Universität zu Köln

Rosenquist, Richard ORCID: 0000-0002-0211-8788, Cuppen, Edwin, Buettner, Reinhard, Caldas, Carlos ORCID: 0000-0003-3547-1489, Dreau, Helene, Elemento, Olivier, Frederix, Geert, Grimmond, Sean ORCID: 0000-0002-8102-7998, Haferlach, Torsten, Jobanputra, Vaidehi, Meggendorfer, Manja, Mullighan, Charles G., Wordsworth, Sarah and Schuh, Anna (2022). Clinical utility of whole-genome sequencing in precision oncology. Semin. Cancer Biol., 84. S. 32 - 40. LONDON: ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD. ISSN 1096-3650

Full text not available from this repository.

Abstract

Precision diagnostics is one of the two pillars of precision medicine. Sequencing efforts in the past decade have firmly established cancer as a primarily genetically driven disease. This concept is supported by therapeutic successes aimed at particular pathways that are perturbed by specific driver mutations in protein-coding domains and reflected in three recent FDA tissue agnostic cancer drug approvals. In addition, there is increasing evidence from studies that interrogate the entire genome by whole-genome sequencing that acquired global and complex genomic aberrations including those in non-coding regions of the genome might also reflect clinical outcome. After addressing technical, logistical, financial and ethical challenges, national initiatives now aim to introduce clinical whole-genome sequencing into real-world diagnostics as a rational and potentially cost-effective tool for response prediction in cancer and to identify patients who would benefit most from 'expensive' targeted ther-apies and recruitment into clinical trials. However, so far, this has not been accompanied by a systematic and prospective evaluation of the clinical utility of whole-genome sequencing within clinical trials of uniformly treated patients of defined clinical outcome. This approach would also greatly facilitate novel predictive biomarker discovery and validation, ultimately reducing size and duration of clinical trials and cost of drug development.This manuscript is the third in a series of three to review and critically appraise the potential and challenges of clinical whole-genome sequencing in solid tumors and hematological malignancies.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Rosenquist, Richard UNSPECIFIED orcid.org/0000-0002-0211-8788 UNSPECIFIED Cuppen, Edwin UNSPECIFIED UNSPECIFIED UNSPECIFIED Buettner, Reinhard UNSPECIFIED UNSPECIFIED UNSPECIFIED Caldas, Carlos UNSPECIFIED orcid.org/0000-0003-3547-1489 UNSPECIFIED Dreau, Helene UNSPECIFIED UNSPECIFIED UNSPECIFIED Elemento, Olivier UNSPECIFIED UNSPECIFIED UNSPECIFIED Frederix, Geert UNSPECIFIED UNSPECIFIED UNSPECIFIED Grimmond, Sean UNSPECIFIED orcid.org/0000-0002-8102-7998 UNSPECIFIED Haferlach, Torsten UNSPECIFIED UNSPECIFIED UNSPECIFIED Jobanputra, Vaidehi UNSPECIFIED UNSPECIFIED UNSPECIFIED Meggendorfer, Manja UNSPECIFIED UNSPECIFIED UNSPECIFIED Mullighan, Charles G. UNSPECIFIED UNSPECIFIED UNSPECIFIED Wordsworth, Sarah UNSPECIFIED UNSPECIFIED UNSPECIFIED Schuh, Anna UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-694021
DOI:	10.1016/j.semcancer.2021.06.018
Journal or Publication Title:	Semin. Cancer Biol.
Volume:	84
Page Range:	S. 32 - 40
Date:	2022
Publisher:	ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD
Place of Publication:	LONDON
ISSN:	1096-3650
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language BREAST-CANCER; SOMATIC MUTATIONS; CLONAL EVOLUTION; LANDSCAPE; REVEALS; MEDICINE; TRIALS; EXOME; PROGRESSION; SIGNATURES Multiple languages Oncology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/69402