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. 2020 Jun 19;9(6):1496. doi: 10.3390/cells9061496

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© 2020 by the authors.

Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).

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An overview of mutational profiles of SCCOHT. (A) Clinical characteristics of the cohort and tests performed. (B) Representative histopathology of a SCCOHT case from this cohort (IGR-04), including rhabdoid features; hematoxylin-eosin-saffron, scale bar: 50 μm. (C) Combined analysis of somatic-only and LOH-related alterations: an overview of the 14 genes altered in at least 50% of samples. (D) Breakdown of variants detected in the 14 recurrently altered genes, including classification as known polymorphisms (Genome Aggregation Database v.2.1.1) and Polyphen-2 functional prediction scores. N/A: not available. P/D: possibly or probably damaging. The variants for which functional impact cannot be ruled out are explicitly listed. (E) Type and localization of the mutations found by WES in the SMARCA4 gene; * indicates that this identical mutation was found in two independent patients.