DICER1 c.5127T>A ;(p.D1709E)

Variant ID: 14-95560462-A-T

NM_177438.2(DICER1):c.5127T>A;(p.D1709E)

This variant was identified in 16 publications

View GRCh38 version.




Publications:


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: D1709E
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



Next-Generation Sequencing Enhances the Diagnosis Efficiency in Thyroid Nodules.

Frontiers In Oncology
Tan, Li-Cheng LC; Liu, Wan-Lin WL; Zhu, Xiao-Li XL; Yu, Peng-Cheng PC; Shi, Xiao X; Han, Pei-Zhen PZ; Zhang, Ling L; Lin, Liang-Yu LY; Semenov, Arseny A; Wang, Yu Y; Ji, Qing-Hai QH; Ji, Dong-Mei DM; Wang, Yu-Long YL; Qu, Ning N
Publication Date: 2021

Variant appearance in text: DICER1: Asp1709Glu
PubMed Link: 34322384
Variant Present in the following documents:
  • Main text
  • fonc-11-677892.pdf
View BVdb publication page



A Genome-First Approach to Characterize DICER1 Pathogenic Variant Prevalence, Penetrance, and Phenotype.

Jama Network Open
Mirshahi, Uyenlinh L UL; Kim, Jung J; Best, Ana F AF; Chen, Zongming E ZE; Hu, Ying Y; Haley, Jeremy S JS; Golden, Alicia A; Stahl, Richard R; Manickam, Kandamurugu K; Carr, Ann G AG; Harney, Laura A LA; Field, Amanda A; Hatton, Jessica J; Schultz, Kris Ann P KAP; Bauer, Andrew J AJ; Hill, D Ashley DA; Rosenberg, Philip S PS; Murray, Michael F MF; Carey, David J DJ; Stewart, Douglas R DR
Publication Date: 2021-02-01

Variant appearance in text: DICER1: 5127T>A; Asp1709Glu
PubMed Link: 33630087
Variant Present in the following documents:
  • Main text
  • jamanetwopen-e210112-s001.pdf
View BVdb publication page



Coexistence of Low-Grade Fetal Adenocarcinoma and Adenocarcinoma in situ of the Lung Harboring Different Genetic Mutations: A Case Report and Review of Literature.

Oncotargets And Therapy
Liu, Shuli S; Wang, Jinping J; Luo, Xue X; Li, Xiaoman X; Miao, Yuan Y; Wang, Liang L; Li, Qingchang Q; Qiu, Xueshan X; Wang, En-Hua EH
Publication Date: 2020

Variant appearance in text: DICER1: 5127T>A
PubMed Link: 32753900
Variant Present in the following documents:
  • Main text
  • ott-13-6675.pdf
View BVdb publication page



Patient specific circulating tumor DNA fingerprints to monitor treatment response across multiple tumors.

Journal Of Translational Medicine
Li, Jiaping J; Jiang, Wei W; Wei, Jinwang J; Zhang, Jianwei J; Cai, Linbo L; Luo, Minjie M; Wang, Zhan Z; Sun, Wending W; Wang, Shengzhou S; Wang, Chen C; Dai, Chun C; Liu, Jun J; Wang, Guan G; Wang, Jiping J; Xu, Qiang Q; Deng, Yanhong Y
Publication Date: 2020-08-01

Variant appearance in text: DICER1: D1709E
PubMed Link: 32738923
Variant Present in the following documents:
  • 12967_2020_2449_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: DICER1: D1709E
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



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: D1709E
PubMed Link: 31296931
Variant Present in the following documents:
  • Main text
  • nihms-1531726.pdf
View BVdb publication page



Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Plos Computational Biology
Brown, Anna-Leigh AL; Li, Minghui M; Goncearenco, Alexander A; Panchenko, Anna R AR
Publication Date: 2019-04

Variant appearance in text: DICER1: D1709E
PubMed Link: 31034466
Variant Present in the following documents:
  • pcbi.1006981.s010.xlsx, sheet 1
View BVdb publication page



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
Publication Date: 2016-05

Variant appearance in text: DICER1: D1709E
PubMed Link: 27224906
Variant Present in the following documents:
  • pcbi.1004962.s005.xlsx, sheet 3
View BVdb publication page



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: D1709E
PubMed Link: 26628006
Variant Present in the following documents:
  • Main text
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: DICER1: D1709E
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page



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: D1709E
PubMed Link: 25883138
Variant Present in the following documents:
  • supp_gkv328_nar-03037-survey-d-2014-File005.pdf
View BVdb publication page



Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.

Genome Biology
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
Publication Date: 2014-10-28

Variant appearance in text: DICER1: D1709E
PubMed Link: 25348012
Variant Present in the following documents:
  • 13059_2014_484_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



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
Publication Date: 2014-05

Variant appearance in text: DICER1: 5127T>A
PubMed Link: 24676357
Variant Present in the following documents:
  • Main text
View BVdb publication page



DICER1 RNase IIIb domain mutations are infrequent in testicular germ cell tumours.

Bmc Research Notes
de Boer, Carmela M CM; Eini, Ronak R; Gillis, Ad M AM; Stoop, Hans H; Looijenga, Leendert H J LH; White, Stefan J SJ
Publication Date: 2012-10-15

Variant appearance in text: DICER1: 5127T>A
PubMed Link: 23068969
Variant Present in the following documents:
  • Main text
  • 1756-0500-5-569.pdf
View BVdb publication page