| Literature DB >> 34331337 |
Peter Horak1,2,3, Jonas Leichsenring4,5, Hannah Goldschmid5, Simon Kreutzfeldt1,2, Daniel Kazdal5,6, Veronica Teleanu1,2,7, Volker Endris5, Laura Gieldon8, Michael Allgäuer5, Anna-Lena Volckmar5, Nicola Dikow8, Marcus Renner1,2, Martina Kirchner5, Roland Penzel5, Carolin Ploeger3,5, Regine Brandt5, Huriye Seker-Cin5, Jan Budczies2,5,6, Christoph E Heilig1,2, Olaf Neumann5, Christian P Schaaf8, Peter Schirmacher2,3,5, Stefan Fröhling1,2,3, Albrecht Stenzinger2,3,5,6.
Abstract
Modern concepts in precision cancer medicine are based on increasingly complex genomic analyses and require standardized criteria for the functional evaluation and reporting of detected genomic alterations in order to assess their clinical relevance. In this article, we propose and address the necessary steps in systematic variant evaluation consisting of bioinformatic analysis, functional annotation and clinical interpretation, focusing on the latter two aspects. We discuss the role and clinical application of current variant classification systems and point out their scope and limitations. Finally, we highlight the significance of the molecular tumor board as a platform for clinical decision-making based on genomic analyses.Entities:
Keywords: molecular biomarker; molecular tumor board; precision oncology; variant classification
Mesh:
Year: 2021 PMID: 34331337 DOI: 10.1002/gcc.22987
Source DB: PubMed Journal: Genes Chromosomes Cancer ISSN: 1045-2257 Impact factor: 5.006