Literature DB >> 33938987

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

Peter Horak1,2, Jonas Leichsenring3,4, Simon Kreuzfeldt1,2, Daniel Kazdal4,5, Veronica Teleanu1,2,6, Volker Endris4, Anna-Lena Volckmar4, Marcus Renner1,2, Martina Kirchner4, Christoph E Heilig1,2, Olaf Neumann4, Peter Schirmacher2,4, Stefan Fröhling1,2, Albrecht Stenzinger7,8,9.   

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.

Entities:  

Keywords:  Mutation; Neoplasm staging; Precision medicine; Tumor biomarkers; Whole genome sequencing

Mesh：

Year:  2021        PMID： 33938987     DOI： 10.1007/s00292-021-00938-5

Source DB:  PubMed          Journal:  Pathologe        ISSN： 0172-8113            Impact factor:   1.011


  4 in total

1.  Preferences to receive unsolicited findings of germline genome sequencing in a large population of patients with cancer.

Authors:  Rhode Bijlsma; Roel Wouters; Hester Wessels; Stefan Sleijfer; Laurens Beerepoot; Daan Ten Bokkel Huinink; Hester Cruijsen; Joan Heijns; Martijn P Lolkema; Neeltje Steeghs; Theo van Voorthuizen; Annelie Vulink; Els Witteveen; Margreet Ausems; Annelien Bredenoord; Anne M May; Emile Voest
Journal:  ESMO Open       Date:  2020-04

2.  Comprehensive Perspective for Lung Cancer Characterisation Based on AI Solutions Using CT Images.

Authors:  Tania Pereira; Cláudia Freitas; José Luis Costa; Joana Morgado; Francisco Silva; Eduardo Negrão; Beatriz Flor de Lima; Miguel Correia da Silva; António J Madureira; Isabel Ramos; Venceslau Hespanhol; António Cunha; Hélder P Oliveira
Journal:  J Clin Med       Date:  2020-12-31       Impact factor: 4.241

3.  Multicenter Comparison of Molecular Tumor Boards in The Netherlands: Definition, Composition, Methods, and Targeted Therapy Recommendations.

Authors:  Bart Koopman; Harry J M Groen; Marjolijn J L Ligtenberg; Katrien Grünberg; Kim Monkhorst; Adrianus J de Langen; Mirjam C Boelens; Marthe S Paats; Jan H von der Thüsen; Winand N M Dinjens; Nienke Solleveld; Tom van Wezel; Hans Gelderblom; Lizza E Hendriks; Ernst-Jan M Speel; Tom E Theunissen; Leonie I Kroeze; Niven Mehra; Berber Piet; Anthonie J van der Wekken; Arja Ter Elst; Wim Timens; Stefan M Willems; Ruud W J Meijers; Wendy W J de Leng; Anne S R van Lindert; Teodora Radonic; Sayed M S Hashemi; Daniëlle A M Heideman; Ed Schuuring; Léon C van Kempen
Journal:  Oncologist       Date:  2020-11-10
  4 in total

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