PMC8349212_01
(A) Germline DICER1 mutation (c.1088_1089delCTinsAA p.F363X) of the patient was confirmed by Sanger sequencing. (B) Germline DICER1 mutation (c.1088_1089delCTinsAA p.F363X) of the patient's mother was confirmed by Sanger sequencing. (C) Somatic DICER1 missense mutation in the exon 25 (c.5428G>T p.D1810Y) of Ovarian tissue. (D) Somatic DICER1 missense mutation in exon 24 (c.5126A>G p.D1709G) of thyroid tissue.
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Sanger sequencing (Figure 3A). Sequencing revealed that her DICER1 mutation was inherited from her mother (Figure 3B). DICER1 missense mutation in the exon 25 (c.5428G>T p. D1810Y) with the variant allele frequency of 50% (Figure 3C), and thyroid tissue revealed somatic mutations in DICER1 missense mutation in exon 24 (c.5126A>G p.D1709G) with the variant allele frequency of 24% (Figure 3D).