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Michael Solarski, Fabio Rotondo, William D Foulkes, John R Priest, Luis V Syro, Henriett Butz, Michael D Cusimano, and Kalman Kovacs

Introduction In the last few years, the DICER1 gene and its mutations generated interest and have been investigated by several researchers. Results have shown that heterozygous germline DICER1 mutations cause a familial DICER1 tumor

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Johan O Paulsson, Na Wang, Jiwei Gao, Adam Stenman, Jan Zedenius, Ninni Mu, Weng-Onn Lui, Catharina Larsson, and C Christofer Juhlin

addition to known driver genes, DICER1 was found recurrently mutated in 7–10% of FTCs ( Yoo et al. 2016 , Nicolson et al. 2018 ). The DICER1 gene, located on chromosome 14q32.13, is comprised of 27 exons (ENST00000343455.7) and encodes a highly

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M K Wu, L de Kock, L S Conwell, C J R Stewart, B R King, C S Choong, K Hussain, N Sabbaghian, I J MacRae, M R Fabian, and W D Foulkes

thyroxine supplementation, and menses are regular. Figure 1 The proband has germ-line DICER1 mutation c.5441C>T, somatic mutation c.5428G>T in her MNG, and somatic mutation c.5125G>A in her SLCT. (A) Pedigree showing the germ-line mutation was paternally

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Samantha Peiling Yang and Joanne Ngeow

), familial adenomatous polyposis ( Cetta et al. 1998 , 2000 a ), Gardner syndrome ( Bell & Mazzaferri 1993 ), Carney complex type 1 ( Stratakis et al. 1996 , 1997 , 2001 ), Werner syndrome ( Yu et al. 1996 , Ishikawa et al . 1999 ) and DICER1

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Stefano Caramuta, Linkiat Lee, Deniz M Özata, Pinar Akçakaya, Hong Xie, Anders Höög, Jan Zedenius, Martin Bäckdahl, Catharina Larsson, and Weng-Onn Lui

synthesized from 100 ng of total RNA using High Capacity cDNA RT Kit (Applied Biosystems), and the mRNA expression was quantified for DICER ( DICER1 ) (ID_00998578_m1), DROSHA (ID_01095029_m1), TARBP2 (ID_00998379_m1), DGCR8 (ID_00987089_m1), PRKRA

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Catherine Goudie, Fady Hannah-Shmouni, Mahmure Kavak, Constantine A Stratakis, and William D Foulkes

disease. In red, year of the first description of the disease; in blue, year of gene discovery; in purple, year in which the association was made between the gene and the disease. BWS, Beckwith–Wiedemann syndrome; CC, Carney complex; DICER1 , DICER1

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William D Foulkes

DICER1 can alter microRNA profiles and functions ( Bahubeshi et al . 2011 , Heravi-Moussavi et al . 2011 ). Do marks become stamps? Despite these tremendous advances, the field of epigenetics has been held back due to lack of a single over

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Justin S Gundara, JingTing Zhao, Bruce G Robinson, and Stan B Sidhu

and DICER1 ( Kovaleva et al . 2012 ). miR-376b has also been shown to inhibit autophagy through ATG4C and BECN1 repression in both breast cancer (MCF-7) and hepatoma (Huh-7) cell lines ( Korkmaz et al . 2012 ). Comparable results have been

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Carolyn M Klinge

-miRNAs are exported from the nucleus by Exportin and Ran-GTP or CRM1 to the cytoplasm where they are cleaved by DICER ( DICER1 , an RNAse III enzyme) forming ~21–23 nt transiently double-stranded miRNA duplexes ( Kurzynska-Kokorniak et al . 2015 ). DICER, in

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Pamela Brock, Jennifer L Geurts, Paulien Van Galen, Erica Blouch, James Welch, Amy Kunz, Lauren Desrosiers, Jennifer Gauerke, and Samuel Hyde

2019 a , b ) ACMG/NSGC (Hampel et al. 2015) ATA (Haugen et al. 2016) CCR Pediatric Oncology Series (Schultz et al. 2017) DICER1 syndrome CCR Pediatric Oncology Series (Schultz et al. 2017) FAP  NCCN (NCCN 2019 b ) ACMG