Abstract
Next-generation sequencing has become a cornerstone of therapy guidance in cancer precision medicine and an indispensable research tool in translational oncology. Its rapidly increasing use during the last decade has expanded the options for targeted tumor therapies, and molecular tumor boards have grown accordingly. However, with increasing detection of genetic alterations, their interpretation has become more complex and error-prone, potentially introducing biases and reducing benefits in clinical practice. To facilitate interdisciplinary discussions of genetic alterations for treatment stratification between pathologists, oncologists, bioinformaticians, genetic counselors and medical scientists in specialized molecular tumor boards, several systems for the classification of variants detected by large-scale sequencing have been proposed. We review three recent and commonly applied classifications and discuss their individual strengths and weaknesses. Comparison of the classifications underlines the need for a clinically useful and universally applicable variant reporting system, which will be instrumental for efficient decision making based on sequencing analysis in oncology. Integrating these data, we propose a generalizable classification concept featuring a conservative and a more progressive scheme, which can be readily applied in a clinical setting.
| Original language | English |
|---|---|
| Journal | International Journal of Cancer |
| Volume | 145 |
| Issue number | 11 |
| Pages (from-to) | 2996-3010 |
| Number of pages | 15 |
| ISSN | 0020-7136 |
| DOIs | |
| Publication status | Published - 01.12.2019 |
Funding
All members of the Center for Molecular Pathology at the University Hospital Heidelberg, DKFZ-HIPO and the members of the Molecular Tumor Board at NCT Heidelberg for generating the genetic data and continuous discussions and interpretation. This work was supported by grant H021 from DKFZ-HIPO to C.H., H.G., A.S. and S.F.
UN SDGs
This output contributes to the following UN Sustainable Development Goals (SDGs)
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SDG 3 Good Health and Well-being
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