Joshua Arbesman

Population-based Characterization of PTEN Hamartoma Tumor Syndrome

The paper identifies 55 individuals with pathogenic PTEN variants in a population-based cohort, revealing higher prevalence and broader clinical features of PHTS than previously recognized.

XPC loss-of-function triggers melanomagenesis through CDKN2A downregulation

This study identifies an XPC variant that promotes melanomagenesis by downregulating CDKN2A through promoter binding, independent of its nucleotide excision repair function.

Prevalence of Pathogenic Germline Variants in Cancer Susceptibility Genes using the All of Us Dataset

The paper analyzes pathogenic germline variants in cancer susceptibility genes across a large population using the All of Us dataset, finding 5.05% prevalence with significant racial variation.