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Article

Estimating penetrance from multiple case families with predisposing mutations: extension of the 'genotype-restricted likelihood' (GRL) method.

European journal of human genetics : EJHG - 1 Feb 2011

Bonaïti Bernard, Bonadona Valérie, Perdry Hervé, Andrieu Nadine, Bonaïti-Pellié Catherine

Abstract excerpt

Some diseases are due to germline mutations in predisposing genes, such as cancer family syndromes. Precise estimation of the age-specific cumulative risk (penetrance) for mutation carriers is essential for defining prevention strategies. The genotype-restricted likelihood (GRL) method is aimed at estimating penetrance from multiple case families with such a mutation. In this paper, we proposed an extension of...

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Identifiers

PMID: 20924409
DOI: 10.1038/ejhg.2010.158
PMCID: PMC3025788

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