Joshua Arbesman

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.

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

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.