Sergi Castellvı́-Bel

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 improves polygenic risk scores for colorectal cancer by combining Asian and European ancestry data, enhancing risk prediction across diverse racial and ethnic groups.

This study identifies 13 new genetic loci specific to proximal or distal colorectal cancer subtypes, revealing partly distinct genetic architectures for these tumor locations.

This study uses Mendelian randomization to show that higher physical activity levels are associated with lower risks of breast and colorectal cancer.

CNApp quantifies genomic copy number alterations in cancer and integrates them with clinical and molecular data to identify clinical implications.