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. 2021 Apr 28;20(4):355–362. doi: 10.1007/s10689-021-00258-w

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© The Author(s) 2021

Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 1 — Genetic testing of the proband’s family. a A pedigree of the proband’s family. The proband with SCCOHT had a germline mutation in exon 24 of the SMARCA4 gene (c.3310C > T) inherited from her father. This mutation was also identified in the proband’s sister. (+) denotes heterozygous mutation carrier in the germline; (−) denotes wild type in the germline. NOS denotes not otherwise specified. A diagonal line through a symbol indicates that the person is deceased. b Chromatograms of germline and somatic SMARCA4 mutations in the proband and proband’s parents. c Results of single-nucleotide polymorphism array analysis of the tumor genome in the patient with germline SMARCA4 mutation; Chromosome plot displays the presence of a loss of heterozygosity (LOH) at the 19p12-p13.3 region encompassing the SMARCA4. d Immunohistochemical staining of ovarian carcinoma using antibodies against BRG1 (100×). Loss of BRG1 expression was observed in 80% of cancer cells in the tumor. e.Hematoxylin–eosin staining of ovarian carcinoma of the proband (400×)