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As a result of the successful completion of the human genome project [1–3] there is an opportunity to identify heritable risk factors for cancer on an unprecedented scale. Although there are acknowledged exceptions, such as the genetic identification of women at high risk for breast and ovarian cancers , and genetic profiles for prognostic subtypes of breast cancer , the specific nature of the heritable risk factors for cancer remains elusive. The characterization of molecular markers for cancer has the potential to improve disease surveillance, treatment optimization, prediction of response to therapy (pharmacogenetics), and drug discovery (pharmacogenomics) . The benefits of such research to individuals and society are likely substantial.
An integral feature of molecular epidemiology as an NCI priority area is the planning and development of strategic partnerships that link epidemiologists with geneticists and other investigators from the clinical, basic and population scientists . Large-scale epidemiological studies will be needed for the full potential of genomic studies to be realized, including individualized cancer prevention based on testing for genetic susceptibilities, the improvement in cancer classification, and the generation of innovative therapies targeted to molecular mechanisms. Population-based clinical and epidemiologic studies are urgently needed to assess the impact of the thousands of genetic variants (and their interactions with modifiable risk factors) on the burden of cancer (incidence, prevalence, as well as morbidity, disability and mortality). A sound population-based epidemiologic approach to genomics is now needed for common complex disorders attributed to gene-environment interactions as a scientific basis for using genetic information in health care and disease prevention .
Population-based cancer registries, such as those included in the SEER Program, offer tremendous research potential beyond traditional surveillance activities [9,10]. In 2001, the SEER Program provided supplementation of the Hawaii, Iowa, and Los Angeles County registry contracts to gather tissue from cancer cases within these geographic areas. Population-based tissue banks have the advantage of providing an unbiased sampling frame for evaluating the public health impact of genes or protein targets that may be used for therapeutic or diagnostic purposes in defined communities. Such repositories provide a unique resource for testing new molecular classification schemes for cancer, validating new biologic markers of malignancy, prognosis and progression, and assessing therapeutic targets.
The collection of genomic DNA constitutes the next logical step toward increasing the utility of SEER registries. Such collection will allow researchers to measure allele frequencies of cancer-associated genetic polymorphisms or germline mutations in representative samples. Access to DNA specimens through SEER registries will provide researchers with demographic, clinical, and risk factor information on cancer patients with assured data quality and completeness. Clinical outcome data, such as disease-free survival, can be correlated with specific genetic mutations and tissue profiles. Furthermore, the anonymity of the study subject can be protected through rigorous standards of confidentiality. SEER-based DNA resources represent a step forward in true, population-based DNA repositories from United States’ patients and may serve as a foundation for molecular epidemiology studies of cancer in this country.
The aim of this study is to establish a large SEER-based cohort, recruited from the general population of cancer cases across the State of Hawaii, as a resource for studying the genetics of cancer in areas of current and projected public health importance. DNA and non-identifiable information from this cohort will be made available to researchers locally and nationally. Ultimately, it is intended that this work extend to other population-based cancer registries in the United States. The specific objectives are: