The Cancer Genomics Programme (CGP) integrates multidisciplinary expertise to advance the understanding of cancer through genomics. The Programme comprises two Senior Research Groups, three Junior Groups and five specialised Units, spanning experimental, computational and clinical cancer genomics.
CGP research focuses on the genomic characterisation of human cancer, including the identification of cancer-predisposition genes and the exposome, the application of genome-editing technologies for tumour modelling, and large-scale computational genomics using big data and artificial intelligence. The Programme also contributes innovative genetic and cytogenetic diagnostics to the National Health System, particularly through its Familial Cancer activities.
The Programme’s Research Groups integrate complementary expertise across hereditary cancer genetics, molecular epidemiology, and advanced computational oncology. The Hereditary Endocrine Cancer Group investigates high-penetrance susceptibility genes involved in hereditary endocrine tumours, uncovers diagnostic and prognostic markers to identify altered pathways that may be targeted with therapeutics, and identifies genetic markers associated with variability in drug response and toxicity. The research carried out by the Genetic and Molecular Epidemiology Group ranges from identifying aetiological agents and mechanisms to translating the findings into the clinical and public health domains, focusing on bladder, pancreatic, and lung cancers. The Junior Groups focus on data-driven and computational approaches to cancer biology. The Computational Cancer Genomics Group explores how identical mutations generate distinct molecular and phenotypic outcomes across different cellular contexts by modelling gene–gene and protein–protein interactions across diverse mutational landscapes. The Computational Oncology Group focuses on chromosomal instability (CIN) as a driver of aggressive cancers. Using experimental models, patient samples, and single-cell sequencing, the group develops therapeutic strategies, predictive biomarkers, and evolutionary models to improve treatment response and enable early cancer interception. The Digital Genomics Group studies somatic mutational signatures to decipher the molecular processes underlying tumour development, applying artificial intelligence to translate these patterns into novel biomarkers for cancer prognosis and treatment selection.
The Programme is supported by five specialised Units that provide cutting-edge technologies and conduct independent research. The Molecular Cytogenetics Unit applies classical and molecular cytogenetics and genome-editing technologies, and develops human stem-cell models carrying defined chromosomal alterations to investigate their role in cancer progression and therapeutic vulnerability. The Human Genotyping Unit (CEGEN) supports large-scale genotyping studies and investigates genetic determinants of breast cancer risk, treatment response and drug toxicity, with the aim of improving risk stratification, personalised screening and treatment safety. The Familial Cancer Unit focuses on the genetic diagnosis of hereditary and familial cancers, which together account for up to 30% of all tumours. By addressing cases with known and unknown genetic causes, the Unit plays a key role in translating genomic knowledge into clinical practice within the National Health System. The Bioinformatics Unit investigates cancer complexity through integrative multi-omics and multi-modal analyses, combining genomic, transcriptomic, spatial, imaging, and clinical data. Finally, the Molecular Diagnostics Unit develops and implements molecular assays for cancer diagnosis, disease monitoring, and therapy response.