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Varianteninterpretation in der molekularen Pathologie und Onkologie

Eine Einführung

Variant interpretation in molecular pathology and oncology

An introduction

  • Schwerpunkt: Prädiktive molekulare Pathologie für die gezielte Tumortherapie
  • Published:
Der Pathologe Aims and scope Submit manuscript

An Erratum to this article was published on 04 October 2021

This article has been updated

Zusammenfassung

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.

Abstract

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.

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Author information

Authors and Affiliations

  1. Abteilung für Translationale Medizinische Onkologie, Nationales Centrum für Tumorerkrankungen (NCT) Heidelberg und Deutsches Krebsforschungszentrum (DKFZ), Heidelberg, Deutschland

    Peter Horak, Simon Kreutzfeldt, Veronica Teleanu, Marcus Renner, Christoph E. Heilig & Stefan Fröhling

  2. Deutsches Konsortium für Translationale Krebsforschung (DKTK), Heidelberg, Deutschland

    Peter Horak, Simon Kreutzfeldt, Veronica Teleanu, Marcus Renner, Christoph E. Heilig, Peter Schirmacher, Stefan Fröhling & Albrecht Stenzinger

  3. Institut für Pathologie, Zytologie und molekulare Diagnostik, REGIOMED Klinikum Coburg, Coburg, Deutschland

    Jonas Leichsenring

  4. Institut für Pathologie, Universitätsklinikum Heidelberg, Im Neuenheimer Feld 224, 69120, Heidelberg, Deutschland

    Jonas Leichsenring, Daniel Kazdal, Volker Endris, Anna-Lena Volckmar, Martina Kirchner, Olaf Neumann, Peter Schirmacher & Albrecht Stenzinger

  5. Deutsches Zentrum für Lungenforschung (DZL), Heidelberg, Deutschland

    Daniel Kazdal & Albrecht Stenzinger

  6. Medizinische Klinik V, Universitätsklinikum Heidelberg, Heidelberg, Deutschland

    Veronica Teleanu

Authors
  1. Peter Horak
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  2. Jonas Leichsenring
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  10. Christoph E. Heilig
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Corresponding author

Correspondence to Albrecht Stenzinger.

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Interessenkonflikt

P. Horak, J. Leichsenring, S. Kreutzfeldt, D. Kazdal, V. Teleanu, V. Endris, A.‑L. Volckmar, M. Renner, M. Kirchner, C. E. Heilig, O. Neumann, P. Schirmacher, S. Fröhling und A. Stenzinger geben an, dass kein Interessenkonflikt besteht.

Für diesen Beitrag wurden von den Autoren keine Studien an Menschen oder Tieren durchgeführt. Für die aufgeführten Studien gelten die jeweils dort angegebenen ethischen Richtlinien.

Additional information

Schwerpunktherausgeber

H. Kreipe, Hannover

W. Weichert, München

Die Autoren S. Fröhling und A. Stenzinger teilen sich die Letztautorenschaft.

Die ursprüngliche Online-Version dieses Artikels wurde überarbeitet: Der Name des Autors Simon Kreutzfeldt wurde korrigiert.

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Horak, P., Leichsenring, J., Kreutzfeldt, S. et al. Varianteninterpretation in der molekularen Pathologie und Onkologie. Pathologe 42, 369–379 (2021). https://doi.org/10.1007/s00292-021-00938-5

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  • DOI: https://doi.org/10.1007/s00292-021-00938-5

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