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26 April 2024 |
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Article overview
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Bayesian Semiparametric Estimation of Cancer-specific Age-at-onset Penetrance with Application to Li-Fraumeni Syndrome | | Seung Jun Shin
; Louise C. Strong
; Jasmina Bojadzieva
; Wenyi Wang
; Ying Yuan
; | | Date: |
6 Jan 2017 | | Abstract: | Penetrance, which plays a key role in genetic research, is defined as the
proportion of individuals with the genetic variants (i.e., {genotype}) that
cause a particular trait and who have clinical symptoms of the trait (i.e.,
{phenotype}). We propose a Bayesian semiparametric approach to estimate the
cancer-specific age-at-onset penetrance in the presence of the competing risk
of multiple cancers. We employ a Bayesian semiparametric competing risk model
to model the duration until individuals in a high-risk group develop different
cancers, and accommodate family data using family-wise likelihoods. We tackle
the ascertainment bias arising when family data are collected through probands
in a high-risk population in which disease cases are more likely to be
observed. We apply the proposed method to a cohort of 186 families with
Li-Fraumeni syndrome identified through probands with sarcoma treated at MD
Anderson Cancer Center from 1944 to 1982. | | Source: | arXiv, 1701.1558 | | Services: | Forum | Review | PDF | Favorites | |
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