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. 2019 May 31;145(10):2781–2791. doi: 10.1002/ijc.32361

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© 2019 The Authors. International Journal of Cancer published by John Wiley & Sons Ltd on behalf of UICC

This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.

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Example of double event (LOH and SNV in SMARCA4 gene) in SKNFI NB cell line. (a) The IGV profile from TSCA ampliseq analysis revealed the presence of one SNV in SMARCA4 gene (C>T; Chr19: 11170813) with variant allele fraction of 99%. (b) The copy number profile obtained by TSCA shows the presence of a second event with copy number loss in the same gene. (c) Immunoblot of SMARCA4 expression in different neuroblastoma and nonneuroblastoma cell lines. BIN67: Small cell carcinoma of the ovary of hypercalcemic type; A549: lung carcinoma; SKNSH, SKNFI, SKNBE(2C), IMR32 and TGW: neuroblastoma. (d) SNVs, inDels and focal CNAs identified in SMARCA4 gene mapping functional domains in patients enrolled in the study.