• Mutation; HGNC; HGNC:11103; SMARCB1; Simple; p.Glu216Ter (c.646G>T); Zygosity=Unspecified (PubMed=10602515; PubMed=11921280; PubMed=28945250).
  

PubMed=10602515; DOI=10.1038/sj.onc.1203168
Marc F. DeCristofaro, Bryan L. Betz, Wei-Dong Wang, Bernard E. Weissman;
Alteration of hSNF5/INI1/BAF47 detected in rhabdoid cell lines and primary rhabdomyosarcomas but not Wilms' tumors.
Oncogene 18:7559-7565(1999)

PubMed=11921280; DOI=10.1002/gcc.10052
Kaoru Uno, Junko Takita, Kinji Yokomori, Yukichi Tanaka, Shigeru Ohta, Hiroyuki Shimada, Floyd Harry Gilles, Kanji Sugita, Satoshi Abe, Masahiro Sako, Kohei Hashizume, Yasuhide Hayashi;
Aberrations of the hSNF5/INI1 gene are restricted to malignant rhabdoid tumors or atypical teratoid/rhabdoid tumors in pediatric solid tumors.
Genes Chromosomes Cancer 34:33-41(2002)

PubMed=12210830; DOI=10.1002/jnr.10330
Shinobu Yoshida, Tsutomu Narita, Takashi Taga, Shigeru Ohta, Yoshihiro Takeuchi;
Malignant rhabdoid tumor shows incomplete neural characteristics as revealed by expression of SNARE complex.
J. Neurosci. Res. 69:642-652(2002)

PubMed=14662021; DOI=10.1111/j.1349-7006.2003.tb01401.x; PMCID=PMC11160295
Hirofumi Kato, Shigeru Ohta, Shigeki Koshida, Tsutomu Narita, Takashi Taga, Yoshihiro Takeuchi, Kanji Sugita;
Expression of pericyte, mesangium and muscle markers in malignant rhabdoid tumor cell lines: differentiation-induction using 5-azacytidine.
Cancer Sci. 94:1059-1065(2003)

PubMed=24418192; DOI=10.1111/cas.12352; PMCID=PMC4317948
Junko Takita, Yu-Yan Chen, Motohiro Kato, Kentaro Ohki, Yusuke Sato, Shigeru Ohta, Kanji Sugita, Riki Nishimura, Noriko Hoshino, Masafumi Seki, Masashi Sanada ...Show all 14 authors... , Akira Oka, Yasuhide Hayashi, Seishi Ogawa; Show fewer authors
Genome-wide approach to identify second gene targets for malignant rhabdoid tumors using high-density oligonucleotide microarrays.
Cancer Sci. 105:258-264(2014)

PubMed=28945250; DOI=10.1038/ng.3958; PMCID=PMC5803080
Robert T. Nakayama, John L. Pulice, Alfredo M. Valencia, Matthew J. McBride, Zachary M. McKenzie, Mark A. Gillespie, Wai Lim Ku, Ming-Xiang Teng, Kai-Rong Cui, Robert T. Williams, Seth H. Cassel ...Show all 18 authors... , He Qing, Christian J. Widmer, George Daniel Demetri, Rafael Angel Irizarry, Ke-Ji Zhao, Jeffrey A. Ranish, Cigall Kadoch; Show fewer authors
SMARCB1 is required for widespread BAF complex-mediated activation of enhancers and bivalent promoters.
Nat. Genet. 49:1613-1623(2017)

PubMed=31068700; DOI=10.1038/s41586-019-1186-3; PMCID=PMC6697103
Mahmoud Ghandi, Franklin W. Huang, Judit Jane-Valbuena, Gregory V. Kryukov, Christopher C. Lo, E. Robert McDonald 3rd, Jordi Ginesta Barretina, Ellen T. Gelfand, Craig M. Bielski, Hao-Xin Li, Kevin Hu ...Show all 68 authors... , Alexander Y. Andreev-Drakhlin, Jaegil Kim, Julian M. Hess, Brian J. Haas, Francois Aguet, Barbara A. Weir, Michael V. Rothberg, Brenton R. Paolella, Michael Scott Lawrence, Rehan Akbani, Yi-Ling Lu, Hong L. Tiv, Prafulla C. Gokhale, Antoine de Weck, Ali Amin Mansour, Coyin Oh, Juliann Shih, Kevin Hadi, Yanay Rosen, Jonathan Bistline, Kavitha Venkatesan, Anupama Reddy, Dmitriy Sonkin, Manway Liu, Joseph Lehar, Joshua M. Korn, Dale A. Porter, Michael D. Jones, Javad Golji, Giordano Caponigro, Jordan E. Taylor, Caitlin M. Dunning, Amanda L. Creech, Allison C. Warren, James M. McFarland, Mahdi Zamanighomi, Audrey Kauffmann, Nicolas Stransky, Marcin Imielinski, Yosef E. Maruvka, Andrew D. Cherniack, Aviad Tsherniak, Francisca Vazquez, Jacob D. Jaffe, Andrew Alan Lane, David M. Weinstock, Cory M. Johannessen, Michael P. Morrissey, Frank Stegmeier, Robert Schlegel, William Chun Hahn, Gad Getz, Gordon B. Mills, Jesse S. Boehm, Todd Robert Golub, Levi Alexander Garraway, William Raj Sellers; Show fewer authors
Next-generation characterization of the Cancer Cell Line Encyclopedia.
Nature 569:503-508(2019)