High prevalence of SMARCB1 constitutional abnormalities including mosaicism in malignant rhabdoid tumors.

ABSTRACT: Intensive analysis of the SMARCB1 gene in malignant rhabdoid tumors (MRT) revealed eight of 16 patients with constitutional genetic variants. Three patients had mosaicism of deletion/variant of the SMARCB1 gene, which conventional methods might overlook. The prevalence of cancer predisposition in MRT may thus be higher than previously reported.

SUBMITTER: Shirai R 

PROVIDER: S-EPMC7381660 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature