Genetic predisposition to medulloblastomas: just follow the tumour genome
Menée à partir d'échantillons tumoraux et/ou d'échantillons sanguins prélevés sur 1 022 patients atteints d'un médulloblastome, cette étude internationale analyse, en fonction du profil de méthylation de l'ADN tumoral, la prévalence de mutations constitutionnelles dans 110 gènes prédisposant aux cancers
The actual contribution of germline mutations to paediatric cancers has been a major concern for paediatricians, basic researchers, geneticists, epidemiologists, and parents for a long time. Next-generation sequencing approaches run on large cohorts of tumours offer a substantial contribution to helping to progressively disentangle this pending issue. The first notable piece of work1 in this field was produced by researchers from the St Jude Research Hospital (Memphis, TN, USA), evaluating the number of germline variants in known cancer genes, assessed using constitutional DNA from more than 1000 paediatric patients. The overall proportion of predisposing mutations defined across a total of 565 genes was not much higher (8·5%) than the expected values. By use of a similar approach, Sebastian M Waszak and colleagues2 report the results of germline mutation analyses in 110 cancer genes on 1022 patients with medulloblastomas.
The Lancet Oncology , commentaire, 2017