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. 2018 Feb 19;8:3252. doi: 10.1038/s41598-018-21663-9

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© The Author(s) 2018

Open Access This 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 license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license 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 license, visit http://creativecommons.org/licenses/by/4.0/.

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DICER1 mutations. Sequence traces from Sanger sequencing of the (A) Tumoral and (B) Germinal DNA. The arrow shows the insertion point, where a duplicate signal starts. (C) Nucleotide alignment of wild type (WT) and mutated (MT) sequences derived from the exome data, with the sequences obtained from RNA (RNA and RNAa). The inserted adenine is shown in cursive. (D) Sequence traces from the mother (i), father (ii) and brother (iii) of the affected individual.