Horak Peter, Leichsenring Jonas, Kreutzfeldt Simon, Kazdal Daniel, Teleanu Veronica, Endris Volker, Volckmar Anna-Lena, Renner Marcus, Kirchner Martina, Heilig Christoph E, Neumann Olaf, Schirmacher Peter, Fröhling Stefan, Stenzinger Albrecht
Abteilung für Translationale Medizinische Onkologie, Nationales Centrum für Tumorerkrankungen (NCT) Heidelberg und Deutsches Krebsforschungszentrum (DKFZ), Heidelberg, Deutschland.
Deutsches Konsortium für Translationale Krebsforschung (DKTK), Heidelberg, Deutschland.
Pathologe. 2021 Jul;42(4):369-379. doi: 10.1007/s00292-021-00938-5. Epub 2021 May 3.
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.
在癌症精准医学中,基因组诊断日益广泛,这就需要针对变异体在功能和治疗意义方面的分类制定统一的评估标准。在本综述中,我们介绍了目前日常临床实践中使用的最重要的指南和分类系统,解释了它们的优缺点以及异同点,并介绍了能够成功解读变异体的逐步、系统的流程。