ATRT-11. PREVALENCE OF GERMLINE VARIANTS IN SMARCB1 INCLUDING SOMATIC MOSAICISM IN AT/RT AND OTHER RHABDOID TUMORS

BACKGROUND: Genetic hallmark of atypical teratoid/rhabdoid tumor (AT/RT) is loss-of-function variants or deletions in SMARCB1 gene on 22q11.2 chromosome, which is common to extracranial malignant rhabdoid tumors (MRT). Previous studies demonstrated that approximately one-thirds of AT/RT and extracra...

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Pubblicato in:Neuro Oncol
Autori principali: 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, Kato, Motohiro
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2020
Soggetti:
Atypical Teratoid/Rhabdoid Tumors
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7715345/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/neuonc/noaa222.011
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