Assigning evidence to actionability: An introduction to variant interpretation in precision cancer medicine.
molecular biomarker
molecular tumor board
precision oncology
variant classification
Journal
Genes, chromosomes & cancer
ISSN: 1098-2264
Titre abrégé: Genes Chromosomes Cancer
Pays: United States
ID NLM: 9007329
Informations de publication
Date de publication:
06 2022
06 2022
Historique:
received:
22
05
2021
accepted:
25
07
2021
pubmed:
1
8
2021
medline:
20
5
2022
entrez:
31
7
2021
Statut:
ppublish
Résumé
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.
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
303-313Informations de copyright
© 2021 The Authors. Genes, Chromosomes and Cancer published by Wiley Periodicals LLC.
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