Literature DB >> 34331337

Assigning evidence to actionability: An introduction to variant interpretation in precision cancer medicine.

Peter Horak1,2,3, Jonas Leichsenring4,5, Hannah Goldschmid5, Simon Kreutzfeldt1,2, Daniel Kazdal5,6, Veronica Teleanu1,2,7, Volker Endris5, Laura Gieldon8, Michael Allgäuer5, Anna-Lena Volckmar5, Nicola Dikow8, Marcus Renner1,2, Martina Kirchner5, Roland Penzel5, Carolin Ploeger3,5, Regine Brandt5, Huriye Seker-Cin5, Jan Budczies2,5,6, Christoph E Heilig1,2, Olaf Neumann5, Christian P Schaaf8, Peter Schirmacher2,3,5, Stefan Fröhling1,2,3, Albrecht Stenzinger2,3,5,6.   

Abstract

Modern concepts in precision cancer medicine are based on increasingly complex genomic analyses and require standardized criteria for the functional evaluation and reporting of detected genomic alterations in order to assess their clinical relevance. In this article, we propose and address the necessary steps in systematic variant evaluation consisting of bioinformatic analysis, functional annotation and clinical interpretation, focusing on the latter two aspects. We discuss the role and clinical application of current variant classification systems and point out their scope and limitations. Finally, we highlight the significance of the molecular tumor board as a platform for clinical decision-making based on genomic analyses.
© 2021 The Authors. Genes, Chromosomes and Cancer published by Wiley Periodicals LLC.

Entities:  

Keywords:  molecular biomarker; molecular tumor board; precision oncology; variant classification

Mesh:

Year:  2021        PMID: 34331337     DOI: 10.1002/gcc.22987

Source DB:  PubMed          Journal:  Genes Chromosomes Cancer        ISSN: 1045-2257            Impact factor:   5.006


  3 in total

Review 1.  The spectrum of sex differences in cancer.

Authors:  Joshua B Rubin
Journal:  Trends Cancer       Date:  2022-02-18

2.  Molecular characterization of an embryonal rhabdomyosarcoma occurring in a patient with Kabuki syndrome: report and literature review in the light of tumor predisposition syndromes.

Authors:  Sietse M Aukema; Selina Glaser; Mari F C M van den Hout; Sonja Dahlum; Marinus J Blok; Morten Hillmer; Julia Kolarova; Raf Sciot; Dina A Schott; Reiner Siebert; Constance T R M Stumpel
Journal:  Fam Cancer       Date:  2022-07-19       Impact factor: 2.446

3.  The significance of the fusion partner gene genomic neighborhood analysis in translocation-defined tumors.

Authors:  Elaheh Mosaieby; Petr Martínek; Ondrej Ondič
Journal:  Mol Genet Genomic Med       Date:  2022-05-27       Impact factor: 2.473

  3 in total

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