraumeni, J. F. Jr. (ed.) Persons at High Risk of Cancer. An Approach to Cancer Etiology and Control. Ch. 2, pp. 39–54. (New York: Academic Press)

    Google Scholar 

  60. Waterhouse, J., Muir, C., Shanmugaratnam, K. and Powell, J. (eds.) (1982). Cancer Incidence in Five Continents. Vol. IV. I ARC Scientific Publications No. 42. World Health Organisation. (Lyon: International Agency for Research on Cancer)

    Google Scholar 

  61. Macklin, M. T. (1959). Comparison of the number of breast cancer deaths observed in relatives of breast cancer patients, and the number expected on the basis of mortality rates. J. Natl Cancer Inst., 22, 927–951

    PubMed  CAS  Google Scholar 

  62. Anderson, D. E. (1972). A genetic study of human breast cancer. J. Natl Cancer Inst., 48, 1029–1034

    PubMed  CAS  Google Scholar 

  63. Anderson, D. E. (1974). Genetic study of breast cancer. Identification of a high risk group. Cancer, 34, 1090–1097

    Article  PubMed  CAS  Google Scholar 

  64. Anderson, D. E. (1977) Genetic predisposition to breast cancer. In Arneault, G. and Israel I. L. (eds.) Breast Cancer: A Multidisciplinary Approach, p. 10. (Berlin: Springer-Verlag)

    Google Scholar 

  65. Anderson, D. E. (1977). Breast cancer in families. Cancer, 40, 1855–1860

    Article  PubMed  CAS  Google Scholar 

  66. Adami, H.-O., Hansen, J., Jung, B and Rimsten, A. (1981). Characteristics of familial breast cancer in Sweden. Absence of relation to age and unilateral versus bilateral disease. Cancer, 48, 1688–1695

    Article  PubMed  CAS  Google Scholar 

  67. Ottman, R, Pike, M. C., King, M.-C., and Henderson, B. E. (1983). Practical guide for estimating risk for familial breast cancer. Lancet, ii, 556–558

    Article  Google Scholar 

  68. Anderson, D. E., and Badzioch, M. D. (1985). Risk of familial breast cancer. Cancer, 56, 383–387

    Article  PubMed  CAS  Google Scholar 

  69. Fraumeni, J. F. Jr. (1977). Clinical patterns of familial cancer. In Mulvihill, J. J., Miller, R. W. and Fraumeni, J. F. Jr. (eds.) Genetics of Human Cancer. Ch. 19, pp. 223–233. (New York: Raven Press)

    Google Scholar 

  70. Lynch, H. T. (1981). Genetic heterogeneity and breast cancer: variable tumor spectra. In Lynch, H. T. (ed.) Genetics and Breast Cancer. Ch. 6, pp. 134–170. (New York: van Nostrand Reinhold Co.)

    Google Scholar 

  71. Bottomley, R. D. and Condit, P. T. (1968). Cancer families. Cancer Bull., 20, 22–24

    Google Scholar 

  72. Li, F. P. and Fraumeni, J. F. Jr. (1969). Soft-tissue sarcomas, breast cancer and other neoplasms. A familial syndrome? Ann. Intern. Med., 71, 747–752

    PubMed  CAS  Google Scholar 

  73. Li, F. P. and Fraumeni, J. F. Jr. (1982). Prospective study of a family cancer syndrome. J. Am. Med. Assoc., 247, 2692–2694

    Article  CAS  Google Scholar 

  74. Birch, J. M., Hartley, A. L., Marsden, H. B., Harris, M. and Swindell, R. (1984). Excess risk of breast cancer in the mothers of children with soft tissue sarcomas. Br. J. Cancer, 49, 325–331

    Article  PubMed  CAS  Google Scholar 

  75. Mulvihill, J. (1984). Clinical ecogenetics of human cancer. In Bishop, J. M., Rowley, J. D. and Greaves, M. (eds.) Genes and Cancer, pp. 19–36. UCLA Symposia on Molecular and Cellular Biology, New Series, Vol. 17. (New York: Alan R. Liss)

    Google Scholar 

  76. Prior, P. and Waterhouse, J. A. H. (1981). Multiple primary cancers of the breast and ovary. Br. J. Cancer, 44, 628–636

    Article  PubMed  CAS  Google Scholar 

  77. Birch, J. M. (1983). Epidemiology of paediatric cancer. In Duncan, W. (ed.) Paediatric Oncology. Recent Results in Cancer Research. Vol. 88, pp. 1–10. (Berlin: Springer-Verlag)

    Google Scholar 

  78. Breslow, N. E. and Langholz, B. (1983). Childhood cancer incidence: geographical and temporal variations. Int. J. Cancer, 32, 703–716

    Article  PubMed  CAS  Google Scholar 

  79. Hirayama, T., Waterhouse, J. A. H., and Fraumeni, J. F. Jr. (1980). Cancer Risks by Site. UICC Technical Report Series, Vol. 41. (Geneva: UICC)

    Google Scholar 

  80. Gordon, H. (1974). Family studies in retinoblastoma. Birth Defects, Vol. X, No. 10, pp. 185–190

    Google Scholar 

  81. Knudson, A. G. Jr. (1985). Hereditary cancer, oncogenes and antioncogenes. Cancer Res., 45, 1437–1443

    PubMed  CAS  Google Scholar 

  82. Harnden, D. G. (1984). The Nature of inherited susceptibility to cancer. Carcinogenesis, 5, 1535–1537

    Article  PubMed  CAS  Google Scholar 

  83. Peto, J. (1980). Genetic predisposition to cancer. In Cairns, J., Lyon, J. L. and Skolnick, M. (eds.) Cancer Incidence in Defined Populations. Banbury Report 4. pp. 203–213. (New York: Cold Spring Harbor Laboratory)

    Google Scholar 

  84. Lynch, H. T., Katz, D. A., Bogard, P. J. and Lynch, J. F. (1985). The sarcoma, breast cancer, lung cancer, and adrenocortical carcinoma syndrome revisited. Childhood cancer. Am. J. Dis. Child., 139, 134–136

    PubMed  CAS  Google Scholar 

  85. Ayesh, R., Idle, J. R., Ritchie, J. C., Crothers, M. J. and Hetzel, M. R. (1984). Metabolic oxidation phenotypes as markers for susceptibility to lung cancer. Nature, 312, 169–170

    Article  PubMed  CAS  Google Scholar 

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Birch, J.M. (1987). Genetic determinants of cancer in man. In: Waring, M.J., Ponder, B.A.J. (eds) Biology of Carcinogenesis. Cancer Biology and Medicine, vol 1. Springer, Dordrecht. https://doi.org/10.1007/978-94-009-3213-5_8

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  • DOI: https://doi.org/10.1007/978-94-009-3213-5_8

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