The colon cancer family registry cohort

Mark A. Jenkins, Aung K. Win, Noralane M. Lindor

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Scopus citations


The Colon Cancer Family Registry Cohort (CCFRC) was established in 1997 for NIH stated purposes of research on the genetic and environmental aetiology of colorectal cancer and the identification of individuals who, because of their high risk, could benefit from preventive strategies. A case-control-family design was utilised to enhance genetic as well as environmental research, including gene discovery and characterisation, and to evaluate modifiers of genetic risk. The 42,489 study participants from 15,049 families were recruited between 1998 and 2012 in the USA, Canada, Australia and New Zealand including recently diagnosed colorectal cancer cases from population-based cancer registries, controls from populationbased sources, patients from family cancer clinics with a strong family history of colorectal cancer or young-onset disease and their relatives, both those affected and those unaffected by cancer. At baseline, participants provided a blood/buccal wash sample and access to medical records and tumour specimens and completed a detailed risk factor questionnaire (height, weight, alcohol use, smoking, physical activity, medication use, diet, screening, cancer diagnoses, detailed family history of cancer). Every 4-5 years after baseline, all population-based case-families and clinic-based families were followed up for updates on their personal and family history of cancer as well as history of surgery, cancer screening and some risk factors. The total follow-up of 37,436 participants covers 339,000 person-years (277,000 via direct survey of participants and 62,000 via interview of participating relatives). During follow-up, 824 (2.2%) participants were diagnosed with a colorectal cancer and 3582 (9.5%) were diagnosed with a non-colorectal cancer. Participants have had germline testing for major colorectal cancer genetic syndromes (Lynch syndrome and MUTYH) and undergone genome-wide SNP genotyping. Colorectal cancer cases were tested for major somatic alterations, for clinically relevant molecular subtypes, including tumour microsatellite instability, mismatch repair protein loss in immunohistochemistry, the common somatic KRAS and BRAF variants, MLH1 methylation and CpG island methylator phenotype (CIMP). Data and biospecimens are available for collaborative research and have been utilised for over 400 publications and approximately 300 projects (53% are external investigator-driven projects) - see

Original languageEnglish (US)
Title of host publicationHereditary Colorectal Cancer
Subtitle of host publicationGenetic Basis and Clinical Implications
PublisherSpringer International Publishing
Number of pages33
ISBN (Electronic)9783319742595
ISBN (Print)9783319742588
StatePublished - Jan 1 2018


  • Cohort
  • Colorectal cancer
  • Family history
  • Family study
  • Lynch syndrome
  • Risk factors

ASJC Scopus subject areas

  • Medicine(all)
  • Biochemistry, Genetics and Molecular Biology(all)


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