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

https://www.ncbi.nlm.nih.gov/pubmed/34700215

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.