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.
- Horak, P.
- Leichsenring, J.
- Kreuzfeldt, S.
- Kazdal, D.
- Teleanu, V.
- Endris, V.
- Volckmar, A. L.
- Renner, M.
- Kirchner, M.
- Heilig, C. E.
- Neumann, O.
- Schirmacher, P.
- Fröhling, S.
- Stenzinger, A.
Keywords
- Mutation
- Neoplasm staging
- Precision medicine
- Tumor biomarkers
- Whole genome sequencing
