Publications:

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Recapitulating thyroid cancer histotypes through engineering embryonic stem cells.

Nature Communications

Veschi, Veronica V; Turdo, Alice A; Modica, Chiara C; Verona, Francesco F; Di Franco, Simone S; Gaggianesi, Miriam M; Tirrò, Elena E; Di Bella, Sebastiano S; Iacono, Melania Lo ML; Pantina, Vincenzo Davide VD; Porcelli, Gaetana G; Mangiapane, Laura Rosa LR; Bianca, Paola P; Rizzo, Aroldo A; Sciacca, Elisabetta E; Pillitteri, Irene I; Vella, Veronica V; Belfiore, Antonino A; Bongiorno, Maria Rita MR; Pistone, Giuseppe G; Memeo, Lorenzo L; Colarossi, Lorenzo L; Giuffrida, Dario D; Colarossi, Cristina C; Vigneri, Paolo P; Todaro, Matilde M; Stassi, Giorgio G

Publication Date: 2023-03-11

Variant appearance in text: DICER1: 5438A>G; E1813G

PubMed Link: 36906579

Variant Present in the following documents:

• 41467_2023_36922_MOESM4_ESM.xls, sheet 2

View BVdb publication page

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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

Publication Date: 2023

Variant appearance in text: DICER1: E1813G

PubMed Link: 36896180

Variant Present in the following documents:

• Main text
• fendo-14-1083382.pdf

View BVdb publication page

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A 29-year-old man with a right intracranial mass.

Brain Pathology (Zurich, Switzerland)

Wang, Leiming L; Wei, Yukui Y; Teng, Lianghong L

Publication Date: 2023-01-30

Variant appearance in text: DICER1: 5438A>G; E1813G

PubMed Link: 36715455

Variant Present in the following documents:

• Main text
• BPA-33-e13143.pdf

View BVdb publication page

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Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China.

Bmc Medical Genomics

Liu, Jing J; Li, Zirong Z; Lu, Ting T; Pan, Junping J; Li, Li L; Song, Yanwen Y; Hu, Dan D; Zhuo, Yanhong Y; Chen, Ying Y; Xu, Qin Q

Publication Date: 2022-11-04

Variant appearance in text: DICER1: 5438A>G; E1813G

PubMed Link: 36333792

Variant Present in the following documents:

• 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Primary Intracranial Spindle Cell Sarcoma, DICER1-Mutant, with MDM2 Amplification Diagnosed on the Basis of Extensive Molecular Profiling.

Clinical Medicine Insights. Case Reports

Nejo, Takahide T; Takayanagi, Shunsaku S; Tanaka, Shota S; Shinozaki-Ushiku, Aya A; Kohsaka, Shinji S; Nagata, Keisuke K; Yokoyama, Munehiro M; Sora, Shigeo S; Ushiku, Tetsuo T; Mukasa, Akitake A; Aburatani, Hiroyuki H; Mano, Hiroyuki H; Saito, Nobuhito N

Publication Date: 2022

Variant appearance in text: DICER1: E1813G

PubMed Link: 36277904

Variant Present in the following documents:

• Main text
• 10.1177_11795476221131189.pdf

View BVdb publication page

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Evolution of intra-tumoral heterogeneity across different pathological stages in papillary thyroid carcinoma.

Cancer Cell International

Affinito, Ornella O; Orlandella, Francesca Maria FM; Luciano, Neila N; Salvatore, Marco M; Salvatore, Giuliana G; Franzese, Monica M

Publication Date: 2022-08-22

Variant appearance in text: DICER1: 5438A>G; Glu1813Gly

PubMed Link: 35996174

Variant Present in the following documents:

• 12935_2022_2680_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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PRAME protein expression in DICER1-related tumours.

The Journal Of Pathology. Clinical Research

Thorner, Paul S PS; Chong, Anne-Sophie AS; Nadaf, Javad J; Benlimame, Naciba N; Marrano, Paula P; Chami, Rose R; Fu, Lili L; Foulkes, William D WD

Publication Date: 2022-11

Variant appearance in text: DICER1: 5438A>G; Glu1813Gly

PubMed Link: 35986592

Variant Present in the following documents:

• CJP2-8-579.pdf

View BVdb publication page

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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: 5438A>G; E1813G

PubMed Link: 35679040

Variant Present in the following documents:

• jamaoncol-e221655-s001.pdf

View BVdb publication page

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Designing highly multiplex PCR primer sets with Simulated Annealing Design using Dimer Likelihood Estimation (SADDLE).

Nature Communications

Xie, Nina G NG; Wang, Michael X MX; Song, Ping P; Mao, Shiqi S; Wang, Yifan Y; Yang, Yuxia Y; Luo, Junfeng J; Ren, Shengxiang S; Zhang, David Yu DY

Publication Date: 2022-04-11

Variant appearance in text: DICER1: 5438A>G

PubMed Link: 35410464

Variant Present in the following documents:

• 41467_2022_29500_MOESM5_ESM.xlsx, sheet 8

View BVdb publication page

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PRAME protein expression in DICER1-related tumours.

The Journal Of Pathology. Clinical Research

Thorner, Paul S PS; Chong, Anne-Sophie AS; Nadaf, Javad J; Benlimame, Naciba N; Marrano, Paula P; Chami, Rose R; Fu, Lili L; Foulkes, William D WD

Publication Date: 2022-05

Variant appearance in text: DICER1: 5438A>G; Glu1813Gly

PubMed Link: 35297207

Variant Present in the following documents:

• CJP2-8-294-s001.pdf

View BVdb publication page

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Pregnancy exacerbated lymph node metastasis of well differentiated thyroid carcinoma: A case report.

Medicine

Tu, I-Ju IJ; Huang, Shih-Ming SM; Chen, Ying-Ren YR

Publication Date: 2021-12-23

Variant appearance in text: DICER1: E1813G

PubMed Link: 34941104

Variant Present in the following documents:

• Main text
• medi-100-e28264.pdf

View BVdb publication page

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Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology

Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C

Publication Date: 2021

Variant appearance in text: DICER1: E1813G

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 3

View BVdb publication page

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Novel genetic characteristics in low-grade fetal adenocarcinoma of the lung.

Thoracic Cancer

Zhang, Shuyang S; Yin, Huihui H; Zhang, Jing J; Yang, Lu L; Yang, Guangjian G; Jia, Jia J; Jiao, Yuchen Y; Ying, Jianming J; Wang, Yan Y

Publication Date: 2021-10

Variant appearance in text: DICER1: 5438A>G

PubMed Link: 34464028

Variant Present in the following documents:

• Main text
• TCA-12-2789.pdf

View BVdb publication page

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Improvement of Neoantigen Identification Through Convolution Neural Network.

Frontiers In Immunology

Hao, Qing Q; Wei, Ping P; Shu, Yang Y; Zhang, Yi-Guan YG; Xu, Heng H; Zhao, Jun-Ning JN

Publication Date: 2021

Variant appearance in text: DICER1: E1813G

PubMed Link: 34113354

Variant Present in the following documents:

• Table_1.xlsx, sheet 29

View BVdb publication page

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Spectrum of DICER1 Germline Pathogenic Variants in Ovarian Sertoli-Leydig Cell Tumor.

Journal Of Clinical Medicine

De Paolis, Elisa E; Paragliola, Rosa Maria RM; Concolino, Paola P

Publication Date: 2021-04-23

Variant appearance in text: Dicer: 5438A>G

PubMed Link: 33922805

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinicopathologic and molecular analysis of embryonal rhabdomyosarcoma of the genitourinary tract: evidence for a distinct DICER1-associated subgroup.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Kommoss, Felix K F FKF; Stichel, Damian D; Mora, Jaume J; Esteller, Manel M; Jones, David T W DTW; Pfister, Stefan M SM; Brack, Eva E; Wachtel, Marco M; Bode, Peter Karl PK; Sinn, Hans-Peter HP; Schmidt, Dietmar D; Mentzel, Thomas T; Kommoss, Friedrich F; Sahm, Felix F; von Deimling, Andreas A; Koelsche, Christian C

Publication Date: 2021-08

Variant appearance in text: DICER1: E1813G

PubMed Link: 33846547

Variant Present in the following documents:

• Main text
• 41379_2021_Article_804.pdf

View BVdb publication page

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Analyzing the Role of DICER1 Germline Variations in Papillary Thyroid Carcinoma.

European Thyroid Journal

Canberk, Sule S; Ferreira, Joana C JC; Pereira, Luísa L; Batısta, Rui R; Vieira, Andre F AF; Soares, Paula P; Sobrinho Simões, Manuel M; Máximo, Valdemar V

Publication Date: 2021-02

Variant appearance in text: DICER1: 5438A>G; E1813G

PubMed Link: 33718253

Variant Present in the following documents:

• Main text

View BVdb publication page

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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

Publication Date: 2021-02-27

Variant appearance in text: DICER1: 5438A>G; E1813G

PubMed Link: 33673661

Variant Present in the following documents:

• Main text
• cancers-13-00997.pdf

View BVdb publication page

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Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.

Jama Oncology

Cobain, Erin F EF; Wu, Yi-Mi YM; Vats, Pankaj P; Chugh, Rashmi R; Worden, Francis F; Smith, David C DC; Schuetze, Scott M SM; Zalupski, Mark M MM; Sahai, Vaibhav V; Alva, Ajjai A; Schott, Anne F AF; Caram, Megan E V MEV; Hayes, Daniel F DF; Stoffel, Elena M EM; Jacobs, Michelle F MF; Kumar-Sinha, Chandan C; Cao, Xuhong X; Wang, Rui R; Lucas, David D; Ning, Yu Y; Rabban, Erica E; Bell, Janice J; Camelo-Piragua, Sandra S; Udager, Aaron M AM; Cieslik, Marcin M; Lonigro, Robert J RJ; Kunju, Lakshmi P LP; Robinson, Dan R DR; Talpaz, Moshe M; Chinnaiyan, Arul M AM

Publication Date: 2021-04-01

Variant appearance in text: DICER1: E1813G

PubMed Link: 33630025

Variant Present in the following documents:

• jamaoncol-e207987-s004.xlsx, sheet 2

View BVdb publication page

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Genetic Mutations and Variants in the Susceptibility of Familial Non-Medullary Thyroid Cancer.

Genes

Miasaki, Fabíola Yukiko FY; Fuziwara, Cesar Seigi CS; Carvalho, Gisah Amaral de GA; Kimura, Edna Teruko ET

Publication Date: 2020-11-18

Variant appearance in text: DICER1: 5438A>G

PubMed Link: 33218058

Variant Present in the following documents:

• Main text
• genes-11-01364.pdf

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: DICER1: E1813G

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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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

Publication Date: 2020-12

Variant appearance in text: DICER1: E1813G

PubMed Link: 32507920

Variant Present in the following documents:

• Main text
• 428_2020_Article_2853.pdf

View BVdb publication page

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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

Publication Date: 2020-06

Variant appearance in text: DICER1: E1813G

PubMed Link: 32461694

Variant Present in the following documents:

• NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2

View BVdb publication page

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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: DICER1: 5438A>G; E1813G

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM4_ESM.xlsx, sheet 1
• 42003_2019_736_MOESM10_ESM.xlsx, sheet 1
• 42003_2019_736_MOESM13_ESM.xlsx, sheet 1
• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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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

Publication Date: 2019-12

Variant appearance in text: DICER1: E1813G

PubMed Link: 31802000

Variant Present in the following documents:

• Main text
• nihms-1541318.pdf
• NIHMS1541318-supplement-Supplementary_Table_6.xlsx, sheet 2

View BVdb publication page

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Identification of 12 cancer types through genome deep learning.

Scientific Reports

Sun, Yingshuai Y; Zhu, Sitao S; Ma, Kailong K; Liu, Weiqing W; Yue, Yao Y; Hu, Gang G; Lu, Huifang H; Chen, Wenbin W

Publication Date: 2019-11-21

Variant appearance in text: DICER1: E1813G

PubMed Link: 31754222

Variant Present in the following documents:

• 41598_2019_53989_MOESM4_ESM.xlsx, sheet 11

View BVdb publication page

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Expanding the spectrum of dicer1-associated sarcomas.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Warren, Mikako M; Hiemenz, Matthew C MC; Schmidt, Ryan R; Shows, Jared J; Cotter, Jennifer J; Toll, Stephanie S; Parham, David M DM; Biegel, Jaclyn A JA; Mascarenhas, Leo L; Shah, Rachana R

Publication Date: 2020-01

Variant appearance in text: DICER1: 5438A>G; E1813G

PubMed Link: 31537896

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cancer-associated mutations in DICER1 RNase IIIa and IIIb domains exert similar effects on miRNA biogenesis.

Nature Communications

Vedanayagam, Jeffrey J; Chatila, Walid K WK; Aksoy, Bülent Arman BA; Majumdar, Sonali S; Skanderup, Anders Jacobsen AJ; Demir, Emek E; Schultz, Nikolaus N; Sander, Chris C; Lai, Eric C EC

Publication Date: 2019-08-15

Variant appearance in text: DICER1: E1813G

PubMed Link: 31417090

Variant Present in the following documents:

• Main text
• 41467_2019_11610_MOESM4_ESM.xlsx, sheet 1
• 41467_2019_Article_11610.pdf

View BVdb publication page

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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: E1813G

PubMed Link: 31296931

Variant Present in the following documents:

• Main text

View BVdb publication page

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Hotspot Mutations in DICER1 Causing GLOW Syndrome-Associated Macrocephaly via Modulation of Specific microRNA Populations Result in the Activation of PI3K/ATK/mTOR Signaling.

Microrna (Shariqah, United Arab Emirates)

Klein, Steven D SD; Martinez-Agosto, Julian A JA

Publication Date: 2020

Variant appearance in text: DICER1: 5438A>G

PubMed Link: 31232238

Variant Present in the following documents:

• Main text

View BVdb publication page

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Assessment of risk based on variant pathways and establishment of an artificial neural network model of thyroid cancer.

Bmc Medical Genetics

Zhao, Yinlong Y; Zhao, Lingzhi L; Mao, Tiezhu T; Zhong, Lili L

Publication Date: 2019-05-28

Variant appearance in text: DICER1: E1813G

PubMed Link: 31138213

Variant Present in the following documents:

• 12881_2019_829_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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DICER1 somatic mutations strongly impair miRNA processing even in benign thyroid lesions.

Oncotarget

Poma, Anello Marcello AM; Condello, Vincenzo V; Denaro, Maria M; Torregrossa, Liborio L; Elisei, Rossella R; Vitti, Paolo P; Basolo, Fulvio F

Publication Date: 2019-03-05

Variant appearance in text: DICER1: E1813G

PubMed Link: 30956758

Variant Present in the following documents:

• Main text
• oncotarget-10-1785.pdf

View BVdb publication page

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Analysis of error profiles in deep next-generation sequencing data.

Genome Biology

Ma, Xiaotu X; Shao, Ying Y; Tian, Liqing L; Flasch, Diane A DA; Mulder, Heather L HL; Edmonson, Michael N MN; Liu, Yu Y; Chen, Xiang X; Newman, Scott S; Nakitandwe, Joy J; Li, Yongjin Y; Li, Benshang B; Shen, Shuhong S; Wang, Zhaoming Z; Shurtleff, Sheila S; Robison, Leslie L LL; Levy, Shawn S; Easton, John J; Zhang, Jinghui J

Publication Date: 2019-03-14

Variant appearance in text: DICER1: E1813G

PubMed Link: 30867008

Variant Present in the following documents:

• 13059_2019_1659_MOESM1_ESM.xlsx, sheet 7

View BVdb publication page

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Clinical relevance of screening checklists for detecting cancer predisposition syndromes in Asian childhood tumours.

Npj Genomic Medicine

Chan, Sock Hoai SH; Chew, Winston W; Ishak, Nur Diana Binte NDB; Lim, Weng Khong WK; Li, Shao-Tzu ST; Tan, Sheng Hui SH; Teo, Jing Xian JX; Shaw, Tarryn T; Chang, Kenneth K; Chen, Yong Y; Iyer, Prasad P; Tan, Enrica Ee Kar EEK; Seng, Michaela Su-Fern MS; Chan, Mei Yoke MY; Tan, Ah Moy AM; Low, Sharon Yin Yee SYY; Soh, Shui Yen SY; Loh, Amos Hong Pheng AHP; Ngeow, Joanne J

Publication Date: 2018

Variant appearance in text: DICER1: Glu1813Gly

PubMed Link: 30455982

Variant Present in the following documents:

• Main text
• 41525_2018_Article_70.pdf

View BVdb publication page

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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

Publication Date: 2018-09-10

Variant appearance in text: DICER1: E1813G

PubMed Link: 30202034

Variant Present in the following documents:

• 41598_2018_31659_MOESM2_ESM.xlsx, sheet 30

View BVdb publication page

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DICER1 Syndrome: DICER1 Mutations in Rare Cancers.

Cancers

Robertson, Jake C JC; Jorcyk, Cheryl L CL; Oxford, Julia Thom JT

Publication Date: 2018-05-15

Variant appearance in text: DICER1: E1813G

PubMed Link: 29762508

Variant Present in the following documents:

• Main text
• cancers-10-00143.pdf

View BVdb publication page

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Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

The Journal Of Pathology

Temko, Daniel D; Van Gool, Inge C IC; Rayner, Emily E; Glaire, Mark M; Makino, Seiko S; Brown, Matthew M; Chegwidden, Laura L; Palles, Claire C; Depreeuw, Jeroen J; Beggs, Andrew A; Stathopoulou, Chaido C; Mason, John J; Baker, Ann-Marie AM; Williams, Marc M; Cerundolo, Vincenzo V; Rei, Margarida M; Taylor, Jenny C JC; Schuh, Anna A; Ahmed, Ahmed A; Amant, Frédéric F; Lambrechts, Diether D; Smit, Vincent Thbm VT; Bosse, Tjalling T; Graham, Trevor A TA; Church, David N DN; Tomlinson, Ian I

Publication Date: 2018-07

Variant appearance in text: DICER1: 5438A>G; E1813G

PubMed Link: 29604063

Variant Present in the following documents:

• PATH-245-283-s021.xlsx, sheet 1

View BVdb publication page

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Genomics of a pediatric ovarian fibrosarcoma. Association with the DICER1 syndrome.

Scientific Reports

Melendez-Zajgla, Jorge J; Mercado-Celis, Gabriela E GE; Gaytan-Cervantes, Javier J; Torres, Amada A; Gabiño, Nayeli Belem NB; Zapata-Tarres, Martha M; Juarez-Villegas, Luis Enrique LE; Lezama, Pablo P; Maldonado, Vilma V; Ruiz-Monroy, Karen K; Mendoza-Caamal, Elvia E

Publication Date: 2018-02-19

Variant appearance in text: DICER1: E1813G

PubMed Link: 29459759

Variant Present in the following documents:

• Main text
• 41598_2018_Article_21663.pdf

View BVdb publication page

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Role of Dicer1 in thyroid cell proliferation and differentiation.

Cell Cycle (Georgetown, Tex.)

Penha, Ricardo Cortez Cardoso RCC; Sepe, Romina R; De Martino, Marco M; Esposito, Francesco F; Pellecchia, Simona S; Raia, Maddalena M; Del Vecchio, Luigi L; Decaussin-Petrucci, Myriam M; De Vita, Gabriella G; Pinto, Luis Felipe Ribeiro LFR; Fusco, Alfredo A

Publication Date: 2017

Variant appearance in text: DICER1: 5438A>G; E1813G

PubMed Link: 28933615

Variant Present in the following documents:

• Main text

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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

Publication Date: 2017-06-06

Variant appearance in text: DICER1: E1813G

PubMed Link: 28524158

Variant Present in the following documents:

• Main text
• bjc2017147a.pdf

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Longitudinal analysis of treatment-induced genomic alterations in gliomas.

Genome Medicine

Erson-Omay, E Zeynep EZ; Henegariu, Octavian O; Omay, S Bülent SB; Harmancı, Akdes Serin AS; Youngblood, Mark W MW; Mishra-Gorur, Ketu K; Li, Jie J; Özduman, Koray K; Carrión-Grant, Geneive G; Clark, Victoria E VE; Çağlar, Caner C; Bakırcıoğlu, Mehmet M; Pamir, M Necmettin MN; Tabar, Viviane V; Vortmeyer, Alexander O AO; Bilguvar, Kaya K; Yasuno, Katsuhito K; DeAngelis, Lisa M LM; Baehring, Joachim M JM; Moliterno, Jennifer J; Günel, Murat M

Publication Date: 2017-02-02

Variant appearance in text: DICER1: E1813G

PubMed Link: 28153049

Variant Present in the following documents:

• 13073_2017_401_MOESM3_ESM.xlsx, sheet 2

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Implementation of next generation sequencing into pediatric hematology-oncology practice: moving beyond actionable alterations.

Genome Medicine

Oberg, Jennifer A JA; Glade Bender, Julia L JL; Sulis, Maria Luisa ML; Pendrick, Danielle D; Sireci, Anthony N AN; Hsiao, Susan J SJ; Turk, Andrew T AT; Dela Cruz, Filemon S FS; Hibshoosh, Hanina H; Remotti, Helen H; Zylber, Rebecca J RJ; Pang, Jiuhong J; Diolaiti, Daniel D; Koval, Carrie C; Andrews, Stuart J SJ; Garvin, James H JH; Yamashiro, Darrell J DJ; Chung, Wendy K WK; Emerson, Stephen G SG; Nagy, Peter L PL; Mansukhani, Mahesh M MM; Kung, Andrew L AL

Publication Date: 2016-12-23

Variant appearance in text: DICER1: 5438A>G; E1813G

PubMed Link: 28007021

Variant Present in the following documents:

• Main text
• 13073_2016_Article_389.pdf

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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

Publication Date: 2016-08

Variant appearance in text: DICER1: E1813G

PubMed Link: 27494611

Variant Present in the following documents:

• Main text
• pgen.1006239.s002.pdf
• pgen.1006239.pdf
• pgen.1006239.s001.pdf

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Dysregulation of microRNA biogenesis machinery in cancer.

Critical Reviews In Biochemistry And Molecular Biology

Hata, Akiko A; Kashima, Risa R

Publication Date: 2016

Variant appearance in text: Dicer: E1813G

PubMed Link: 26628006

Variant Present in the following documents:

• Main text

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The "next-generation" knowledge of papillary thyroid carcinoma.

Cell Cycle (Georgetown, Tex.)

Costa, Valerio V; Esposito, Roberta R; Pallante, Pierlorenzo P; Ciccodicola, Alfredo A; Fusco, Alfredo A

Publication Date: 2015

Variant appearance in text: DICER1: E1813G

PubMed Link: 26030480

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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

Publication Date: 2015-05-19

Variant appearance in text: DICER1: E1813G

PubMed Link: 25883138

Variant Present in the following documents:

• supp_gkv328_nar-03037-survey-d-2014-File005.pdf

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