Uveal Melanoma in BAP1 Tumor Predisposition Syndrome: Estimation of Risk.

ABSTRACT:

Purpose

To estimate point prevalence of uveal melanoma in the patients with germline BAP1 pathogenic variant.

Design

Cohort study with risk assessment using Bayesian analysis.

Methods

The point prevalence estimate was obtained by Bayes's rule of reverse conditional probabilities. The probability of uveal melanoma given that BAP1 mutation exists was derived from the prevalence of uveal melanoma, prevalence of germline BAP1 pathogenic variants, and the probability of germline BAP1 pathogenic variant given that uveal melanoma is present. Confidence intervals (CIs) for each variable were calculated as the mean of Bernoulli random variables and for the risk estimate, by the delta method. The age at diagnosis and the gender of the uveal melanoma patients with BAP1 germline

SUBMITTER: Singh N 

PROVIDER: S-EPMC8059106 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature