Constitutional mosaicism of pathogenic variants in SMARCB1 in a subset of patients with sporadic rhabdoid tumors.

Lara S FleischmannKarolina NemesSelina GlaserAlexandra G KouroukliMatej BorosSusanne BensSonja DahlumHelene KretzmerFlorian OyenJoachim GerssMartin HasselblattMichael C FrühwaldReiner Siebert

Published in: Neuro-oncology (2024)

Constitutional mosaicism for pathogenic small SMARCB1 variants is recurrent in patients with allegedly sporadic rhabdoid tumors. The clinical implications of such variants need to be determined in larger, prospective cohorts also including detection of structural variants of SMARCB1.

Keyphrases

copy number
late onset
amyotrophic lateral sclerosis
gene expression
dna methylation
label free