Marry M. van den Heuvel‐Eibrink

This study identifies biallelic germline variants in MCM8 and MCM9 as linked to polyposis, gastric cancer, early-onset colorectal cancer, and hypogonadism, with MCM9 variants showing stronger associations.

This study creates an engineered tumor organoid model of tRCC using SFPQ-TFE3 fusion expression, revealing epithelium-to-mesenchymal differentiation and Wnt signaling involvement in tumor transformation.

The paper identifies prevalent and pathogenic complex structural variations in pediatric solid tumors, linking them to adverse clinical outcomes and potential therapeutic targets.