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

Ryota Shirai, Tomoo Osumi, Keita Terashima, Chikako Kiyotani, Meri Uchiyama, Shinichi Tsujimoto, Masanori Yoshida, Kaoru Yoshida, Toru Uchiyama, Daisuke Tomizawa, Yoko Shioda, Masahiro Sekiguchi, Kenichiro Watanabe, Dai Keino, Hitomi Ueno-Yokohata, Kentaro Ohki, Junko Takita, Shuichi Ito, Takao Deguchi, Nobutaka KiyokawaHideki Ogiwara, Tomoro Hishiki, Seishi Ogawa, Hajime Okita, Kimikazu Matsumoto, Takako Yoshioka, Motohiro Kato

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)1124-1128
Number of pages5
JournalEuropean Journal of Human Genetics
Volume28
Issue number8
DOIs
Publication statusPublished - 2020 Aug 1

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'High prevalence of SMARCB1 constitutional abnormalities including mosaicism in malignant rhabdoid tumors'. Together they form a unique fingerprint.

  • Cite this

    Shirai, R., Osumi, T., Terashima, K., Kiyotani, C., Uchiyama, M., Tsujimoto, S., Yoshida, M., Yoshida, K., Uchiyama, T., Tomizawa, D., Shioda, Y., Sekiguchi, M., Watanabe, K., Keino, D., Ueno-Yokohata, H., Ohki, K., Takita, J., Ito, S., Deguchi, T., ... Kato, M. (2020). High prevalence of SMARCB1 constitutional abnormalities including mosaicism in malignant rhabdoid tumors. European Journal of Human Genetics, 28(8), 1124-1128. https://doi.org/10.1038/s41431-020-0614-z