Genetic and environmental risk factors contribute to the occurrence of most common cancers (1). Moreover, these relationships with cancer risk are complicated by the fact that the spectrum of risk factors may depend on the specific cancer subtype. For example, different genetic loci are associated with risk of specific breast cancer subtypes (2). Beyond genetic risk factors, researchers are now increasingly interested in incorporating –omic technologies (proteomics, metabolomics, microbiomics, etc.) (3) into epidemiologic studies to better understand cancer risk, response to treatment, and outcomes.
Studying the complex interplay of genetic and environmental risk factors with specific cancers and their subtypes requires both biospecimens and large sample sizes. In an era of tightening research budgets, a strategy is to leverage existing biospecimen resources for collaborative research. Using such resources may also be an effective strategy for new investigators rather than proposing to launch new recruitment with specimen collection.
Biospecimens are samples of tissue, blood, urine, or other human-derived material (4). These may be split into aliquots, or smaller samples, for use in genomic and biomarker studies. Investigators supported by the Epidemiology and Genomics Research Program (EGRP) (5) in NCI’s Division of Cancer Control and Population Sciences (DCCPS), typically collect blood or saliva to generate a source of germline DNA to study the relationship between genes and cancer. Additionally, other markers may be measured in other blood components that may reflect environmental exposures or a biological pathway. Tumor tissue is essential for classification of cancer types.
EGRP staff are interested in promoting collaborations, specifically around biospecimens and data sharing. There are several studies that leverage existing biospecimens. These specimens are often available with associated epidemiological data. We have assembled a list of several potential sources of biospecimens for investigators on a Webpage (6). Access to samples may depend on the suitability of proposed research, collaboration with study investigators, ethical considerations, approval from a steering committee, or availability of samples to perform the study.
Not only will external collaborators benefit from these collaborations but so will the investigators who contributed the samples. For example, since 1997, the Colon Cancer Family Registry (Colon CFR) (7) has invited proposals for research collaborations with investigators outside of the Colon CFR. More than 200 projects (including both data only and biospecimens with associated data) have been approved since the inception of the registry. Of these, 106 studies were led by external investigators who did not have a direct funding relationship with the Colon CFR. These collaborations have resulted in 280 publications, ranging from identification of genetic factors related to cancer risk to translational studies addressing clinical, behavioral, and preventive aspects of colon and other cancers.
Collaboration and sharing of biospecimens has been crucial to the success of genome-wide association studies (GWAS) (8) and in making progress on the role of other potential risk factors for cancer. One such example was the Vitamin D Pooling Project (9) of the NCI Cohort Consortium. Continuing to foster such epidemiological and clinical research in an era of biologically rich data will lead to new discoveries and accelerate the translation of this research into clinical and public health practice.
Tell Us What You Are Thinking
If you are aware of other resources that are not listed on our Webpage, Biospecimen Resources for Population Scientists, please let us know, and we will consider including them in the future. You may submit your comments below. We look forward to hearing from you!
Leah E. Mechanic, Ph.D., M.P.H. (Left), Program Director, Host Susceptibility Factors Branch (10), EGRP, DCCPS (11), NCI (12); and Sheri D. Schully, Ph.D. (Right), Knowledge Integration Team Lead, Office of the Associate Director (13), EGRP, DCCPS, NCI