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Table of Contents
Vol. 51, No. 1-2, 2001
Issue release date: October 2000
Section title: Original Paper
Hum Hered 2001;51:23–26
(DOI:10.1159/000022955)

Ascertainment and Anticipation in Family Studies

Hoh J.c · Heitjan D.F.a · Mérette C.b · Ott J.c
aDivision of Biostatistics, Columbia University, New York, N.Y., USA, bCentre de Recherche, Université Laval Robert-Giffard, Beauport, Quebec, Canada, cLaboratory of Statistical Genetics, Rockefeller University, New York, N.Y., USA

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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Published online: October 30, 2000
Issue release date: October 2000

Number of Print Pages: 4
Number of Figures: 1
Number of Tables: 1

ISSN: 0001-5652 (Print)
eISSN: 1423-0062 (Online)

For additional information: http://www.karger.com/HHE

Abstract

Many human diseases show anticipation; that is, disease occurs earlier (or with greater severity) in successive generations. In a computer simulation, we assessed the degree of anticipation that one would expect to see in two-generation breast cancer families. Under reasonable assumed distributions for age at cancer onset, number of children, and mortality, we find a consistent earlier mean age at diagnosis in daughters than in mothers, but the same mean age at diagnosis in affected aunts and nieces. We compare these results with published pedigree data for familial breast cancer that show substantial anticipation in affected daughters compared to their mothers. We find that at least some anticipation is expected in human disease families even when the disease is stable and families are ascertained without obvious sampling bias. We further demonstrate that such anticipation is reduced when comparing affected children to the parents’ affected siblings.

© 2000 S. Karger AG, Basel


Article / Publication Details

First-Page Preview
Abstract of Original Paper

Published online: October 30, 2000
Issue release date: October 2000

Number of Print Pages: 4
Number of Figures: 1
Number of Tables: 1

ISSN: 0001-5652 (Print)
eISSN: 1423-0062 (Online)

For additional information: http://www.karger.com/HHE


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