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Modified capture–recapture estimates of the number of families with Lynch syndrome in Central Ohio

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Abstract

Past methods for estimating the population frequency of familial cancer syndromes have used cases and controls ignoring the familial nature of genetic disease. In this study we modified the capture–recapture method from ecology to estimate the number of families in central Ohio with Lynch syndrome (LS). We screened 1566 colorectal cancer cases and 545 endometrial cancer cases in central Ohio from 1999 to 2005 and identified 58 with LS. We screened an additional 3346 colorectal and 342 endometrial cancer cases from 2013 to 2016 and identified 149 with LS. We found 12 LS mutations shared between families observed in the first and second studies. We identified three individuals between studies who were closely related and eight who were more distantly related. We used identified family relationships and genetic test results to estimate family size and structure. Applying a modified capture–recapture method we estimate 1693 3-generation families in the area who have 288 unique LS causing mutations. Comprehensive colorectal and endometrial cancer screening will take about 20 years to identify 50% of families with LS. This is the first time that the capture–recapture method has been applied to estimate the burden of families with a specific heritable disease. Family structure reveals the potential extent of prevention and the time necessary to identify a proportion of families with LS.

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Acknowledgements

The Ohio Colorectal Cancer Prevention Initiative is supported by Pelotonia, http://pelotonia.org/. Brian Shirts and John Ranola are supported by Damon Runyon Cancer Research Foundation (DRR-33-15) and by development funds from the Fred Hutch/University of Washington Cancer Consortium (NCI 5P30 CA015704-39).

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Author notes

  1. John Michael O. Ranola and Rachel Pearlman are co-first authors, these authors contributed equally to this work.

Authors and Affiliations

  1. Department of Laboratory Medicine, University of Washington, 1959 NE Pacific Street, NW120, Box 357110, Seattle, WA, 98195-7110, USA

    John Michael O. Ranola & Brian H. Shirts

  2. Department of Internal Medicine and the Comprehensive Cancer Center, The Ohio State University, Columbus, OH, USA

    Rachel Pearlman & Heather Hampel

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  1. John Michael O. Ranola
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  2. Rachel Pearlman
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Correspondence to Brian H. Shirts.

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Ranola, J.M.O., Pearlman, R., Hampel, H. et al. Modified capture–recapture estimates of the number of families with Lynch syndrome in Central Ohio. Familial Cancer 18, 67–73 (2019). https://doi.org/10.1007/s10689-018-0096-0

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