National Cancer Institute
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Colon Cancer Family Registry Cohort (Colon CFR)

Cohort Collaboration Contact

If interested in collaborating with the cohort on a project, please contact:

Principal Investigators

  • Robert W. Haile, DrPH (Cedars-Sinai Medical Center)
  • Mark A. Jenkins, PhD (The University of Melbourne)
  • Noralane M. Lindor, MD (The Mayo Clinic)
  • Polly A. Newcomb, PhD, MPH (Fred Hutchinson Cancer Research Center)
  • Steven Gallinger, MD (Sinai Health System)
  • Loic Le Marchand, MD, PhD (University of Hawaii Cancer Center)
Cohort Website

The Colon Cancer Family Registry (CCFR) began recruiting families with and without colorectal cancer (CRC) in 1997. Beginning in 2013, the CCFR received funding through PAR-10-283: Core Infrastructure and Methodological Research for Cancer Epidemiology Cohorts (CEC) and was restructured to a cohort study design. CCFR cohort subjects (with the exception of population-based controls) are re-contacted every 5 years to complete a follow-up questionnaire. Of the overall cohort, 10,772 population-based case probands had a verified CRC. Blood has been collected from 8,712 of these participants and tumor blocks from 8,008. Since completing the baseline survey, 4,219 enrolled cohort subjects have been diagnosed with an incident cancer. A pre-diagnosis blood sample was collected from 3,293 and post-diagnosis blood sample was collected on 261. Of these 4,219, 759 are incident CRC cases, on whom a pre-diagnosis blood sample was collected on 626.

All CRC tumors have been characterized for mismatch repair (MMR) deficiency, and for BRAF p.V600E and KRAS codons 12 and 13 somatic mutations. Tumors showing loss of MLH1 protein expression were also tested for methylation of the MLH1 gene promoter. Germline mutation testing in MLH1, MSH2, MSH6, PMS2 and EPCAM genes was performed for participants with an MMR deficient CRC tumor. All CRC-affected participants, all population-based control participants and selected family-member control participants with a blood sample have been genotyped on genome wide SNP array platforms. Germline MutYH testing has been completed on all CRC-affected probands, family members of MutYH+ probands, and a sample of population-based controls. Test results are offered to cohort participants found to carry a pathogenic germline mutation in an MMR gene or in MUTYH via a genetic counselor or physician.

The Colon CFR includes lifestyle, medical history, and family history data collected from over 37,000 men and women from 10,772 families with colorectal cancer. The first 5-year follow-up has been completed by 27,941 participants (84% response rate), the second (10-year) by 18,604 (89% response rate) and the third (15-year) by 7,701 (91% response rate). 7,019 participants have died since completing the baseline questionnaire. Date of death and cause of death have been recorded.