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Variant classification in precision oncology.

Jonas Leichsenring1, Peter Horak2,3, Simon Kreutzfeldt2,3

  • 1Institute of Pathology, University Hospital Heidelberg, Heidelberg, Germany.

International Journal of Cancer
|April 23, 2019
PubMed
Summary
This summary is machine-generated.

Next-generation sequencing aids cancer precision medicine, but interpreting genetic alterations is complex. This study reviews variant classification systems and proposes a unified approach for better clinical decision-making.

Keywords:
molecular pathologymolecular tumor boardnext-generation sequencingvariant classification

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Area of Science:

  • Oncology
  • Genomics
  • Bioinformatics

Background:

  • Next-generation sequencing (NGS) is crucial for cancer precision medicine and translational oncology research.
  • The increasing use of NGS has led to more targeted therapies and the rise of molecular tumor boards.
  • Interpreting the growing number of detected genetic alterations is complex and prone to errors, potentially impacting clinical benefits.

Purpose of the Study:

  • To review and compare existing classification systems for genetic variants detected by NGS.
  • To highlight the need for a standardized and clinically applicable variant reporting system.
  • To propose a generalizable classification concept for use in clinical settings.

Main Methods:

  • Literature review of three recent and commonly applied variant classification systems.
  • Comparative analysis of the strengths and weaknesses of each system.
  • Development of a proposed generalizable classification concept.

Main Results:

  • Existing classification systems have individual strengths and weaknesses.
  • A universally applicable variant reporting system is needed for efficient oncology decision-making.
  • A proposed classification concept offers both conservative and progressive schemes for clinical application.

Conclusions:

  • Standardized classification of genetic variants is essential for effective cancer treatment stratification.
  • The proposed classification concept can facilitate interdisciplinary discussions in molecular tumor boards.
  • A unified system will improve the clinical utility of NGS data in oncology.