DICER1 RNase IIIb domain mutations trigger widespread miRNA dysregulation and MAPK activation in pediatric thyroid cancer.
Frontiers In Endocrinology
Ricarte-Filho, Julio C JC; Casado-Medrano, Victoria V; Reichenberger, Erin E; Spangler, Zachary Z; Scheerer, Michele M; Isaza, Amber A; Baran, Julia J; Patel, Tasleema T; MacFarland, Suzanne P SP; Brodeur, Garrett M GM; Stewart, Douglas R DR; Baloch, Zubair Z; Bauer, Andrew J AJ; Wasserman, Jonathan D JD; Franco, Aime T AT
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>A; E1813K
Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.
Nature Biotechnology
Sánchez-Rivera, Francisco J FJ; Diaz, Bianca J BJ; Kastenhuber, Edward R ER; Schmidt, Henri H; Katti, Alyna A; Kennedy, Margaret M; Tem, Vincent V; Ho, Yu-Jui YJ; Leibold, Josef J; Paffenholz, Stella V SV; Barriga, Francisco M FM; Chu, Kevan K; Goswami, Sukanya S; Wuest, Alexandra N AN; Simon, Janelle M JM; Tsanov, Kaloyan M KM; Chakravarty, Debyani D; Zhang, Hongxin H; Leslie, Christina S CS; Lowe, Scott W SW; Dow, Lukas E LE
IDH-wild type glioblastomas featuring at least 30% giant cells are characterized by frequent RB1 and NF1 alterations and hypermutation.
Acta Neuropathologica Communications
Barresi, Valeria V; Simbolo, Michele M; Mafficini, Andrea A; Martini, Maurizio M; Calicchia, Martina M; Piredda, Maria Liliana ML; Ciaparrone, Chiara C; Bonizzato, Giada G; Ammendola, Serena S; Caffo, Maria M; Pinna, Giampietro G; Sala, Francesco F; Lawlor, Rita Teresa RT; Ghimenton, Claudio C; Scarpa, Aldo A
Publication Date: 2021-12-24
Variant appearance in text: DICER1: 5437G>A; Glu1813Lys
IDH-wild type glioblastomas featuring at least 30% giant cells are characterized by frequent RB1 and NF1 alterations and hypermutation.
Acta Neuropathologica Communications
Barresi, Valeria V; Simbolo, Michele M; Mafficini, Andrea A; Martini, Maurizio M; Calicchia, Martina M; Piredda, Maria Liliana ML; Ciaparrone, Chiara C; Bonizzato, Giada G; Ammendola, Serena S; Caffo, Maria M; Pinna, Giampietro G; Sala, Francesco F; Lawlor, Rita Teresa RT; Ghimenton, Claudio C; Scarpa, Aldo A
Publication Date: 2021-12-24
Variant appearance in text: DICER1: 5437G>A; Glu1813Lys
Clinical and Molecular Characteristics and Outcome of Cystic Partially Differentiated Nephroblastoma and Cystic Nephroma: A Narrative Review of the Literature.
Cancers
van Peer, Sophie E SE; Pleijte, Corine J H CJH; de Krijger, Ronald R RR; Jongmans, Marjolijn C J MCJ; Kuiper, Roland P RP; Lilien, Marc R MR; van Grotel, Martine M; Graf, Norbert N; van den Heuvel-Eibrink, Marry M MM; Hol, Janna A JA
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
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
Publication Date: 2020-07
Variant appearance in text: DICER1: 5437G>A; E1813K
The molecular landscape of ETMR at diagnosis and relapse.
Nature
Lambo, Sander S; Gröbner, Susanne N SN; Rausch, Tobias T; Waszak, Sebastian M SM; Schmidt, Christin C; Gorthi, Aparna A; Romero, July Carolina JC; Mauermann, Monika M; Brabetz, Sebastian S; Krausert, Sonja S; Buchhalter, Ivo I; Koster, Jan J; Zwijnenburg, Danny A DA; Sill, Martin M; Hübner, Jens-Martin JM; Mack, Norman N; Schwalm, Benjamin B; Ryzhova, Marina M; Hovestadt, Volker V; Papillon-Cavanagh, Simon S; Chan, Jennifer A JA; Landgraf, Pablo P; Ho, Ben B; Milde, Till T; Witt, Olaf O; Ecker, Jonas J; Sahm, Felix F; Sumerauer, David D; Ellison, David W DW; Orr, Brent A BA; Darabi, Anna A; Haberler, Christine C; Figarella-Branger, Dominique D; Wesseling, Pieter P; Schittenhelm, Jens J; Remke, Marc M; Taylor, Michael D MD; Gil-da-Costa, Maria J MJ; Łastowska, Maria M; Grajkowska, Wiesława W; Hasselblatt, Martin M; Hauser, Peter P; Pietsch, Torsten T; Uro-Coste, Emmanuelle E; Bourdeaut, Franck F; Masliah-Planchon, Julien J; Rigau, Valérie V; Alexandrescu, Sanda S; Wolf, Stephan S; Li, Xiao-Nan XN; Schüller, Ulrich U; Snuderl, Matija M; Karajannis, Matthias A MA; Giangaspero, Felice F; Jabado, Nada N; von Deimling, Andreas A; Jones, David T W DTW; Korbel, Jan O JO; von Hoff, Katja K; Lichter, Peter P; Huang, Annie A; Bishop, Alexander J R AJR; Pfister, Stefan M SM; Korshunov, Andrey A; Kool, Marcel M
Presacral malignant teratoid neoplasm in association with pathogenic DICER1 variation.
Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Nakano, Yoshiko Y; Hasegawa, Daiichiro D; Stewart, Douglas R DR; Schultz, Kris Ann P KAP; Harris, Anne K AK; Hirato, Junko J; Uemura, Suguru S; Tamura, Akihiro A; Saito, Atsuro A; Kawamura, Atsufumi A; Yoshida, Makiko M; Yamasaki, Kai K; Yamashita, Satoshi S; Ushijima, Toshikazu T; Kosaka, Yoshiyuki Y; Ichimura, Koichi K; Dehner, Louis P LP; Hill, D Ashley DA
Publication Date: 2019-12
Variant appearance in text: DICER1: 5437G>A; Glu1813Lys
Primary intracranial sarcomas with DICER1 mutation often contain prominent eosinophilic cytoplasmic globules and can occur in the setting of neurofibromatosis type 1.
Acta Neuropathologica
Lee, Julieann C JC; Villanueva-Meyer, Javier E JE; Ferris, Sean P SP; Sloan, Emily A EA; Hofmann, Jeffrey W JW; Hattab, Eyas M EM; Williams, Brian J BJ; Guo, Hua H; Torkildson, Joseph J; Florez, Adriana A; Van Ziffle, Jessica J; Onodera, Courtney C; Grenert, James P JP; Cho, Soo-Jin SJ; Horvai, Andrew E AE; Jones, David T W DTW; Pfister, Stefan M SM; Koelsche, Christian C; von Deimling, Andreas A; Korshunov, Andrey A; Perry, Arie A; Solomon, David A DA
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
PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.
Plos Computational Biology
Bendl, Jaroslav J; Musil, Miloš M; Štourač, Jan J; Zendulka, Jaroslav J; Damborský, Jiří J; Brezovský, Jan J
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
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
Publication Date: 2014-11
Variant appearance in text: DICER1: 5437G>A; E1813K
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
Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations.
Acta Neuropathologica
de Kock, Leanne L; Sabbaghian, Nelly N; Plourde, François F; Srivastava, Archana A; Weber, Evan E; Bouron-Dal Soglio, Dorothée D; Hamel, Nancy N; Choi, Joon Hyuk JH; Park, Sung-Hye SH; Deal, Cheri L CL; Kelsey, Megan M MM; Dishop, Megan K MK; Esbenshade, Adam A; Kuttesch, John F JF; Jacques, Thomas S TS; Perry, Arie A; Leichter, Heinz H; Maeder, Philippe P; Brundler, Marie-Anne MA; Warner, Justin J; Neal, James J; Zacharin, Margaret M; Korbonits, Márta M; Cole, Trevor T; Traunecker, Heidi H; McLean, Thomas W TW; Rotondo, Fabio F; Lepage, Pierre P; Albrecht, Steffen S; Horvath, Eva E; Kovacs, Kalman K; Priest, John R JR; Foulkes, William D WD
Publication Date: 2014-07
Variant appearance in text: DICER1: 5437G>A; Glu1813Lys
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 mutations in childhood cystic nephroma and its relationship to DICER1-renal sarcoma.
Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Doros, Leslie A LA; Rossi, Christopher T CT; Yang, Jiandong J; Field, Amanda A; Williams, Gretchen M GM; Messinger, Yoav Y; Cajaiba, Mariana M MM; Perlman, Elizabeth J EJ; A Schultz, Kris K; Cathro, Helen P HP; Legallo, Robin D RD; LaFortune, Kristin A KA; Chikwava, Kudakwashe R KR; Faria, Paulo P; Geller, James I JI; Dome, Jeffrey S JS; Mullen, Elizabeth A EA; Gratias, Eric J EJ; Dehner, Louis P LP; Hill, D Ashley DA
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>A; E1813K