Study protocol: Whole genome sequencing Implementation in standard Diagnostics for Every cancer patient (WIDE)
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Study protocol: Whole genome sequencing Implementation in standard Diagnostics for Every cancer patient (WIDE)
Kris G. Samsom, Linda J. W. Bosch, Luuk J. Schipper, Paul Roepman, Ewart De Bruijn, Louisa R. Hoes, Immy Riethorst, …
Impact of panel design and cut-off on tumour mutational burden assessment in metastatic solid tumour samples
Mankor JM, Paats MS, Groenendijk FH, Roepman P, Dinjens WNM, Dubbink HJ, Sleijfer S, CPCT Consortium, Cuppen E, Lolkema MPJK …
A mutational signature in human colorectal cancer induced by genotoxic pks+ E. coli
Pleguezuelos-Manzano C, Puschhof J, Rosendahl Huber A, van Hoeck A, Wood H, Nomburg JL, Gurjao C, Manders F, Dalmasso G, …
GRIDSS, PURPLE, LINX: Unscrambling the tumor genome via integrated analysis of structural variation and copy number
Cameron DL, Baber J, Shale C, Papenfuss AT, Espejo Valle-Inclan J, Besselink N, Cuppen E, Priestley P BJC British Journal …
A practical framework and online tool for mutational signature analyses show intertissue variation and driver dependencies
Andrea Degasperi, Tauanne Dias Amarante, Jan Czarnecki, Scott Shooter, Xueqing Zou, Dominik Glodzik, Sandro Morganella, Arjun S. Nanda, Cherif Badja, …
A deep learning system accurately classify primary and metastatic cancers using passenger mutation patterns
Jiao W, Atwal G, Polak P, Karlic R, Cuppen E; PCAWG Tumor Subtypes and Clinical Translation Working Group, Danyi A, …
svMIL: predicting the pathogenic effect of TAD boundary-disrupting somatic structural variants through multiple instance learning
Marleen M. Nieboer, Jeroen de Ridder Bioinformatics December 1, 2020 PMID: 33381833
Pervasive Chromosomal Instability and Karyotype Order In Tumour Evolution
Thomas BK Watkins, Emilia L Lim, Marina Petkovic, Sergi Elizalde, Nicolai J Birkbak, Gareth A Wilson, David A Moore, Eva …
Pan-cancer landscape of homologous recombination deficiency.
Nguyen L, van Hoeck A, Cuppen E Nature Communications November 1, 2020 PMID: 33149131
The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study
Marco Punta, Victoria A. Jennings, Alan A. Melcher, Stefano Lise Frontiers in Immunology October 8, 2020 PMID: 33133066
A compendium of mutational cancer driver genes
Francisco Martínez-Jiménez, Ferran Muiños, Inés Sentís, Jordi Deu-Pons, Iker Reyes-Salazar, Claudia Arnedo-Pac, Loris Mularoni, Oriol Pich, Jose Bonet,Hanna Kranas, Abel …
DNA mismatch repair promotes APOBEC3-mediated diffuse hypermutation in human cancers.
Ponte, D and Supek, F Nature Genetics August 1, 2020 PMID: 32747826
Een complete DNA-test biedt bij patiënten met PTO de extra mogelijkheid om erachter te komen waar de kanker is begonnen. Hierdoor wordt vaak de primaire tumor toch gevonden. Daarnaast geeft de test vaak aanknopingspunten voor een gerichte behandeling.