Germline-Focused Analysis of Tumour-Only Sequencing: Recommendations from the ESMO Precision Medicine Working Group
S'appuyant sur des données de séquençage portant sur 17 152 échantillons tumoraux, un groupe d'experts de l'"European Society for Medical Oncology" présente des recommandations en matière d'analyse de l'origine des variants pathogènes détectés au niveau de gènes de susceptibilité au cancer de l'ADN tumoral, puis présente des indications pour les tests génétiques en oncologie ainsi que des conseils pour l'information des patients et l'obtention d'un consentement éclairé
It is increasingly common in oncology practice to perform tumour sequencing using large cancer panels. For pathogenic sequence variants in cancer susceptibility genes identified on tumour-only sequencing, it is often unclear whether they are of somatic or constitutional (germline) origin. There is wide-spread disparity regarding both the extent to which systematic ‘germline-focused analysis’ is performed upon tumour sequencing data and for which variants follow-up analysis of a germline sample is performed. Here we present analyses of paired sequencing data from 17,152 cancer samples, in which 1494 pathogenic sequence variants were identified across 65 cancer susceptibility genes. From these analyses, the European Society of Medical Oncology Precision Medicine Working Group Germline Subgroup have generated (i) recommendations regarding germline-focused analyses of tumour-only sequencing data, (ii) indications for germline follow-up testing and (iii) guidance on patient information-giving and consent.
Annals of Oncology , article en libre accès, 2018