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

Ryota ShiraiTomoo OsumiKeita TerashimaChikako KiyotaniMeri UchiyamaShinichi TsujimotoMasanori YoshidaKaoru YoshidaToru UchiyamaDaisuke TomizawaYoko ShiodaMasahiro SekiguchiKenichiro WatanabeDai KeinoHitomi Ueno-YokohataKentaro OhkiJunko TakitaShuichi ItoTakao DeguchiNobutaka KiyokawaHideki OgiwaraTomoro HishikiSeishi OgawaHajime OkitaKimikazu MatsumotoTakako YoshiokaMotohiro Kato

Published in: European journal of human genetics : EJHG (2020)

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.

Keyphrases

end stage renal disease
ejection fraction
genome wide
chronic kidney disease
copy number
risk factors
papillary thyroid
genome wide identification
single cell
dna methylation
squamous cell