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Potential impact of family history-based screening guidelines on the detection of early-onset colorectal cancer.

  • Gupta, Samir1, 2, 3
  • Bharti, Balambal2, 3
  • Ahnen, Dennis J4, 5
  • Buchanan, Daniel D6, 7, 8
  • Cheng, Iona C9
  • Cotterchio, Michelle10
  • Figueiredo, Jane C11
  • Gallinger, Steven J12
  • Haile, Robert W11
  • Jenkins, Mark A7, 13
  • Lindor, Noralane M14
  • Macrae, Finlay A15
  • Le Marchand, Loïc16
  • Newcomb, Polly A17
  • Thibodeau, Stephen N18
  • Win, Aung Ko7, 13
  • Martinez, Maria Elena3, 19
  • 1 Section of Gastroenterology, San Diego Veterans Affairs Healthcare System, San Diego, California.
  • 2 Department of Medicine, University of California at San Diego, La Jolla, California.
  • 3 Moores Cancer Center, University of California at San Diego, La Jolla, California.
  • 4 Department of Medicine, Division of Gastroenterology & Hepatology, University of Colorado Anschutz Medical Center, Aurora, Colorado.
  • 5 Gastroenterology of the Rockies, Boulder, Colorado.
  • 6 Colorectal Oncogenomics Group, Department of Clinical Pathology, The University of Melbourne, Parkville, Victoria, Australia. , (Australia)
  • 7 University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Parkville, Victoria, Australia. , (Australia)
  • 8 Genomic Medicine and Family Cancer Clinic, Royal Melbourne Hospital, Parkville, Victoria, Australia. , (Australia)
  • 9 Department of Epidemiology and Biostatistics, University of California at San Francisco, San Francisco, California.
  • 10 Prevention and Cancer Control, Cancer Care Ontario, Toronto, Ontario, Canada. , (Canada)
  • 11 Department of Medicine, Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, California.
  • 12 Department of Surgery, Mount Sinai Hospital, Toronto, Ontario, Canada. , (Canada)
  • 13 Centre for Epidemiology and Biostatistics, School of Population and Global Health, The University of Melbourne, Parkville, Victoria, Australia. , (Australia)
  • 14 Department of Health Sciences Research, Mayo Clinic, Scottsdale, Arizona.
  • 15 Colorectal Medicine and Genetics, Department of Medicine, University of Melbourne, The Royal Melbourne Hospital, Melbourne, Victoria, Australia. , (Australia)
  • 16 Epidemiology Program, Research Cancer Center of Hawaii, University of Hawaii, Honolulu, Hawaii.
  • 17 Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington.
  • 18 Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.
  • 19 Department of Family Medicine and Public Health, University of California at San Diego, La Jolla, California.
Published Article
Wiley (John Wiley & Sons)
Publication Date
Apr 20, 2020
DOI: 10.1002/cncr.32851
PMID: 32307706


Initiating screening at an earlier age based on cancer family history is one of the primary recommended strategies for the prevention and detection of early-onset colorectal cancer (EOCRC), but data supporting the effectiveness of this approach are limited. The authors assessed the performance of family history-based guidelines for identifying individuals with EOCRC. The authors conducted a population-based, case-control study of individuals aged 40 to 49 years with (2473 individuals) and without (772 individuals) incident CRC in the Colon Cancer Family Registry from 1998 through 2007. They estimated the sensitivity and specificity of family history-based criteria jointly recommended by the American Cancer Society, the US Multi-Society Task Force on CRC, and the American College of Radiology in 2008 for early screening, and the age at which each participant could have been recommended screening initiation if these criteria had been applied. Family history-based early screening criteria were met by approximately 25% of cases (614 of 2473 cases) and 10% of controls (74 of 772 controls), with a sensitivity of 25% and a specificity of 90% for identifying EOCRC cases aged 40 to 49 years. Among 614 individuals meeting early screening criteria, 98.4% could have been recommended screening initiation at an age younger than the observed age of diagnosis. Of CRC cases aged 40 to 49 years, 1 in 4 met family history-based early screening criteria, and nearly all cases who met these criteria could have had CRC diagnosed earlier (or possibly even prevented) if earlier screening had been implemented as per family history-based guidelines. Additional strategies are needed to improve the detection and prevention of EOCRC for individuals not meeting family history criteria for early screening. © 2020 American Cancer Society.

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