Purpose Recurrent glioblastoma multiforme (GBM) is incurable with current therapies. Biallelic
mismatch repair deficiency (bMMRD) is a highly penetrant childhood cancer syndrome …

We present an extensive assessment of mutation burden through sequencing analysis of >81,000
tumors from pediatric and adult patients, including tumors with hypermutation caused …

Prostate tumours are highly variable in their response to therapies, but clinically available
prognostic factors can explain only a fraction of this heterogeneity. Here we analysed 200 …

DNA replication−associated mutations are repaired by two components: polymerase
proofreading and mismatch repair. The mutation consequences of disruption to both repair …

Herein we provide a detailed molecular analysis of the spatial heterogeneity of clinically
localized, multifocal prostate cancer to delineate new oncogenes or tumor suppressors. We …

Polymorphous low-grade adenocarcinoma (PLGA) is the second most frequent type of malignant
tumor of the minor salivary glands. We identified PRKD1 hotspot mutations encoding p.…

INTRODUCTION Gene fusions are often disease-defining events in cancer. The mutational
processes that give rise to fusions, their timing relative to initial diagnosis, and whether they …

miRNAs are a class of regulatory molecules involved in a wide range of cellular functions,
including growth, development and apoptosis. Given their widespread roles in biological …

Background We introduce BPG, a framework for generating publication-quality, highly-customizable
plots in the R statistical environment. Results This open-source package includes …

Li-Fraumeni syndrome (LFS) is a hereditary cancer predisposition syndrome associated
with germline TP53 pathogenic variants. Here, we perform whole-genome sequence (WGS) …