Oncogenetic pedigrees: relation between design and ability to predict mutation - Archive ouverte HAL
Pré-Publication, Document De Travail Année : 2022

Oncogenetic pedigrees: relation between design and ability to predict mutation

Résumé

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 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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Dates et versions

hal-03718746 , version 1 (09-07-2022)

Identifiants

  • HAL Id : hal-03718746 , version 1

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Fabrice Kwiatkowski, Laurent Serlet, Andrzej Stos. Oncogenetic pedigrees: relation between design and ability to predict mutation. 2022. ⟨hal-03718746⟩
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