Standardisation of pathogenicity classification for somatic alterations in solid tumours and haematologic malignancies

Florence Koeppel,Etienne Muller,Alexandre Harlé,Céline Guien,Pierre Sujobert,Olfa Trabelsi Grati,Olivier Kosmider,Laurent Miguet,Laurent Mauvieux,Anne Cayre,David Salgado,Claude Preudhomme,Lucie Karayan-Tapon,Gaëlle Tachon,Florence Coulet, Alexandra Lespagnol,Christophe Beroud,Karen Leroy,Etienne Rouleau,Isabelle Soubeyran

European Journal of Cancer（2021）

引用 6|浏览12

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摘要

•Assessing pathogenicity of tumour variants with a systematic approach.•Connecting with the ACMG/AMP guidelines for germline variants.•Encompassing somatic specific criteria.

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关键词

Sequencing,Somatic variant,Pathogenicity,Interpretation,Precision oncology

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