High prevalence of SMARCB1 constitutional abnormalities including mosaicism in malignant rhabdoid tu...
High prevalence of SMARCB1 constitutional abnormalities including mosaicism in malignant rhabdoid tumors
About this item
Full title
Author / Creator
Shirai, Ryota , Osumi, Tomoo , Terashima, Keita , Kiyotani, Chikako , Uchiyama, Meri , Tsujimoto, Shinichi , Yoshida, Masanori , Yoshida, Kaoru , Uchiyama, Toru , Tomizawa, Daisuke , Shioda, Yoko , Sekiguchi, Masahiro , Watanabe, Kenichiro , Keino, Dai , Ueno-Yokohata, Hitomi , Ohki, Kentaro , Takita, Junko , Ito, Shuichi , Deguchi, Takao , Kiyokawa, Nobutaka , Ogiwara, Hideki , Hishiki, Tomoro , Ogawa, Seishi , Okita, Hajime , Matsumoto, Kimikazu , Yoshioka, Takako and Kato, Motohiro
Publisher
England: Nature Publishing Group
Journal title
Language
English
Formats
Publication information
Publisher
England: Nature Publishing Group
Subjects
More information
Scope and Contents
Contents
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.
Alternative Titles
Full title
High prevalence of SMARCB1 constitutional abnormalities including mosaicism in malignant rhabdoid tumors
Authors, Artists and Contributors
Author / Creator
Osumi, Tomoo
Terashima, Keita
Kiyotani, Chikako
Uchiyama, Meri
Tsujimoto, Shinichi
Yoshida, Masanori
Yoshida, Kaoru
Uchiyama, Toru
Tomizawa, Daisuke
Shioda, Yoko
Sekiguchi, Masahiro
Watanabe, Kenichiro
Keino, Dai
Ueno-Yokohata, Hitomi
Ohki, Kentaro
Takita, Junko
Ito, Shuichi
Deguchi, Takao
Kiyokawa, Nobutaka
Ogiwara, Hideki
Hishiki, Tomoro
Ogawa, Seishi
Okita, Hajime
Matsumoto, Kimikazu
Yoshioka, Takako
Kato, Motohiro
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7381660
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7381660
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/s41431-020-0614-z
