Sökning: ((WFRF:(Ligtenberg Marjolijn J))) > (2020) > Evaluation of a Hyb...
Fältnamn | Indikatorer | Metadata |
---|---|---|
000 | 05799naa a2200577 4500 | |
001 | oai:DiVA.org:uu-414957 | |
003 | SwePub | |
008 | 200630s2020 | |||||||||||000 ||eng| | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-4149572 URI |
024 | 7 | a https://doi.org/10.1016/j.jmoldx.2020.02.0092 DOI |
040 | a (SwePub)uu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Kroeze, Leonie I.u Radboud Univ Nijmegen Med Ctr, Radboud Inst Mol Life Sci, Dept Pathol, Nijmegen, Netherlands.4 aut |
245 | 1 0 | a Evaluation of a Hybrid Capture-Based Pan-Cancer Panel for Analysis of Treatment Stratifying Oncogenic Aberrations and Processes |
264 | 1 | b 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 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Cancer och onkologi0 (SwePub)302032 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cancer and Oncology0 (SwePub)302032 hsv//eng |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
653 | a Patologi | |
653 | a Pathology | |
700 | 1 | a de Voer, Richarda M.u Radboud Univ Nijmegen Med Ctr, Radboud Inst Mol Life Sci, Dept Human Genet, Nijmegen, Netherlands.4 aut |
700 | 1 | a Kamping, Eveline J.u Radboud Univ Nijmegen Med Ctr, Radboud Inst Mol Life Sci, Dept Human Genet, Nijmegen, Netherlands.4 aut |
700 | 1 | a von Rhein, Danielu Radboud Univ Nijmegen Med Ctr, Radboud Inst Mol Life Sci, Dept Human Genet, Nijmegen, Netherlands.4 aut |
700 | 1 | a Jansen, Erik A. M.u Radboud Univ Nijmegen Med Ctr, Radboud Inst Mol Life Sci, Dept Human Genet, Nijmegen, Netherlands.4 aut |
700 | 1 | a Hermsen, Mandy J. W.u Radboud Univ Nijmegen Med Ctr, Radboud Inst Mol Life Sci, Dept Pathol, Nijmegen, Netherlands.4 aut |
700 | 1 | a Barberis, Massimo C. P.u European Inst Oncol, Div Pathol & Lab Med, Milan, Italy.4 aut |
700 | 1 | a Botling, Johanu Uppsala universitet,Klinisk och experimentell patologi,Science for Life Laboratory, SciLifeLab,Johan Botling4 aut0 (Swepub:uu)johanbot |
700 | 1 | a 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 |
700 | 1 | a Haller, Florianu Univ Hosp Erlangen, Inst Pathol, Erlangen, Germany.4 aut |
700 | 1 | a Lacroix, Ludovicu Inst Gustave Roussy, Dept Med Biol & Pathol, Villejuif, France.4 aut |
700 | 1 | a Maes, Brigitteu Jessa Hosp, Lab Mol Diagnost, Dept Biol Clin, Hasselt, Belgium.4 aut |
700 | 1 | a Merkelbach-Bruse, Sabineu Univ Hosp Cologne, Inst Pathol, Cologne, Germany.4 aut |
700 | 1 | a Pestinger, Valerieu Univ Birmingham, Inst Canc & Genom Sci, Birmingham, W Midlands, England.4 aut |
700 | 1 | a Pfarr, Nicoleu Tech Univ Munich, Sch Med, Inst Pathol, Munich, Germany.4 aut |
700 | 1 | a Stenzinger, Albrechtu Heidelberg Univ Hosp, Inst Pathol, Heidelberg, Germany.4 aut |
700 | 1 | a van den Heuvel, Michel M.u Radboud Univ Nijmegen Med Ctr, Dept Pulmonol, Nijmegen, Netherlands.4 aut |
700 | 1 | a Grunberg, Katrienu Radboud Univ Nijmegen Med Ctr, Radboud Inst Mol Life Sci, Dept Pathol, Nijmegen, Netherlands.4 aut |
700 | 1 | a 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 |
710 | 2 | a 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 |
773 | 0 | t Journal of Molecular Diagnosticsd : Elsevierg 22:6, s. 757-769q 22:6<757-769x 1525-1578x 1943-7811 |
856 | 4 | u https://doi.org/10.1016/j.jmoldx.2020.02.009y Fulltext |
856 | 4 | u https://uu.diva-portal.org/smash/get/diva2:1449642/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print |
856 | 4 | u http://www.jmdjournal.org/article/S1525157820300544/pdf |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-414957 |
856 | 4 8 | u https://doi.org/10.1016/j.jmoldx.2020.02.009 |
Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.
Kopiera och spara länken för att återkomma till aktuell vy