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Sökning: ((WFRF:(Ligtenberg Marjolijn J))) > (2020) > Evaluation of a Hyb...

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FältnamnIndikatorerMetadata
00005799naa a2200577 4500
001oai:DiVA.org:uu-414957
003SwePub
008200630s2020 | |||||||||||000 ||eng|
024a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-4149572 URI
024a https://doi.org/10.1016/j.jmoldx.2020.02.0092 DOI
040 a (SwePub)uu
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
100a Kroeze, Leonie I.u Radboud Univ Nijmegen Med Ctr, Radboud Inst Mol Life Sci, Dept Pathol, Nijmegen, Netherlands.4 aut
2451 0a Evaluation of a Hybrid Capture-Based Pan-Cancer Panel for Analysis of Treatment Stratifying Oncogenic Aberrations and Processes
264 1b Elsevier,c 2020
338 a electronic2 rdacarrier
520 a 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.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Cancer och onkologi0 (SwePub)302032 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cancer and Oncology0 (SwePub)302032 hsv//eng
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
653 a Patologi
653 a Pathology
700a de Voer, Richarda M.u Radboud Univ Nijmegen Med Ctr, Radboud Inst Mol Life Sci, Dept Human Genet, Nijmegen, Netherlands.4 aut
700a Kamping, Eveline J.u Radboud Univ Nijmegen Med Ctr, Radboud Inst Mol Life Sci, Dept Human Genet, Nijmegen, Netherlands.4 aut
700a von Rhein, Danielu Radboud Univ Nijmegen Med Ctr, Radboud Inst Mol Life Sci, Dept Human Genet, Nijmegen, Netherlands.4 aut
700a Jansen, Erik A. M.u Radboud Univ Nijmegen Med Ctr, Radboud Inst Mol Life Sci, Dept Human Genet, Nijmegen, Netherlands.4 aut
700a Hermsen, Mandy J. W.u Radboud Univ Nijmegen Med Ctr, Radboud Inst Mol Life Sci, Dept Pathol, Nijmegen, Netherlands.4 aut
700a Barberis, Massimo C. P.u European Inst Oncol, Div Pathol & Lab Med, Milan, Italy.4 aut
700a Botling, Johanu Uppsala universitet,Klinisk och experimentell patologi,Science for Life Laboratory, SciLifeLab,Johan Botling4 aut0 (Swepub:uu)johanbot
700a Garrido-Martin, Eva M.u Univ Hosp 12 Octubre, Inst Invest I 12, Spanish Natl Ctr Canc Res, Madrid, Spain.;Ctr Invest Biomed Red Canc, Madrid, Spain.4 aut
700a Haller, Florianu Univ Hosp Erlangen, Inst Pathol, Erlangen, Germany.4 aut
700a Lacroix, Ludovicu Inst Gustave Roussy, Dept Med Biol & Pathol, Villejuif, France.4 aut
700a Maes, Brigitteu Jessa Hosp, Lab Mol Diagnost, Dept Biol Clin, Hasselt, Belgium.4 aut
700a Merkelbach-Bruse, Sabineu Univ Hosp Cologne, Inst Pathol, Cologne, Germany.4 aut
700a Pestinger, Valerieu Univ Birmingham, Inst Canc & Genom Sci, Birmingham, W Midlands, England.4 aut
700a Pfarr, Nicoleu Tech Univ Munich, Sch Med, Inst Pathol, Munich, Germany.4 aut
700a Stenzinger, Albrechtu Heidelberg Univ Hosp, Inst Pathol, Heidelberg, Germany.4 aut
700a van den Heuvel, Michel M.u Radboud Univ Nijmegen Med Ctr, Dept Pulmonol, Nijmegen, Netherlands.4 aut
700a Grunberg, Katrienu Radboud Univ Nijmegen Med Ctr, Radboud Inst Mol Life Sci, Dept Pathol, Nijmegen, Netherlands.4 aut
700a Ligtenberg, Marjolijn J. L.u 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.4 aut
710a Radboud Univ Nijmegen Med Ctr, Radboud Inst Mol Life Sci, Dept Pathol, Nijmegen, Netherlands.b Radboud Univ Nijmegen Med Ctr, Radboud Inst Mol Life Sci, Dept Human Genet, Nijmegen, Netherlands.4 org
773t Journal of Molecular Diagnosticsd : Elsevierg 22:6, s. 757-769q 22:6<757-769x 1525-1578x 1943-7811
856u https://doi.org/10.1016/j.jmoldx.2020.02.009y Fulltext
856u https://uu.diva-portal.org/smash/get/diva2:1449642/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
856u http://www.jmdjournal.org/article/S1525157820300544/pdf
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-414957
8564 8u https://doi.org/10.1016/j.jmoldx.2020.02.009

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