[Variant interpretation in molecular pathology and oncology : An introduction].
Varianteninterpretation in der molekularen Pathologie und Onkologie : Eine Einführung.
Mutation
Neoplasm staging
Precision medicine
Tumor biomarkers
Whole genome sequencing
Journal
Der Pathologe
ISSN: 1432-1963
Titre abrégé: Pathologe
Pays: Germany
ID NLM: 8006541
Informations de publication
Date de publication:
Jul 2021
Jul 2021
Historique:
accepted:
25
03
2021
pubmed:
4
5
2021
medline:
6
7
2021
entrez:
3
5
2021
Statut:
ppublish
Résumé
Increasingly extensive genomic diagnostics in cancer precision medicine require uniform evaluation criteria for the classification of variants with regard to their functional and therapeutic implications. In this review we present the most important guidelines and classification systems currently used in daily clinical practice, explain their advantages and disadvantages as well as differences and similarities, and present the step-by-step, systematic process that enables successful variant interpretation. Die immer umfangreichere genomische Diagnostik im Rahmen der Präzisionsonkologie erfordert einheitliche Bewertungskriterien für die Klassifizierung von Varianten im Hinblick auf ihre funktionelle Relevanz und therapeutischen Implikationen. In dieser Übersichtsarbeit stellen wir die wichtigsten derzeit gebräuchlichen Leitlinien und Klassifikationssysteme vor, erläutern Vor- und Nachteile sowie Unterschiede und Gemeinsamkeiten und beschreiben den schrittweisen, systematischen Prozess, der eine erfolgreiche Variantenbewertung ermöglicht.
Autres résumés
Type: Publisher
(ger)
Die immer umfangreichere genomische Diagnostik im Rahmen der Präzisionsonkologie erfordert einheitliche Bewertungskriterien für die Klassifizierung von Varianten im Hinblick auf ihre funktionelle Relevanz und therapeutischen Implikationen. In dieser Übersichtsarbeit stellen wir die wichtigsten derzeit gebräuchlichen Leitlinien und Klassifikationssysteme vor, erläutern Vor- und Nachteile sowie Unterschiede und Gemeinsamkeiten und beschreiben den schrittweisen, systematischen Prozess, der eine erfolgreiche Variantenbewertung ermöglicht.
Identifiants
pubmed: 33938987
doi: 10.1007/s00292-021-00938-5
pii: 10.1007/s00292-021-00938-5
doi:
Types de publication
Journal Article
Review
Langues
ger
Sous-ensembles de citation
IM
Pagination
369-379Commentaires et corrections
Type : ErratumIn
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