• Mutation; 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
DeCristofaro M.F., Betz B.L., Wang W.-D., Weissman B.E.
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
Uno K., Takita J., Yokomori K., Tanaka Y., Ohta S., Shimada H., Gilles F.H., Sugita K., Abe S., Sako M., Hashizume K., Hayashi Y.
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
Yoshida S., Narita T., Taga T., Ohta S., Takeuchi Y.
Malignant rhabdoid tumor shows incomplete neural characteristics as revealed by expression of SNARE complex.
J. Neurosci. Res. 69:642-652(2002)

PubMed=24418192; DOI=10.1111/cas.12352
Takita J., Chen Y.-Y., Kato M., Ohki K., Sato Y., Ohta S., Sugita K., Nishimura R., Hoshino N., Seki M., Sanada M., Oka A., Hayashi Y., Ogawa S.
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
Nakayama R.T., Pulice J.L., Valencia A.M., McBride M.J., McKenzie Z.M., Gillespie M.A., Ku W.L., Teng M.-X., Cui K.-R., Williams R.T., Cassel S.H., Qing H., Widmer C.J., Demetri G.D., Irizarry R.A., Zhao K.-J., Ranish J.A., Kadoch C.
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
Ghandi M., Huang F.W., Jane-Valbuena J., Kryukov G.V., Lo C.C., McDonald E.R. III, Barretina J.G., Gelfand E.T., Bielski C.M., Li H.-X., Hu K., Andreev-Drakhlin A.Y., Kim J., Hess J.M., Haas B.J., Aguet F., Weir B.A., Rothberg M.V., Paolella B.R., Lawrence M.S., Akbani R., Lu Y.-L., Tiv H.L., Gokhale P.C., de Weck A., Mansour A.A., Oh C., Shih J., Hadi K., Rosen Y., Bistline J., Venkatesan K., Reddy A., Sonkin D., Liu M., Lehar J., Korn J.M., Porter D.A., Jones M.D., Golji J., Caponigro G., Taylor J.E., Dunning C.M., Creech A.L., Warren A.C., McFarland J.M., Zamanighomi M., Kauffmann A., Stransky N., Imielinski M., Maruvka Y.E., Cherniack A.D., Tsherniak A., Vazquez F., Jaffe J.D., Lane A.A., Weinstock D.M., Johannessen C.M., Morrissey M.P., Stegmeier F., Schlegel R., Hahn W.C., Getz G., Mills G.B., Boehm J.S., Golub T.R., Garraway L.A., Sellers W.R.
Next-generation characterization of the Cancer Cell Line Encyclopedia.
Nature 569:503-508(2019)