SMARCAL1 è un nuovo gene di predisposizione all'osteosarcoma.

Osteosarcoma, the most common childhood bone tumor, can occur in rare cancer predisposition syndromes; however, most are sporadic with no known predisposing factors. We investigated the frequency of SMARCAL1 putative pathogenic variants in our large ongoing study of 2119 osteosarcoma patients, their relation to patient characteristics, and the population prevalence. Our analysis uncovered a higher frequency of SMARCAL1 pathogenic variants across 3 osteosarcoma patient sets (1.8%, n = 2119) than in 2625 comparably sequenced cancer-free individuals (0.3%; P < .001). Patients with SMARCAL1 pathogenic variants had statistically significantly improved overall survival compared with patients witho