Publications:

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Genetic Basis of ACTH-Secreting Adenomas.

International Journal Of Molecular Sciences

Locantore, Pietro P; Paragliola, Rosa Maria RM; Cera, Gianluca G; Novizio, Roberto R; Maggio, Ettore E; Ramunno, Vittoria V; Corsello, Andrea A; Corsello, Salvatore Maria SM

Publication Date: 2022-06-19

Variant appearance in text: DICER1: R201H

PubMed Link: 35743266

Variant Present in the following documents:

• ijms-23-06824.pdf

View BVdb publication page

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Dissecting Mechanisms of Melanoma Resistance to BRAF and MEK Inhibitors Revealed Genetic and Non-Genetic Patient- and Drug-Specific Alterations and Remarkable Phenotypic Plasticity.

Cells

Hartman, Mariusz L ML; Sztiller-Sikorska, Malgorzata M; Gajos-Michniewicz, Anna A; Czyz, Malgorzata M

Publication Date: 2020-01-07

Variant appearance in text: DICER1: R201H

PubMed Link: 31936151

Variant Present in the following documents:

• cells-09-00142-s001.pdf

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: R201H

PubMed Link: 31417090

Variant Present in the following documents:

• 41467_2019_11610_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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The prevalence of germline DICER1 pathogenic variation in cancer populations.

Molecular Genetics & Genomic Medicine

Kim, Jung J; Schultz, Kris Ann P KAP; Hill, Dana Ashley DA; Stewart, Douglas R DR

Publication Date: 2019-03

Variant appearance in text: DICER1: Arg201His

PubMed Link: 30672147

Variant Present in the following documents:

• Main text
• MGG3-7-na.pdf

View BVdb publication page

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The somatic POLE P286R mutation defines a unique subclass of colorectal cancer featuring hypermutation, representing a potential genomic biomarker for immunotherapy.

Oncotarget

Ahn, Sung-Min SM; Ansari, Adnan Ahmad AA; Kim, Jihun J; Kim, Deokhoon D; Chun, Sung-Min SM; Kim, Jiyun J; Kim, Tae Won TW; Park, Inja I; Yu, Chang-Sik CS; Jang, Se Jin SJ

Publication Date: 2016-10-18

Variant appearance in text: DICER1: R201H

PubMed Link: 27612425

Variant Present in the following documents:

• oncotarget-07-68638-s008.xlsx, sheet 1

View BVdb publication page

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Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity.

Nature Genetics

Dulak, Austin M AM; Stojanov, Petar P; Peng, Shouyong S; Lawrence, Michael S MS; Fox, Cameron C; Stewart, Chip C; Bandla, Santhoshi S; Imamura, Yu Y; Schumacher, Steven E SE; Shefler, Erica E; McKenna, Aaron A; Carter, Scott L SL; Cibulskis, Kristian K; Sivachenko, Andrey A; Saksena, Gordon G; Voet, Douglas D; Ramos, Alex H AH; Auclair, Daniel D; Thompson, Kristin K; Sougnez, Carrie C; Onofrio, Robert C RC; Guiducci, Candace C; Beroukhim, Rameen R; Zhou, Zhongren Z; Lin, Lin L; Lin, Jules J; Reddy, Rishindra R; Chang, Andrew A; Landrenau, Rodney R; Pennathur, Arjun A; Ogino, Shuji S; Luketich, James D JD; Golub, Todd R TR; Gabriel, Stacey B SB; Lander, Eric S ES; Beer, David G DG; Godfrey, Tony E TE; Getz, Gad G; Bass, Adam J AJ

Publication Date: 2013-05

Variant appearance in text: DICER1: 602G>A; R201H

PubMed Link: 23525077

Variant Present in the following documents:

• NIHMS474888-supplement-5.xlsx, sheet 1

View BVdb publication page

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