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Oncogenetic pedigrees: Relation between design and ability to predict mutation
Fabrice Kwiatkowski1, Laurent Serlet1, Andrzej Stos1
1Université Clermont Auvergne, CNRS, Laboratoire de Mathématiques Blaise Pascal (UMR 6620), F-63000, Clermont-Ferrand, France.
Abstract:
We consider the risk of a disease caused by the presence within the genome of one deleterious mutation or two interacting mutations. For an individual, the probability of being mutated/doubly mutated can be estimated by knowing the phenotype of the other members in the family pedigree. We study the performance of this process as a function of the size, the shape of the family tree and the parameters of the model. We carry out simulations using the parameters pertaining to breast/ovarian cancer in BRCA-mutated families.
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