Clinical Genetics
Cancer Genomics
Somatic mutation landscapes, tumour evolution and germline predisposition.
Scientific context
Understanding the field
Studies combine bulk and single-cell sequencing to characterise driver events, clonal architecture and mechanisms of therapeutic resistance, alongside hereditary cancer syndrome assessment.
Cancer genomes accumulate somatic alterations as tumours develop and respond to selective pressures. Analysis distinguishes acquired tumour changes from inherited predisposition and studies heterogeneity between and within lesions.
Central questions
- Which alterations drive growth, progression or resistance?
- How does clonal composition change over time?
Methodological framework
- Tumour–normal sequencing and copy-number profiling
- Single-cell and spatial analysis
- Clonal-evolution and mutational-signature modelling
Relevance
Scientific and clinical value
Genomic evidence can refine tumour classification, identify testable biomarkers and clarify inherited-risk questions when interpreted within validated clinical frameworks.
Limits and responsibility
Tumour purity, sampling time and intratumour heterogeneity affect results. A molecular alteration may be biologically relevant without being clinically actionable, and treatment decisions require specialist assessment.
Authoritative resources
Public reference resources
These independent resources are provided for scholarly orientation; inclusion does not imply an institutional partnership. This page does not replace medical advice or diagnosis.