Preservation and clonal behavior of extrachromosomal DNA in patient-derived xenograft models of childhood cancers
Genome Med. 2026 May 28. doi: 10.1186/s13073-026-01676-0. Online ahead of print. ABSTRACT BACKGROUND: Extrachromosomal DNA (ecDNA) is a structural variant linked to poor prognosis in pediatric cancers. Patient-derived xenograft (PDX) models are crucial tools for cancer research, as they are believed to recapitulate the molecular features and intratumoral heterogeneity in patient tumors. However, ecDNA demonstrates […]
When loss is gain: truncating mutations in additional sex combs (ASXL) gene family in cancer and neurodevelopment
Trends Genet. 2026 Mar 31:S0168-9525(26)00038-7. doi: 10.1016/j.tig.2026.02.003. Online ahead of print. ABSTRACT The human ASXL gene family consists of ASXL1, ASXL2, and ASXL3, first described as the additional sex combs (Asx) in Drosophila. The encoded proteins scaffold BAP1-mediated histone H2A deubiquitination. ASXL genes are implicated in pre-cancerous, cancerous, and neurodevelopmental conditions. Truncating mutations predominate and […]
Detecting Extrachromosomal DNA from Routine Histopathology
bioRxiv [Preprint]. 2026 Mar 2:2026.02.27.708546. doi: 10.64898/2026.02.27.708546. ABSTRACT Extrachromosomal DNA (ecDNA) is a major driver of oncogene amplification, tumour heterogeneity and poor clinical outcomes [1-3], yet its detection relies on specialised genomic assays that are not integrated into routine diagnostics. Here, we show that ecDNA status can be inferred directly from standard haematoxylin and eosin-stained […]
Aberrant cytoplasmic localization of MLH1 characterizes a cell population that seeds breast cancer recurrence
Nat Commun. 2025 Dec 10. doi: 10.1038/s41467-025-67257-8. Online ahead of print. ABSTRACT Estrogen receptor-positive breast cancer remains a leading cause of cancer-related death in women, with mortality largely driven by late recurrence of treatment-resistant disease. Loss of MLH1 promotes resistance to estrogen-targeting therapies by uncoupling cell cycle progression from estrogen regulation. Here, we show that […]