Collaborator: Yale New Haven Health

• Yale criteria for genetic testing in cases of suspected Hereditary Diffuse Gastric Cancer (HDGC) are more sensitive than IGCLC and ERN GENTURIS criteria in a large American cohort

  April 2, 2026

• De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

• Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes

  Abstract Germline variants in tumor suppressor genes (TSGs) can result in RNA mis-splicing and predisposition to cancer. However, identification of variants that impact splicing remains a challenge, contributing to a substantial proportion of patients with suspected hereditary cancer syndromes remaining without a molecular diagnosis. To address this, we used capture RNA-sequencing (RNA-seq) to generate a…