D. Torrents

The Minimal Dataset for Cancer of the 1+Million Genomes Initiative

The paper develops a standardized data model for cancer genomics to enable interoperable data sharing across countries.

Enhancer hijacking determines intra- and extrachromosomal circular MYCN amplicon architecture in neuroblastoma

The paper identifies two distinct MYCN amplicon structures in neuroblastoma, showing how enhancer hijacking compensates for loss of local regulatory elements.

Chromatin activation as a unifying principle underlying pathogenic mechanisms in multiple myeloma

The paper identifies aberrant chromatin activation as a common mechanism driving the malignant phenotype in multiple myeloma.

A cancer-associated polymorphism in ESCRT-III disrupts the abscission checkpoint and promotes genome instability

This paper identifies a cancer-associated polymorphism in CHMP4C that disrupts the abscission checkpoint, leading to genome instability and increased cancer risk.

Human PGBD5 DNA transposase promotes site-specific oncogenic mutations in rhabdoid tumors

This study identifies PGBD5 as an oncogenic DNA transposase in rhabdoid tumors, causing site-specific genomic rearrangements through PSS sequences and end-joining repair.