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

Familial Cancer
John Michael O RanolaBrian H Shirts

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 s...Continue Reading

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Jul 12, 2017·Familial Cancer·John Michael O RañolaBrian H Shirts

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Methods Mentioned

BETA
genotyping

Clinical Trials Mentioned

NCT01850654

Software Mentioned

LDlink
R Package CoSeg

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