Back to Search Start Over

[Variant interpretation in molecular pathology and oncology : An introduction].

Authors :
Horak P
Leichsenring J
Kreutzfeldt S
Kazdal D
Teleanu V
Endris V
Volckmar AL
Renner M
Kirchner M
Heilig CE
Neumann O
Schirmacher P
Fröhling S
Stenzinger A
Source :
Der Pathologe [Pathologe] 2021 Jul; Vol. 42 (4), pp. 369-379. Date of Electronic Publication: 2021 May 03.
Publication Year :
2021

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.

Details

Language :
German
ISSN :
1432-1963
Volume :
42
Issue :
4
Database :
MEDLINE
Journal :
Der Pathologe
Publication Type :
Academic Journal
Accession number :
33938987
Full Text :
https://doi.org/10.1007/s00292-021-00938-5