ArticleCold Spring Harbor molecular case studies2018
Clinically actionable mutation profiles in patients with cancer identified by whole-genome sequencing.
Article in Cold Spring Harbor molecular case studies, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed.
- Genomic and transcriptomic correlates of Richter transformation in chronic lymphocytic leukemia.Blood · 2021Trial
- Large-Scale Machine Learning Analysis Reveals DNA Methylation and Gene Expression Response Signatures for Gemcitabine-Treated Pancreatic Cancer.Health data science · 2024Article
- Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.Genome medicine · 2023Article
- Protocol for the Tessa Jowell BRAIN MATRIX Platform Study.BMJ open · 2022Article
- Short and long-read genome sequencing methodologies for somatic variant detection; genomic analysis of a patient with diffuse large B-cell lymphoma.Scientific reports · 2021Article
- Branching clonal evolution patterns predominate mutational landscape in multiple myeloma.American journal of cancer research · 2021Article
- A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection.Journal of translational medicine · 2020Article
- Morphologic and Genomic Heterogeneity in the Evolution and Progression of Breast Cancer.Cancers · 2020Review
- Tumor Profiling at the Service of Cancer Therapy.Frontiers in oncology · 2020Review
- A Novel Six-Gene Signature for Prognosis Prediction in Ovarian Cancer.Frontiers in genetics · 2020Article
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25 authors.
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Abstract
Next-generation sequencing (NGS) efforts have established catalogs of mutations relevant to cancer development. However, the clinical utility of this information remains largely unexplored. Here, we present the results of the first eight patients recruited into a clinical whole-genome sequencing (WGS) program in the United Kingdom. We performed PCR-free WGS of fresh frozen tumors and germline DNA at 75× and 30×, respectively, using the HiSeq2500 HTv4. Subtracted tumor VCFs and paired germlines were subjected to comprehensive analysis of coding and noncoding regions, integration of germline with somatically acquired variants, and global mutation signatures and pathway analyses. Results were classified into tiers and presented to a multidisciplinary tumor board. WGS results helped to clarify an uncertain histopathological diagnosis in one case, led to informed or supported prognosis in two cases, leading to de-escalation of therapy in one, and indicated potential treatments in all eight. Overall 26 different tier 1 potentially clinically actionable findings were identified using WGS compared with six SNVs/indels using routine targeted NGS. These initial results demonstrate the potential of WGS to inform future diagnosis, prognosis, and treatment choice in cancer and justify the systematic evaluation of the clinical utility of WGS in larger cohorts of patients with cancer.
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