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

Samir Gupta, Balambal Bharti, Dennis J. Ahnen, Daniel D. Buchanan, Iona C. Cheng, Michelle Cotterchio, Jane C. Figueiredo, Steven J. Gallinger, Robert W. Haile, Mark A. Jenkins, Noralane M. Lindor, Finlay A. Macrae, Loïc Le Marchand, Polly A. Newcomb, Stephen N. Thibodeau, Aung Ko Win, Maria Elena Martinez

Research output: Contribution to journalArticlepeer-review

8 Scopus citations


Background: 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. Methods: 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. Results: 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. Conclusions: 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.

Original languageEnglish (US)
Pages (from-to)3013-3020
Number of pages8
Issue number13
StatePublished - Jul 1 2020


  • case-control study
  • family history
  • guidelines
  • sensitivity
  • specificity
  • young-onset colorectal cancer

ASJC Scopus subject areas

  • Oncology
  • Cancer Research


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