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  • Kroeze, Leonie I.Radboud Univ Nijmegen Med Ctr, Radboud Inst Mol Life Sci, Dept Pathol, Nijmegen, Netherlands. (author)

Evaluation of a Hybrid Capture-Based Pan-Cancer Panel for Analysis of Treatment Stratifying Oncogenic Aberrations and Processes

  • Article/chapterEnglish2020

Publisher, publication year, extent ...

  • Elsevier,2020
  • electronicrdacarrier

Numbers

  • LIBRIS-ID:oai:DiVA.org:uu-414957
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-414957URI
  • https://doi.org/10.1016/j.jmoldx.2020.02.009DOI

Supplementary language notes

  • Language:English
  • Summary in:English

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  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • Stratification of patients for targeted and immune-based therapies requires extensive genomic profiling that enables sensitive detection of clinically relevant variants and interrogation of biomarkers, such as tumor mutational burden (TMB) and microsatellite instability (MSI). Detection of single and multiple nucleotide variants, copy number variants, MSI, and TMB was evaluated using a commercially available next-generation sequencing panel containing 523 cancer-related genes (1.94 megabases). Analysis of formalin-fixed, paraffin-embedded tissue sections and cytologic material from 45 tumor samples showed that all previously known MSI-positive samples (n = 7), amplifications (n = 9), and pathogenic variants (n = 59) could be detected. TMB and MSI scores showed high intralaboratory and interlaboratory reproducibility (eight samples tested in 11 laboratories). For reliable TMB analysis, 20 ng DNA was shown to be sufficient, even for relatively poor-quality samples. A minimum of 20% neoplastic cells was required to minimize variations in TMB values induced by chromosomal instability or tumor heterogeneity. Subsequent analysis of 58 consecutive lung cancer samples in a diagnostic setting was successful and revealed sufficient somatic mutations to generate mutational signatures in 14 cases. In conclusion, the 523-gene assay can be applied for evaluation of multiple DNA-based biomarkers relevant for treatment selection.

Subject headings and genre

Added entries (persons, corporate bodies, meetings, titles ...)

  • de Voer, Richarda M.Radboud Univ Nijmegen Med Ctr, Radboud Inst Mol Life Sci, Dept Human Genet, Nijmegen, Netherlands. (author)
  • Kamping, Eveline J.Radboud Univ Nijmegen Med Ctr, Radboud Inst Mol Life Sci, Dept Human Genet, Nijmegen, Netherlands. (author)
  • von Rhein, DanielRadboud Univ Nijmegen Med Ctr, Radboud Inst Mol Life Sci, Dept Human Genet, Nijmegen, Netherlands. (author)
  • Jansen, Erik A. M.Radboud Univ Nijmegen Med Ctr, Radboud Inst Mol Life Sci, Dept Human Genet, Nijmegen, Netherlands. (author)
  • Hermsen, Mandy J. W.Radboud Univ Nijmegen Med Ctr, Radboud Inst Mol Life Sci, Dept Pathol, Nijmegen, Netherlands. (author)
  • Barberis, Massimo C. P.European Inst Oncol, Div Pathol & Lab Med, Milan, Italy. (author)
  • Botling, JohanUppsala universitet,Klinisk och experimentell patologi,Science for Life Laboratory, SciLifeLab,Johan Botling(Swepub:uu)johanbot (author)
  • Garrido-Martin, Eva M.Univ Hosp 12 Octubre, Inst Invest I 12, Spanish Natl Ctr Canc Res, Madrid, Spain.;Ctr Invest Biomed Red Canc, Madrid, Spain. (author)
  • Haller, FlorianUniv Hosp Erlangen, Inst Pathol, Erlangen, Germany. (author)
  • Lacroix, LudovicInst Gustave Roussy, Dept Med Biol & Pathol, Villejuif, France. (author)
  • Maes, BrigitteJessa Hosp, Lab Mol Diagnost, Dept Biol Clin, Hasselt, Belgium. (author)
  • Merkelbach-Bruse, SabineUniv Hosp Cologne, Inst Pathol, Cologne, Germany. (author)
  • Pestinger, ValerieUniv Birmingham, Inst Canc & Genom Sci, Birmingham, W Midlands, England. (author)
  • Pfarr, NicoleTech Univ Munich, Sch Med, Inst Pathol, Munich, Germany. (author)
  • Stenzinger, AlbrechtHeidelberg Univ Hosp, Inst Pathol, Heidelberg, Germany. (author)
  • van den Heuvel, Michel M.Radboud Univ Nijmegen Med Ctr, Dept Pulmonol, Nijmegen, Netherlands. (author)
  • Grunberg, KatrienRadboud Univ Nijmegen Med Ctr, Radboud Inst Mol Life Sci, Dept Pathol, Nijmegen, Netherlands. (author)
  • Ligtenberg, Marjolijn J. L.Radboud Univ Nijmegen Med Ctr, Radboud Inst Mol Life Sci, Dept Pathol, Nijmegen, Netherlands.;Radboud Univ Nijmegen Med Ctr, Radboud Inst Mol Life Sci, Dept Human Genet, Nijmegen, Netherlands. (author)
  • Radboud Univ Nijmegen Med Ctr, Radboud Inst Mol Life Sci, Dept Pathol, Nijmegen, Netherlands.Radboud Univ Nijmegen Med Ctr, Radboud Inst Mol Life Sci, Dept Human Genet, Nijmegen, Netherlands. (creator_code:org_t)

Related titles

  • In:Journal of Molecular Diagnostics: Elsevier22:6, s. 757-7691525-15781943-7811

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