Cited by 66Cancer Genomics and DiagnosticsBRCA gene mutations in cancerGenomics and Rare Diseases

Genome Sequencing during a Patient’s Journey through Cancer

Nangalia, Jyoti, Campbell, Peter J.·2019·New England Journal of Medicine

Abstract

Interview with Dr. Peter J. Campbell on genome sequencing in cancer. (12:43)Download Breakthroughs in gene-sequencing methods and bioinformatics have ushered in a new era in cancer diagnosis and management. Powerful analytic tools are beginning to improve cancer nosology and facilitate the discovery of genetic defects in tumor cells that can be exploited for treatment and the monitoring of disease regression and progression. This article is accompanied by an explanatory video, an illustrated glossary, and an audio interview with the author.

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Crossref · 10.1056/nejmra1910138

Cites

134 of 134 references verified0 citation errors · 0 not checkable

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  • The unique advantage of using WGS is that both genetic testing and mutational scar based HRD detection with CHORD can be performed simultaneously with the same assay.

    “The unique advantage of using WGS, although not routine in clinical diagnostics yet, but likely in the near future36, is that both genetic testing and mutational scar based HRD detection with CHORD can be performed simultaneously with the same assay.”

    From Pan-cancer landscape of homologous recombination deficiency. (2020) · cites this paper as [36]

  • TOAD achieved top-1/top-3 accuracies of approximately 0.83/0.96 on an internal test set and 0.80/0.93 on an external test set; in a CUP cohort (n=317), its top-three predictions matched pathologists' differentials in 82% of cases.

    “Trained on 17,486 slides spanning 18 primary sites, it achieved top-1/top-3 accuracies of approximately 0.83/0.96 on an internal test set and 0.80/0.93 on an external test set; in a curated cancer of unknown primary (CUP) cohort (n = 317), its top-three predictions matched pathologists’ differentials in 82% of cases.”
  • The TOAD model estimates tissue of origin from routine H&E whole-slide images.

    “The TOAD (Tumour Origin Assessment via Deep learning) model estimates tissue of origin from routine H&E WSIs [82].”

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Authors
Nangalia, J., & Campbell, P. J.
Affiliations
Wellcome/MRC Cambridge Stem Cell Institute (GB)
Venue
New England Journal of Medicine
Published
2019-11-28
Volume
381
Issue
22
Pages
2145-2156
ISSN
  • 0028-4793 (ISSN-L)
  • 1533-4406
OpenAlex
W2990010818
Cited by
66
References
134
Citations by year
2026: 4 · 2025: 9 · 2024: 2 · 2023: 3 · 2022: 15 · 2021: 18 · 2020: 15
FWCI
1.15
Type
journal article
Language
en
Open access
closed
Locations
  • New England Journal of Medicine (publishedVersion)
  • PubMed (publishedVersion)
Funders
  • Wellcome Trust (103858/Z/14/Z)
  • Cancer Research UK (23917)
  • Medical Research Council (MC_PC_12009)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords
cancer genome sequencing, cancer genomics, cancer diagnosis, cancer management, somatic mutations, disease progression monitoring, treatment response monitoring, bioinformatics
MeSH terms
Whole Genome Sequencing, Humans, Interviews as Topic, Mutation, Neoplasms, Genome, Germ-Line Mutation, Risk Assessment, Precision Medicine

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