High prevalence of SMARCB1 constitutional abnormalities including mosaicism in malignant rhabdoid tumors.
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ABSTRACT:
SUBMITTER: Shirai R
PROVIDER: S-EPMC7381660 | biostudies-literature | 2020 Aug
REPOSITORIES: biostudies-literature
Publications
High prevalence of SMARCB1 constitutional abnormalities including mosaicism in malignant rhabdoid tumors.
Shirai Ryota R Osumi Tomoo T Terashima Keita K Kiyotani Chikako C Uchiyama Meri M Tsujimoto Shinichi S Yoshida Masanori M Yoshida Kaoru K Uchiyama Toru T Tomizawa Daisuke D Shioda Yoko Y Sekiguchi Masahiro M Watanabe Kenichiro K Keino Dai D Ueno-Yokohata Hitomi H Ohki Kentaro K Takita Junko J Ito Shuichi S Deguchi Takao T Kiyokawa Nobutaka N Ogiwara Hideki H Hishiki Tomoro T Ogawa Seishi S Okita Hajime H Matsumoto Kimikazu K Yoshioka Takako T Kato Motohiro M
European journal of human genetics : EJHG 20200326 8
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. ...[more]
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