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letter
. 2017 May 18;116(12):1621–1626. doi: 10.1038/bjc.2017.147

Figure 2.

Figure 2

Graphic depiction of biallelic nature of DICER1 mutations identified in the recurrent ERMS of case 1. The exon 11 c.1785_1786insA mutation is in trans (Allele A, top panel) with the intron 12 c.2040+53_2040+54insT and exon 25 c.5439G>T mutations (Allele B, middle panel). The mutations are indicated by a triangle. Only 3 of 48 clones were found to express the exon 11 mutation, suggesting that the mutated transcript is almost always degraded by nonsense mediated decay (NMD) and thus, no protein is likely to be produced from this allele (p.0). No clones were found to exhibit aberrant splicing as a consequence of the intronic c.2040+53_2040_54insT mutation. As such, the resulting protein is predicted to be normal, except for the single amino acid substitution at position p.E1813 (asterisk, Allele B, middle panel). The wild-type (WT) scenario is depicted in the bottom panel. A full color version of this figure is available at the British Journal of Cancer journal online.