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

研究成果: Article査読

抄録

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.

本文言語English
ページ(範囲)1124-1128
ページ数5
ジャーナルEuropean Journal of Human Genetics
28
8
DOI
出版ステータスPublished - 2020 8 1

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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