© 1999 by Oxford University Press
Journal of the National Cancer Institute Monographs, No. 26, 95-100,
1999
© 1999 Oxford University Press
IV. APPLICATIONS PANEL |
Design and Analysis Issues in a Population-Based, Case-Control-Family Study of the Genetic Epidemiology of Breast Cancer and the Co-operative Family Registry for Breast Cancer Studies (CFRBCS)
Affiliation of authors: J. L. Hopper, D. J. Jolley, G. S. Dite, M. A. Jenkins, Centre for Genetic Epidemiology, The University of Melbourne, Carlton, Australia; G. Chenevix-Trench, Queensland Institute of Medical Research, and Department of Pathology, University of Queensland, Herston, Australia; D. J. Venter, Department of Pathology and Research, Peter MacCallum Cancer Institute, Melbourne, Australia; M. R. E. McCredie, New South Wales Cancer Council, Woolloomooloo, Australia, Department of Preventive and Social Medicine, University of Otago, Dunedin, New Zealand; G. G. Giles, Cancer Epidemiology Centre, The Anti-Cancer Council of Victoria, Carlton, Australia.
Correspondence to: John L. Hopper, Ph.D., The University of Melbourne, Centre for Genetic Epidemiology, 200 Berkeley St., Carlton, Victoria 3053, Australia (e-mail: j.hopper{at}gpph.unimelb.edu.au).
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.
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