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Article

Designing studies to estimate the penetrance of an identified autosomal dominant mutation: cohort, case-control, and genotyped-proband designs.

Genetic epidemiology - 1 Jan 1999

Gail M H, Pee D, Benichou J, Carroll R

Abstract excerpt

One can obtain population-based estimates of the penetrance of a measurable mutation from cohort studies, from population-based case-control studies, and from genotyped-proband designs (GPD). In a GPD, we assume that representative individuals (probands) agree to be genotyped, and one then obtains information on the phenotypes of first-degree relatives. We also consider an extension of the GPD in which a relative...

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Source

Identifiers

PMID: 9915565
DOI: 10.1002/(SICI)1098-2272(1999)16:1<15::AID-GEPI3>3.0.CO;2-8

Genes

BRCA1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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