Cancer Genomics and Diagnostics
Cancer genomics examines the DNA-level changes that drive a normal cell to become malignant and to keep evolving under treatment pressure, reading the somatic mutations, copy-number shifts, and structural rearrangements that accumulate across a tumor's lifetime. Because no two patients' tumors carry identical alterations — and because cells within a single tumor can diverge substantially from one another, a phenomenon called intratumor heterogeneity — matching a therapy to a genomic target remains a moving target rather than a solved problem. A growing body of work focuses on liquid biopsies, which detect cell-free tumor DNA shed into the bloodstream, offering a less invasive and more temporally flexible window into tumor evolution than surgical sampling alone. Central open questions include how to distinguish the mutational signatures that causally drive progression from the vast background of passenger mutations, and how clonal dynamics shift when tumors are placed under selective pressure from targeted drugs or immune surveillance.
- Works
- 99,076
- Total citations
- 1,764,511
- Keywords
- Cancer GenomicsMutational SignaturesIntratumor HeterogeneityLiquid BiopsiesSomatic MutationsTumor Evolution
Top papers in Cancer Genomics and Diagnostics
Ordered by total citation count.
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology↗ 32,131OA
- Cancer statistics, 2020↗ 21,392OA
- The cBio Cancer Genomics Portal: An Open Platform for Exploring Multidimensional Cancer Genomics Data↗ 18,414OA
- AJCC Cancer Staging Manual↗ 17,417
- Cancer Statistics, 2021↗ 17,371OA
- Integrative genomics viewer↗ 16,522
- Integrative Analysis of Complex Cancer Genomics and Clinical Profiles Using the cBioPortal↗ 15,912OA
- Integrating single-cell transcriptomic data across different conditions, technologies, and species↗ 14,654OA
- Comprehensive molecular portraits of human breast tumours↗ 12,388OA
- A genetic model for colorectal tumorigenesis↗ 12,101
- Toxicity and response criteria of the Eastern Cooperative Oncology Group↗ 11,612
- Inferring tumour purity and stromal and immune cell admixture from expression data↗ 10,708OA
Active researchers
Top authors in this area, ranked by h-index.