Abstract
Although the genetic analysis of cancer in animals has played a major role in the development of knowledge and new ideas about the etiology and pathogenesis of cancer, the genetic study of human cancer has played a very minor role. Part of this difference is attributable to the fact animal data have been provided to a great extent by experimental manipulation of selected species and genetic strains, whereas human data have been largely descriptive and not related either to animal data or to critical etiological hypotheses. Genetic analyses of human cancer have consisted primarily of population, family, and twin studies of tumor occurrence and cytogenetic analyses. The results of cytogenetic analyses of human tumors are thoroughly discussed elsewhere in this volume, and reference to them in this chapter will be confined largely to discussion of genetically predisposing conditions which involve chromosomal abnormality. It is the study of the occurrence of tumors that has contributed most significantly to the understanding of etiology.
Supported in part by Medical Genetics Center Grant GM 19513 from the National Institute of General Medical Sciences.
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References
Aaronson, S. A., and Lytle, C. D., 1970, Decreased host cell reactivation of irradiated SV40 virus in xeroderma pigmentosum, Nature (Lond.) 228: 359.
Ames, B. N., Durston, W. E., Yamasaki, E., and Lee, F. D., 1973, Carcinogens are mutagens: A simple test system combining liver homogenates for activation and bacteria for detection, Proc. Natl. Acad. Sci. 70: 2281.
Anderson, D. E., 1970, Genetic varieties of neoplasia, in: Genetic Concepts and Neoplasia (M. D. Anderson Hospital Symposium), pp. 85–109, Williams and Wilkins, Baltimore.
Anderson, D. E., 1971, Clinical characteristics of the genetic variety of cutaneous melanoma in man, Cancer 28: 721.
Anderson, D. E., 1972, A genetic study of human breast cancer, J. Natl. Cancer Inst. 48: 1029.
Armitage, P., and Doll, R., 1954, The age distribution of cancer and a multi-stage theory of carcinogenesis, Brit. J. Cancer 8: 1.
Armitage, P., and Doll, R., 1957, A two-stage theory of carcinogenesis in relation to the age distribution of human cancer, Brit. J. Cancer 11: 161.
Ashley, D. J. B., 1969a, The two “hit” and multiple “hit” theories of carcinogenesis, Brit. J. Cancer 23: 313.
Ashley, D. J. B., 19696, Colonic cancer arising in polyposis coli, J. Med. Genet. 6: 376.
Auerbach, C., 1956, A possible case of delayed mutation in man. Ann. Hum. Genet. 20: 266.
Burgh, P. R. J., 1962, A biological principle and its converse: Some implications for carcinogenesis, Nature (Lund.) 195: 241.
Burch, P. R. J., 1965, Natural and radiation carcinogenesis in man. II. Natural leukemogenesis: initiation, Proc. Roy. Soc. Lond. Ser. B 162: 240.
Caspersson, T., Gahrton, G., Lindsten, J., and Zech, L., 1970, Identification of the Philadelphia chromosome as a number 22 by quinacrine mustard fluorescence analysis, Exp. Cell Res. 63: 238.
Cleaver, J. E., 1968, Defective repair replication of Dna in xeroderma pigmentosum, Nature (Lond.) 218: 652.
Cleaver, J. E., 1969, Xeroderma pigmentosum: A human disease in which an initial stage of Dna repair is defective, Proc. Natl. Acad. Sci., 63: 428.
Fialkow, P. J., 1966, Autoimmunity and chromosomal aberrations, Am. J. Hum. Genet. 18: 93.
Fialkow, P. J., 1972, Use of genetic markers to study cellular origin and development of tumors in human females, Advan. Cancer Res. 15: 191.
Fraumeni, J. F., 1969, Constitutional disorders of man predisposing to leukemia and lymphoma, Natl. Cancer Inst. Monogr. 32: 221.
Gardner, E. J., and Richards, R. C., 1953, Multiple cutaneous and subcutaneous lesions occurring simultaneously with hereditary polyposis and osteomatosis, Am. J. Hum. Genet. 5: 139.
Gatti, R. A., and Good, R. A., 1971, Occurrence of malignancy in immunodeficiency diseases A literature review, Cancer 28: 89.
German, J., 1972, Genes which increase chromosomal instability in somatic cells and predispose to cancer, Prog. Med. Genet. 8: 61.
Gorlin, R. J., Sedano, H. O., Vickers, R. A., and Cervenka, J., 1968, Multiple mucosal neuromas, pheochromocytoma and medullary carcinoma of the thyroid—A syndrome, Cancer 22; 293.
Hecht, F., Bryant, J. S., Gruber, D., and Townes, P. L., 1964, The nonrandomness of chromosomal abnormalities: Association of trisomy 18 and Down’s syndrome, New Engl. J. Med. 271: 1081.
Hecht, F., Mccaw, B. K., and Koler, R. D., 1973, Ataxia-telangiectasia—Clonal growth of translocation lymphocytes, New Engl. J. Med. 289: 286.
Higurashi, M., and Conen, P. E., 1971, In vitro chromosomal radiosensitivity in Fanconi’s anemia, Blood 38: 336.
Hirschhorn, K., and Blochshtacher, N., 1970, Transformation of genetically abnormal cells, in: Genetic Concepts and Neoplasia (M. D., Anderson Hospital Symposium), pp. 191–202, Williams and Wilkins, Baltimore.
Kellermann, G., Shaw, C. R., and Luytenkellermann, M., 1973, Aryl hydrocarbon hydroxylase inducibility and bronchogenic carcinoma, New Engl. J. Med. 289: 934.
Kersey, J. H., Gatti, R. A., Good, R. A., Aaronson, S. A., and Todaro, G. J., 1972, Susceptibility of cells from patients with primary immunodeficiency diseases to transformation by simian virus 40, Proc. Natl. Acad. Sci. 69: 980.
Knudson, A. G., 1971, Mutation and cancer: Statistical study of retinoblastoma, Proc. Natl. Acad. Sci. 68: 820.
Knudson, A. G., 1973, Mutation and human cancer, Advan. Cancer Res. 17: 317.
Knudson, A. G., and Strong, L. C., 1972a, Mutation and cancer: Neuroblastoma and pheochromocytoma, Am. J. Hum. Genet. 24: 514.
Knudson, A. G., and Strong, L. C., 1972b, Mutation and cancer: A model for Wilms’ tumor of the kidney, J. Natl. Cancer Inst. 48: 313.
Knudson, A. G., Strong, L. C., and Anderson, D. E., 1973, Heredity and cancer in man, Prog. Med. Genet. 9: 113.
Ladda, R., Atkins, L., Littlefield, J., and Pruett, R., 1973, Retinoblastoma: Chromosome banding in patients with heritable tumor, Lancet 2: 506.
Lynch, H. T., and Krush, A. J., 1971, Cancer family “G” revisited: 1895–1970, Cancer 27: 1505.
Lynch, H. T., Krush, A. J., Larsen, A. L., and Magnuson, C. W., 1966, Endometrial carcinoma Multiple primary malignancies, constitutional factors, and hereditary, Am. J. Med. Sci. 252: 381.
Macmahon, B., and Levy, M. A., 1964, Prenatal origin of childhood leukemia: Evidence from twins, New Engl. J. Med. 270: 1082.
Miller, R. W., 1963, Down’s syndrome (mongolism), other congenital malformations and cancer among the sibs of leukemic children, New Engl. J. Med. 268: 393.
Miller, R. W., 1968, Deaths from childhood cancer in sibs, New Engl. J. Med. 279: 122.
Miller, R. W., 1970, Neoplasia and Down’s syndrome, Ann. N.Y. Acad. Sci. 171: 637.
Miller, R. W., and Todaro, G. J., 1969, Viral transformation of cells from persons at high risk of cancer, Lancet 1: 81.
Neel, J. V., 1962, Mutations in the human population, in: Methodology in Human Genetics (W. J. Burdette, ed.), pp. 203–224, Holden-Day, San Francisco.
Neel, J. V., 1971, Familial factors in adenocarcinoma of the colon, Cancer 28: 46.
Nowell, P. C., and Hungerford, D. A., 1960, A minute chromosome in human chronic granulocytic leukemia, Science 132: 1497.
Nowell, P. C., and Hungerford, D. A., 1961, Chromosome studies in human leukemia. ii. Chronic granulocytic leukemia, J. Natl. Cancer Inst. 27: 1013.
Parrington, J. M., Delhanty, J. D. A., and Baden, H. P., 1971, Unscheduled Dna synthesis, u.v.-induced chromosome aberrations and SV40 transformation in cultured cells from xeroderma pigmentosum, Ann. Hum. Genet. 35: 149.
Rowley, J. D., 1973, A new consistent chromosomal abnormality in chronic myelogenous leukemia identified by quinacrine fluorescence and Giemsa staining, Nature (Lond.) 243: 290.
Setlow, R. B., and Regan, J. D., 1972, Defective repair of N-acetoxy-2-acetylaminofluorene-induced lesions in the Dna of xeroderma pigmentosum cells, Biochem. Biophys. Res. Commun. 46: 1019.
Setlow, R. B., Regan, J. D., German, J., and Carrier, W. L., 1969, Evidence that xeroderma pigmentosum cells do not perform the first step in the repair of ultraviolet damage to their Dna, Proc. Natl. Acad. Sci. 64: 1035.
Strong, L. C., and Knudson, A. G., 1972, Mutation and childhood cancer: A model and its implications, Am. J. Hum. Genet. 24: 48a.
Temin, H. M., 1972, The Rna tumor viruses—Background and foreground, Proc. Natl. Acad. Sci. 69: 1016.
Todaro, G. J., and Huebner, R. J., 1972, The viral oncogene hypothesis: New evidence, Proc. Natl. Acad. Sci. 69: 1009.
Tokuhata, G. K., 1964, Familial factors in human lung cancer and smoking, Am. J. Pub. Health 54: 24.
Warthin, A. S., 1913, Heredity with reference to carcinoma: As shown by the study of the cases examined in the pathological laboratory of the University of Michigan, 1895–1913, Arch. Int. Med. 12: 546.
Williams, E. D., and Pollock, D. J., 1966, Multiple mucosal neuromata with endocrine tumours: A syndrome allied to von Recklinghausen’s disease, J. Pathol. Bacteriol. 91: 71.
Wilson, M. G., Towner, J. W., and Fujimoto, 1973, Retinoblastoma and D-chromosome deletions, Am. J. Hum. Genet. 25: 57.
Young, D., 1971, The susceptibility to SV40 virus transformation of fibroblasts obtained from patients with Down’s syndrome, Europ. J. Cancer 7: 337.
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Knudson, A.G. (1982). Genetic Influences in Human Tumors. In: Becker, F.F. (eds) Etiology: Chemical and Physical Carcinogenesis. Cancer, A Comprehensive Treatise. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-6598-7_3
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