DICER1 c.1468C>T ;(p.R490C)

Variant ID: 14-95584000-G-A

NM_177438.2(DICER1):c.1468C>T;(p.R490C)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology
Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W
Publication Date: 2022

Variant appearance in text: DICER1: R490C
PubMed Link: 36072793
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page



Genomic Alterations Identification and Resistance Mechanisms Exploration of NSCLC With Central Nervous System Metastases Using Liquid Biopsy of Cerebrospinal Fluid: A Real-World Study.

Frontiers In Oncology
Shen, Fangfang F; Liang, Naixin N; Fan, Zaiwen Z; Zhao, Min M; Kang, Jing J; Wang, Xifang X; Hu, Qun Q; Mu, Yongping Y; Wang, Kai K; Yuan, Mingming M; Chen, Rongrong R; Guo, Wei W; Dong, Guilan G; Zhao, Jun J; Bai, Jun J
Publication Date: 2022

Variant appearance in text: DICER1: 1468C>T; R490C
PubMed Link: 35814426
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 2
View BVdb publication page



Utilizing phenotypic characteristics of metastatic brain tumors to improve the probability of detecting circulating tumor DNA from cerebrospinal fluid in non-small-cell lung cancer patients: development and validation of a prediction model in a prospective cohort study.

Esmo Open
Li, M M; Hou, X X; Zheng, L L; Ma, Y Y; Li, D D; Lv, Y Y; Chen, J J; Zheng, W W; Shao, Y Y; Mou, Y Y; Chen, L L
Publication Date: 2022-02

Variant appearance in text: DICER1: R490C
PubMed Link: 34922300
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
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: 1468C>T; Arg490Cys
PubMed Link: 33630087
Variant Present in the following documents:
  • jamanetwopen-e210112-s001.pdf
View BVdb publication page



Pineoblastoma segregates into molecular sub-groups with distinct clinico-pathologic features: a Rare Brain Tumor Consortium registry study.

Acta Neuropathologica
Li, Bryan K BK; Vasiljevic, Alexandre A; Dufour, Christelle C; Yao, Fupan F; Ho, Ben L B BLB; Lu, Mei M; Hwang, Eugene I EI; Gururangan, Sridharan S; Hansford, Jordan R JR; Fouladi, Maryam M; Nobusawa, Sumihito S; Laquerriere, Annie A; Delisle, Marie-Bernadette MB; Fangusaro, Jason J; Forest, Fabien F; Toledano, Helen H; Solano-Paez, Palma P; Leary, Sarah S; Birks, Diane D; Hoffman, Lindsey M LM; Szathmari, Alexandru A; Faure-Conter, Cécile C; Fan, Xing X; Catchpoole, Daniel D; Zhou, Li L; Schultz, Kris Ann P KAP; Ichimura, Koichi K; Gauchotte, Guillaume G; Jabado, Nada N; Jones, Chris C; Loussouarn, Delphine D; Mokhtari, Karima K; Rousseau, Audrey A; Ziegler, David S DS; Tanaka, Shinya S; Pomeroy, Scott L SL; Gajjar, Amar A; Ramaswamy, Vijay V; Hawkins, Cynthia C; Grundy, Richard G RG; Hill, D Ashley DA; Bouffet, Eric E; Huang, Annie A; Jouvet, Anne A
Publication Date: 2020-02

Variant appearance in text: DICER1: R490C
PubMed Link: 31820118
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: R490C
PubMed Link: 31417090
Variant Present in the following documents:
  • 41467_2019_11610_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page