A fundamental goal in cancer research is to understand the mechanisms of cell transformation.
This is key to developing more efficient cancer detection methods and therapeutic …

We report an autosomal recessive, multi-organ tumor predisposition syndrome, caused by bi-allelic
loss-of-function germline variants in the base excision repair (BER) gene MBD4. We …

Motivation Identification of the genomic alterations driving tumorigenesis is one of the main
goals in oncogenomics research. Given the evolutionary principles of cancer development, …

Cancers arise through the acquisition of oncogenic mutations and grow by clonal expansion
1 , 2 . Here we reveal that most mutagenic DNA lesions are not resolved into a mutated …

Neoantigens are now recognized drivers of the antitumor immune response. Recurrent
neoantigens, shared among groups of patients, have thus become increasingly coveted …

Lymphocyte activation is associated with rapid increase of both the glycolytic activator
fructose 2,6-bisphosphate (Fru-2,6-P 2 ) and the enzyme responsible for its synthesis, 6-…

The sparsity of mutations observed across tumours hinders our ability to study mutation rate
variability at nucleotide resolution. To circumvent this, here we investigated the propensity of …

To characterise the somatic alterations in colorectal cancer (CRC), we conducted whole-genome
sequencing analysis of 2,023 tumours. We provide the most detailed high-resolution …

An algorithm that uses evolutionary data to predict disease variants makes a case for
embracing computational evidence for clinical interpretation of genetic variation.

The glycolytic modulator TP53-Inducible Glycolysis and Apoptosis Regulator (TIGAR) is
overexpressed in several types of cancer and has a role in metabolic rewiring during tumor …