Advanced technology for mutation detection, the cloning of several cancer susceptibility genes, and high-throughput sequencing of genes make obsolete many of the previous and some of the current research strategies in the genetic epidemiology of cancer. In addition, the clinical implications of inherited mutations will need to be defined and communicated to health care providers and cancer genetics professionals. To provide an infrastructure for studies in human cancer genetics of unprecedented size and complexity, the National Cancer Institute has initiated the Cooperative Family Registry for Breast and Colon Cancer Studies (CFRBCCS). Integral to this effort will be a state-of-the-art Informatics Center (IC), that will develop, implement, and maintain a central informatics system and provide technical expertise for the development of information technologies, statistical methodology, and study design. Collectively, the University of California at Irvine (UCI), Dartmouth Medical School, and the University of Southern California have extensive experience in developing information management systems, participating in and coordinating multi-center research efforts, and developing advanced techniques in biostatistics. Further, leading international experts in biostatistics, genetic epidemiology, and molecular genetics will participate as members in the Biostatistics, Genetics, and Epidemiology Consortium, to provide technical expertise to CFRBCCS researchers.
Our specific aims are: 1) Develop, implement, and maintain a single central informatics system at UCI, 2) Provide summary data, support, and coordination for the CFRBCCS registries, 3) Provide technical expertise regarding statistical issues, study design, methodology, and information technologies for the Registries, through an international consortium of leading experts in biostatistics, genetic epidemiology, and molecular genetics, 4) Carry out the responsibility for the CFRBCCS Study-wide communication, coordination, and administrative duties.

National Institute of Health (NIH)
National Cancer Institute (NCI)
Research Project--Cooperative Agreements (U01)
Project #
Application #
Study Section
Special Emphasis Panel (ZCA1-RLB-K (J1))
Program Officer
Seminara, Daniela
Project Start
Project End
Budget Start
Budget End
Support Year
Fiscal Year
Total Cost
Indirect Cost
University of California Irvine
Internal Medicine/Medicine
Schools of Medicine
United States
Zip Code
Keogh, Louise A; Fisher, Douglass; Sheinfeld Gorin, Sherri et al. (2014) How do researchers manage genetic results in practice? The experience of the multinational Colon Cancer Family Registry. J Community Genet 5:99-108
Scherer, Dominique; Koepl, Lisel M; Poole, Elizabeth M et al. (2014) Genetic variation in UGT genes modify the associations of NSAIDs with risk of colorectal cancer: colon cancer family registry. Genes Chromosomes Cancer 53:568-78
Resler, Alexa J; Makar, Karen W; Heath, Laura et al. (2014) Genetic variation in prostaglandin synthesis and related pathways, NSAID use and colorectal cancer risk in the Colon Cancer Family Registry. Carcinogenesis 35:2121-6
Adams, Scott V; Ahnen, Dennis J; Baron, John A et al. (2013) Survival after inflammatory bowel disease-associated colorectal cancer in the Colon Cancer Family Registry. World J Gastroenterol 19:3241-8
Jiang, Xuejuan; Castelao, J Esteban; Vandenberg, David et al. (2013) Genetic variations in SMAD7 are associated with colorectal cancer risk in the colon cancer family registry. PLoS One 8:e60464
Seufert, Brenna L; Poole, Elizabeth M; Whitton, John et al. (2013) I?BK? and NF?B1, NSAID use and risk of colorectal cancer in the Colon Cancer Family Registry. Carcinogenesis 34:79-85
Thompson, Bryony A; Goldgar, David E; Paterson, Carol et al. (2013) A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry. Hum Mutat 34:200-9
DeRycke, Melissa S; Gunawardena, Shanaka R; Middha, Sumit et al. (2013) Identification of novel variants in colorectal cancer families by high-throughput exome sequencing. Cancer Epidemiol Biomarkers Prev 22:1239-51
Makar, Karen W; Poole, Elizabeth M; Resler, Alexa J et al. (2013) COX-1 (PTGS1) and COX-2 (PTGS2) polymorphisms, NSAID interactions, and risk of colon and rectal cancers in two independent populations. Cancer Causes Control 24:2059-75
Ward, Robyn L; Dobbins, Timothy; Lindor, Noralane M et al. (2013) Identification of constitutional MLH1 epimutations and promoter variants in colorectal cancer patients from the Colon Cancer Family Registry. Genet Med 15:25-35

Showing the most recent 10 out of 32 publications