Clinical Genetics of Human Cancer

  • John J. Mulvihill
Part of the Environmental Science Research book series (ESRH, volume 31)


In a sense, the clinical genetics of cancer, especially of childhood cancer, is the intersection of human mutagenesis, carcinogenesis, and teratogenesis. Examples include: two or more mutations seen necessary for the initiation of many cancers (Knudson hypothesis); sane of the same chemical and physical agents that cause cancer also cause birth defects, sometimes in the same patient (e. g. , diethylstilbestrol and hydantoin); and treatment for cancer can break chromosomes, and cause cancer and birth defects. Clinical observations continue to initiate studies of disease etiology; they also validate findings from epidemiologic and laboratory research and provide opportunities to prevent birth defects, cancer and, possibly, other genetic diseases. Rare patients or families with various combinations of cytogenetic defects, single mutant genes, birth defects, and cancer (singly or in combinations) can improve understanding of another (e.g., carcinogenesis). Current efforts to bring appropriate human specimens to laboratory scientists should lead to identification of gene markers (e.g., restriction fragments polymorphisms), assignments of cancer gene loci including oncogenes, and detection of intermediate metabolites (adducts of DNA with chemicals) important in mutagenesis, carcinogenesis, and teratogenesis.


Down Syndrome Fanconi Anemia Polycythemia Vera Clinical Genetic Xeroderma Pigmentosum 
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Copyright information

© Plenum Press, New York 1984

Authors and Affiliations

  • John J. Mulvihill
    • 1
  1. 1.Clinical Genetics Section, Clinical Epidemiology BranchNational Cancer Institute, NIHBethesdaUSA

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