Systematic analysis of Mendelian disease-associated gene variants reveals new classes of cancer-predisposing genes.

ABSTRACT:

Background

Despite the acceleration of somatic driver gene discovery facilitated by recent large-scale tumor sequencing data, the contribution of inherited variants remains largely unexplored, primarily focusing on previously known cancer predisposition genes (CPGs) due to the low statistical power associated with detecting rare pathogenic variant-phenotype associations.

Methods

Here, we introduce a generalized log-regression model to measure the excess of pathogenic variants within genes in cancer patients compared to control samples. It aims to measure gene-level cancer risk enrichment by collapsing rare pathogenic variants after controlling the population differences across samples.

Results

In this study, we investigate whether pathogenic variants in Mendelian dise

SUBMITTER: Song S 

PROVIDER: S-EPMC10749499 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature