Genetic Susceptibility Studies
The recent identification of genes associated with susceptibility to breast, colon, or other cancers highlights the importance of identifying families with hereditary patterns of cancer. Familial cancer registries are an important tool enabling researchers to identify genetic and environmental changes that modify cancer risk and apply the resulting knowledge to cancer prevention and control. The Breast and Colon Cancer Family Registries were established in 1997 as an international consortium to provide a research infrastructure for genetic and epidemiologic studies of these and related cancers, including characterization of already known genes and identification of new genes. The twelve participating institutions collect and maintain detailed information about cancer risk factors and molecular and clinical information from nearly 15,000 families and more than 6,000 population controls. A repository of blood and tissue samples from family members also has been established for research purposes. The SEER registry infrastructure has been critical both to the recruitment of these families and to the retrieval of related cancer data. Various interdisciplinary studies is underway, the results of which ultimately will be applied to the design of targeted preventive and therapeutic interventions.
The Women's Environment, Cancer, and Radiation Epidemiology (WECARE) Study is a multicenter, population-based study of women with breast cancer that is investigating gene-environment interactions that may influence susceptibility to this disease. The study has established a repository of epidemiologic risk factor information and biologic specimens from 2,100 women drawn from five population-based tumor registries in the United States and Europe. Beyond the major research questions that are the focus of these registries, issues such as informed consent and standardization of methods critical to conducting studies that use families across multiple centers also are being addressed. In addition, researchers are being afforded the opportunity to examine questions that surround the validity of family history data and optimal designs for estimating the frequency of mutations of disease-susceptibility genes.
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