Abstract

BACKGROUND: Historically, studies of the “genetic epidemiology” of cancer have used nonsystematically sampled kindreds with numerous cases of cancer across multiple generations. From the epidemiologic viewpoint, it is difficult to extrapolate findings to the population because of the ad hoc ascertainment of these atypical, ill-defined families. Since 1992, we have been conducting a population-based, case-control-family study of breast cancer. METHODS: Families are identified through a single, population-sampled proband, who is either affected or unaffected, making adjustment for ascertainment straightforward. Administered questionnaires and blood samples are sought from cases, controls, and specified sets of relatives. From 1996 through 1999, a further 1200 case families have been recruited as part of the Co-operative Family Registry for Breast Cancer Studies (CFRBCS). Issues relevant to the study design and analysis are discussed. RESULTS: Epidemiologic and genetic findings published to date are summarized. In particular, this population-based study has shown that the so-called “ high-risk” families containing multiple cases of breast cancer are not typical of families in the general population in which BRCA1 or BRCA2 mutations are segregating. Most “hereditary” cancers are “sporadic.” CONCLUSION: The collection of DNA, as well as data on disease status and risk factors, from population-sampled sets of relatives provides a powerful resource for addressing genetic and environmental determinants of cancer. A population-based multicenter, multidisciplinary enterprise, such as has been developed by the CFRBCS, may become a model for future research in cancer epidemiology, allowing genetic and environmental risk factors to be put into a proper population perspective. Oxford University Press « Previous | Next Article » Table of Contents This Article J Natl Cancer Inst Monogr (1999) 1999 (26): 95-100. This article appears in: Innovative Study Designs and Analytic Approaches to the Genetic Epidemiology of Cancer » Abstract Free Full Text (HTML) Free Full Text (PDF) Free Classifications IV. APPLICATIONS PANEL Services Article metrics Alert me when cited Alert me if corrected Find similar articles Similar articles in Web of Science Similar articles in PubMed Add to my archive Download citation Request Permissions Citing Articles Load citing article information Citing articles via CrossRef Citing articles via Scopus Citing articles via Web of Science Citing articles via Google Scholar Google Scholar Articles by Hopper, J. L. Articles by Giles, G. G. Search for related content PubMed PubMed citation Articles by Hopper, J. L. Articles by Chenevix-Trench, G. Articles by Jolley, D. J. Articles by Dite, G. S. Articles by Jenkins, M. A. Articles by Venter, D. J. Articles by McCredie, M. R. E. Articles by Giles, G. G. 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