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

Kroeze, Leonie I. (author)
Radboud Univ Nijmegen Med Ctr, Radboud Inst Mol Life Sci, Dept Pathol, Nijmegen, Netherlands.
de Voer, Richarda M. (author)
Radboud Univ Nijmegen Med Ctr, Radboud Inst Mol Life Sci, Dept Human Genet, Nijmegen, Netherlands.
Kamping, Eveline J. (author)
Radboud Univ Nijmegen Med Ctr, Radboud Inst Mol Life Sci, Dept Human Genet, Nijmegen, Netherlands.
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von Rhein, Daniel (author)
Radboud Univ Nijmegen Med Ctr, Radboud Inst Mol Life Sci, Dept Human Genet, Nijmegen, Netherlands.
Jansen, Erik A. M. (author)
Radboud Univ Nijmegen Med Ctr, Radboud Inst Mol Life Sci, Dept Human Genet, Nijmegen, Netherlands.
Hermsen, Mandy J. W. (author)
Radboud Univ Nijmegen Med Ctr, Radboud Inst Mol Life Sci, Dept Pathol, Nijmegen, Netherlands.
Barberis, Massimo C. P. (author)
European Inst Oncol, Div Pathol & Lab Med, Milan, Italy.
Botling, Johan (author)
Uppsala universitet,Klinisk och experimentell patologi,Science for Life Laboratory, SciLifeLab,Johan Botling
Garrido-Martin, Eva M. (author)
Univ Hosp 12 Octubre, Inst Invest I 12, Spanish Natl Ctr Canc Res, Madrid, Spain.;Ctr Invest Biomed Red Canc, Madrid, Spain.
Haller, Florian (author)
Univ Hosp Erlangen, Inst Pathol, Erlangen, Germany.
Lacroix, Ludovic (author)
Inst Gustave Roussy, Dept Med Biol & Pathol, Villejuif, France.
Maes, Brigitte (author)
Jessa Hosp, Lab Mol Diagnost, Dept Biol Clin, Hasselt, Belgium.
Merkelbach-Bruse, Sabine (author)
Univ Hosp Cologne, Inst Pathol, Cologne, Germany.
Pestinger, Valerie (author)
Univ Birmingham, Inst Canc & Genom Sci, Birmingham, W Midlands, England.
Pfarr, Nicole (author)
Tech Univ Munich, Sch Med, Inst Pathol, Munich, Germany.
Stenzinger, Albrecht (author)
Heidelberg Univ Hosp, Inst Pathol, Heidelberg, Germany.
van den Heuvel, Michel M. (author)
Radboud Univ Nijmegen Med Ctr, Dept Pulmonol, Nijmegen, Netherlands.
Grunberg, Katrien (author)
Radboud Univ Nijmegen Med Ctr, Radboud Inst Mol Life Sci, Dept Pathol, Nijmegen, Netherlands.
Ligtenberg, Marjolijn J. L. (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.
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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)
Elsevier, 2020
2020
English.
In: Journal of Molecular Diagnostics. - : Elsevier. - 1525-1578 .- 1943-7811. ; 22:6, s. 757-769
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  • Journal article (peer-reviewed)
Abstract Subject headings
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  • 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

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)

Keyword

Patologi
Pathology

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