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Estimates of familial risks from family data are biased when ascertainment of families is not independent of family history
  1. Aung Ko Win,
  2. John L Hopper,
  3. Mark A Jenkins
  1. Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, The University of Melbourne, Parkville, Victoria, Australia
  1. Correspondence to Dr Mark A Jenkins, Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, School of Population Health, Level 1, 723 Swanston Street, The University of Melbourne, VIC 3010 Australia; m.jenkins{at}

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In estimating familial risks from family data one must be careful that ascertainment of families does not depend on family history, otherwise the estimates might not be applicable even to the setting from which the families were ascertained. In this regard, Boparai et al1 reported the largest study to date examining the risk of colorectal cancer (CRC) and hyperplastic polyposis syndrome (HPS) for first-degree relatives (FDRs) of HPS patients. They found that the FDRs of the studied HPS patients had five times the incidence of CRC (relative risk, RR=5.4; 95% CI 3.7 to 7.8), and 39 times the incidence of HPS (RR=39; 95% CI 13 to 121) compared to people from the general population. They interpreted the RR estimates as applying to relatives of …

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  • Competing interests None.

  • Provenance and peer review Not commissioned; not externally peer reviewed.

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    K S Boparai J B Reitsma E Dekker