Heuckmann, J. M. and Thomas, R. K. (2015). A new generation of cancer genome diagnostics for routine clinical use: overcoming the roadblocks to personalized cancer medicine. Ann. Oncol., 26 (9). S. 1830 - 1838. OXFORD: OXFORD UNIV PRESS. ISSN 1569-8041

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Abstract

The identification of 'druggable' kinase gene alterations has revolutionized cancer treatment in the last decade by providing new and successfully targetable drug targets. Thus, genotyping tumors for matching the right patients with the right drugs have become a clinical routine. Today, advances in sequencing technology and computational genome analyses enable the discovery of a constantly growing number of genome alterations relevant for clinical decision making. As a consequence, several technological approaches have emerged in order to deal with these rapidly increasing demands for clinical cancer genome analyses. Here, we describe challenges on the path to the broad introduction of diagnostic cancer genome analyses and the technologies that can be applied to overcome them. We define three generations of molecular diagnostics that are in clinical use. The latest generation of these approaches involves deep and thus, highly sensitive sequencing of all therapeutically relevant types of genome alterations-mutations, copy number alterations and rearrangements/fusions-in a single assay. Such approaches therefore have substantial advantages (less time and less tissue required) over PCR-based methods that typically have to be combined with fluorescence in situ hybridization for detection of gene amplifications and fusions. Since these new technologies work reliably on routine diagnostic formalin-fixed, paraffin-embedded specimens, they can help expedite the broad introduction of personalized cancer therapy into the clinic by providing comprehensive, sensitive and accurate cancer genome diagnoses in 'real-time'.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Heuckmann, J. M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Thomas, R. K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-394159
DOI: 10.1093/annonc/mdv184
Journal or Publication Title: Ann. Oncol.
Volume: 26
Number: 9
Page Range: S. 1830 - 1838
Date: 2015
Publisher: OXFORD UNIV PRESS
Place of Publication: OXFORD
ISSN: 1569-8041
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
CELL LUNG-CANCER; ACQUIRED-RESISTANCE; IMPROVED SURVIVAL; DRIVER MUTATIONS; MEK INHIBITION; GENE FUSIONS; EGFR; GEFITINIB; ALK; BRAFMultiple languages
OncologyMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/39415

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