Standardisation of pathogenicity classification for somatic alterations in solid tumours and haematologic malignancies.
Fiche publication
Date publication
octobre 2021
Journal
European journal of cancer (Oxford, England : 1990)
Auteurs
Membres identifiés du Cancéropôle Est :
Pr HARLE Alexandre, Pr MAUVIEUX Laurent, Dr MIGUET Laurent
Tous les auteurs :
Koeppel F, Muller E, Harlé A, Guien C, Sujobert P, Trabelsi Grati O, Kosmider O, Miguet L, Mauvieux L, Cayre A, Salgado D, Preudhomme C, Karayan-Tapon L, Tachon G, Coulet F, Lespagnol A, Beroud C, Leroy K, Rouleau E, Soubeyran I
Lien Pubmed
Résumé
The difficulty in interpreting somatic alterations is correlated with the increase in sequencing panel size. To correctly guide the clinical management of patients with cancer, there needs to be accurate classification of pathogenicity followed by actionability assessment. Here, we describe a specific detailed workflow for the classification of the pathogenicity of somatic variants in cancer into five categories: benign, likely benign, unknown significance, likely pathogenic and pathogenic.
Mots clés
Interpretation, Pathogenicity, Precision oncology, Sequencing, Somatic variant
Référence
Eur J Cancer. 2021 Oct 23;159:1-15