Evaluation of the Molecular Landscape of Pediatric Thyroid Nodules and Use of a Multigene Genomic Classifier in Children.
Jama Oncology
Gallant, Jean-Nicolas JN; Chen, Sheau-Chiann SC; Ortega, Carlos A CA; Rohde, Sarah L SL; Belcher, Ryan H RH; Netterville, James L JL; Baregamian, Naira N; Wang, Huiying H; Liang, Jiancong J; Ye, Fei F; Nikiforov, Yuri E YE; Nikiforova, Marina N MN; Weiss, Vivian L VL
Publication Date: 2022-09-01
Variant appearance in text: DICER1: 5437G>C; E1813Q
A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1.
Journal Of Medical Genetics
Pontén, Emeli E; Frisk, Sofia S; Taylan, Fulya F; Vaz, Raquel R; Wessman, Sandra S; de Kock, Leanne L; Pal, Niklas N; Foulkes, William D WD; Lagerstedt-Robinson, Kristina K; Nordgren, Ann A
Publication Date: 2020-11-18
Variant appearance in text: DICER1: 5437G>C; E1813Q
A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1.
Journal Of Medical Genetics
Pontén, Emeli E; Frisk, Sofia S; Taylan, Fulya F; Vaz, Raquel R; Wessman, Sandra S; de Kock, Leanne L; Pal, Niklas N; Foulkes, William D WD; Lagerstedt-Robinson, Kristina K; Nordgren, Ann A
Publication Date: 2022-02
Variant appearance in text: DICER1: 5437G>C; E1813Q
Malignant teratoid tumor of the thyroid gland: an aggressive primitive multiphenotypic malignancy showing organotypical elements and frequent DICER1 alterations-is the term "thyroblastoma" more appropriate?
Virchows Archiv : An International Journal Of Pathology
Agaimy, Abbas A; Witkowski, Leora L; Stoehr, Robert R; Cuenca, Joseph Christopher Castillo JCC; González-Muller, Carlos Alberto CA; Brütting, Alfred A; Bährle, Markus M; Mantsopoulos, Konstantinos K; Amin, Randa M S RMS; Hartmann, Arndt A; Metzler, Markus M; Amr, Samir S SS; Foulkes, William D WD; Sobrinho-Simões, Manuel M; Eloy, Catarina C
Phase and context shape the function of composite oncogenic mutations.
Nature
Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS
GABPA-dependent down-regulation of DICER1 in follicular thyroid tumours.
Endocrine-Related Cancer
Paulsson, Johan O JO; Wang, Na N; Gao, Jiwei J; Stenman, Adam A; Zedenius, Jan J; Mu, Ninni N; Lui, Weng-Onn WO; Larsson, Catharina C; Juhlin, C Christofer CC
Publication Date: 2020-05
Variant appearance in text: DICER1: 5437G>C; E1813Q
Poorly differentiated thyroid carcinoma of childhood and adolescence: a distinct entity characterized by DICER1 mutations.
Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Chernock, Rebecca D RD; Rivera, Barbara B; Borrelli, Nicla N; Hill, D Ashley DA; Fahiminiya, Somayyeh S; Shah, Tasha T; Chong, Anne-Sophie AS; Aqil, Barina B; Mehrad, Mitra M; Giordano, Thomas J TJ; Sheridan, Rachel R; Rutter, Meilan M MM; Dehner, Louis P LP; Foulkes, William D WD; Nikiforov, Yuri E YE
Hotspot Mutations in DICER1 Causing GLOW Syndrome-Associated Macrocephaly via Modulation of Specific microRNA Populations Result in the Activation of PI3K/ATK/mTOR Signaling.
Clinical utility of custom-designed NGS panel testing in pediatric tumors.
Genome Medicine
Surrey, Lea F LF; MacFarland, Suzanne P SP; Chang, Fengqi F; Cao, Kajia K; Rathi, Komal S KS; Akgumus, Gozde T GT; Gallo, Daniel D; Lin, Fumin F; Gleason, Adam A; Raman, Pichai P; Aplenc, Richard R; Bagatell, Rochelle R; Minturn, Jane J; Mosse, Yael Y; Santi, Mariarita M; Tasian, Sarah K SK; Waanders, Angela J AJ; Sarmady, Mahdi M; Maris, John M JM; Hunger, Stephen P SP; Li, Marilyn M MM
Publication Date: 2019-05-28
Variant appearance in text: DICER1: 5437G>C; Glu1813Gln
An integrated genomic analysis of anaplastic meningioma identifies prognostic molecular signatures.
Scientific Reports
Collord, Grace G; Tarpey, Patrick P; Kurbatova, Natalja N; Martincorena, Inigo I; Moran, Sebastian S; Castro, Manuel M; Nagy, Tibor T; Bignell, Graham G; Maura, Francesco F; Young, Matthew D MD; Berna, Jorge J; Tubio, Jose M C JMC; McMurran, Chris E CE; Young, Adam M H AMH; Sanders, Mathijs M; Noorani, Imran I; Price, Stephen J SJ; Watts, Colin C; Leipnitz, Elke E; Kirsch, Matthias M; Schackert, Gabriele G; Pearson, Danita D; Devadass, Abel A; Ram, Zvi Z; Collins, V Peter VP; Allinson, Kieren K; Jenkinson, Michael D MD; Zakaria, Rasheed R; Syed, Khaja K; Hanemann, C Oliver CO; Dunn, Jemma J; McDermott, Michael W MW; Kirollos, Ramez W RW; Vassiliou, George S GS; Esteller, Manel M; Behjati, Sam S; Brazma, Alvis A; Santarius, Thomas T; McDermott, Ultan U
Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma.
British Journal Of Cancer
de Kock, Leanne L; Rivera, Barbara B; Revil, Timothée T; Thorner, Paul P; Goudie, Catherine C; Bouron-Dal Soglio, Dorothée D; Choong, Catherine S CS; Priest, John R JR; van Diest, Paul J PJ; Tanboon, Jantima J; Wagner, Anja A; Ragoussis, Jiannis J; Choong, Peter Fm PF; Foulkes, William D WD
Quantification of Thyroid Cancer and Multinodular Goiter Risk in the DICER1 Syndrome: A Family-Based Cohort Study.
The Journal Of Clinical Endocrinology And Metabolism
Khan, Nicholas E NE; Bauer, Andrew J AJ; Schultz, Kris Ann P KAP; Doros, Leslie L; Decastro, Rosamma M RM; Ling, Alexander A; Lodish, Maya B MB; Harney, Laura A LA; Kase, Ron G RG; Carr, Ann G AG; Rossi, Christopher T CT; Field, Amanda A; Harris, Anne K AK; Williams, Gretchen M GM; Dehner, Louis P LP; Messinger, Yoav H YH; Hill, D Ashley DA; Stewart, Douglas R DR
Publication Date: 2017-05-01
Variant appearance in text: DICER1: 5437G>C; Glu1813Gln
Comprehensive Analysis of the Transcriptional and Mutational Landscape of Follicular and Papillary Thyroid Cancers.
Plos Genetics
Yoo, Seong-Keun SK; Lee, Seungbok S; Kim, Su-Jin SJ; Jee, Hyeon-Gun HG; Kim, Byoung-Ae BA; Cho, Hyesun H; Song, Young Shin YS; Cho, Sun Wook SW; Won, Jae-Kyung JK; Shin, Jong-Yeon JY; Park, Do Joon do J; Kim, Jong-Il JI; Lee, Kyu Eun KE; Park, Young Joo YJ; Seo, Jeong-Sun JS
Temporal order of RNase IIIb and loss-of-function mutations during development determines phenotype in DICER1 syndrome: a unique variant of the two-hit tumor suppression model.
F1000Research
Brenneman, Mark M; Field, Amanda A; Yang, Jiandong J; Williams, Gretchen G; Doros, Leslie L; Rossi, Christopher C; Schultz, Kris Ann KA; Rosenberg, Avi A; Ivanovich, Jennifer J; Turner, Joyce J; Gordish-Dressman, Heather H; Stewart, Douglas D; Yu, Weiying W; Harris, Anne A; Schoettler, Peter P; Goodfellow, Paul P; Dehner, Louis L; Messinger, Yoav Y; Hill, D Ashley DA
A survey of DICER1 hotspot mutations in ovarian and testicular sex cord-stromal tumors.
Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Conlon, Niamh N; Schultheis, Anne M AM; Piscuoglio, Salvatore S; Silva, Annacarolina A; Guerra, Esther E; Tornos, Carmen C; Reuter, Victor E VE; Soslow, Robert A RA; Young, Robert H RH; Oliva, Esther E; Weigelt, Britta B
The many faces of Dicer: the complexity of the mechanisms regulating Dicer gene expression and enzyme activities.
Nucleic Acids Research
Kurzynska-Kokorniak, Anna A; Koralewska, Natalia N; Pokornowska, Maria M; Urbanowicz, Anna A; Tworak, Aleksander A; Mickiewicz, Agnieszka A; Figlerowicz, Marek M
Martelotto, Luciano G LG; Ng, Charlotte Ky CK; De Filippo, Maria R MR; Zhang, Yan Y; Piscuoglio, Salvatore S; Lim, Raymond S RS; Shen, Ronglai R; Norton, Larry L; Reis-Filho, Jorge S JS; Weigelt, Britta B
Nasal chondromesenchymal hamartomas arise secondary to germline and somatic mutations of DICER1 in the pleuropulmonary blastoma tumor predisposition disorder.
Human Genetics
Stewart, Douglas R DR; Messinger, Yoav Y; Williams, Gretchen M GM; Yang, Jiandong J; Field, Amanda A; Schultz, Kris Ann P KA; Harney, Laura A LA; Doros, Leslie A LA; Dehner, Louis P LP; Hill, D Ashley DA
Exome sequencing of pleuropulmonary blastoma reveals frequent biallelic loss of TP53 and two hits in DICER1 resulting in retention of 5p-derived miRNA hairpin loop sequences.
Oncogene
Pugh, T J TJ; Yu, W W; Yang, J J; Field, A L AL; Ambrogio, L L; Carter, S L SL; Cibulskis, K K; Giannikopoulos, P P; Kiezun, A A; Kim, J J; McKenna, A A; Nickerson, E E; Getz, G G; Hoffher, S S; Messinger, Y H YH; Dehner, L P LP; Roberts, C W M CW; Rodriguez-Galindo, C C; Williams, G M GM; Rossi, C T CT; Meyerson, M M; Hill, D A DA
Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase IIIb domain of DICER1 cause GLOW syndrome.
Journal Of Medical Genetics
Klein, Steven S; Lee, Hane H; Ghahremani, Shahnaz S; Kempert, Pamela P; Ischander, Mariam M; Teitell, Michael A MA; Nelson, Stanley F SF; Martinez-Agosto, Julian A JA
DICER1 hotspot mutations in non-epithelial gonadal tumours.
British Journal Of Cancer
Witkowski, L L; Mattina, J J; Schönberger, S S; Murray, M J MJ; Choong, C S CS; Huntsman, D G DG; Reis-Filho, J S JS; McCluggage, W G WG; Nicholson, J C JC; Coleman, N N; Calaminus, G G; Schneider, D T DT; Arseneau, J J; Stewart, C J R CJ; Foulkes, W D WD
Publication Date: 2013-11-12
Variant appearance in text: DICER1: 5437G>C; E1813Q