Are sarcomas hereditary?
A partir de données de 4 cohortes incluant 1 162 patients atteints de sarcome (âge médian : 46 ans), cette étude internationale évalue l'association entre des variants pathogènes monogéniques ou polygéniques et le risque de la maladie
Oncologists who treat sarcomas are frequently asked by their patients about the cause of their cancer. Until now, with the exception of Li-Fraumeni syndrome,1 hereditary retinoblastoma,2 and neurofibromatosis, which could be excluded by history and physical examination, the answer was usually: “almost all cases of sarcomas are not hereditary”. A genetic study by Mandy Ballinger and colleagues3 reported in The Lancet Oncology, now throws this answer into a different light. In one of the most important studies on sarcomas in recent years, the investigators performed targeted exon sequencing on 72 genes, selected because of associations with increased cancer risk, in 1162 patients in four sarcoma cohorts, and using a case–control rare variant burden analysis found that about half of the patients had an excess of pathogenic (and potentially aetiological) germline variants.