Université Clermont Auvergne, CNRS, Laboratoire de Mathématiques Blaise Pascal (UMR 6620), F-63000, Clermont-Ferrand, France.
Université Clermont Auvergne, CNRS, Laboratoire de Mathématiques Blaise Pascal (UMR 6620), F-63000, Clermont-Ferrand, France.
Biosystems. 2023 Mar;225:104841. doi: 10.1016/j.biosystems.2023.104841. Epub 2023 Feb 4.
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.
我们考虑由基因组内一个有害突变或两个相互作用的突变引起的疾病风险。对于个体而言，可以通过了解家族系谱中其他成员的表型来估计其发生突变/双重突变的概率。我们研究了该过程作为家族树的大小、形状和模型参数的函数的性能。我们使用与 BRCA 突变家族中的乳腺癌/卵巢癌相关的参数进行了模拟。
