DICER1 c.1507G>T ;(p.E503*)

Variant ID: 14-95583961-C-A

NM_177438.2(DICER1):c.1507G>T;(p.E503*)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


KRAS Hijacks the MicroRNA Regulatory Pathway in Cancer.

Cancer Research
Bortoletto, Angelina S AS; Parchem, Ronald J RJ
Publication Date: 2023-03-22

Variant appearance in text: DICER1: E503X
PubMed Link: 36946612
Variant Present in the following documents:
  • Main text
  • 1563.pdf
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: DICER1: 1507G>T; Glu503Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



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: DICER1: 1507G>T
PubMed Link: 33922805
Variant Present in the following documents:
  • Main text
View BVdb publication page



DICER1 Syndrome: Characterization of the Ocular Phenotype in a Family-Based Cohort Study.

Ophthalmology
Huryn, Laryssa A LA; Turriff, Amy A; Harney, Laura A LA; Carr, Ann Garrity AG; Chevez-Barrios, Patricia P; Gombos, Dan S DS; Ram, Radha R; Hufnagel, Robert B RB; Hill, D Ashley DA; Zein, Wadih M WM; Schultz, Kris Ann P KAP; Bishop, Rachel R; Stewart, Douglas R DR
Publication Date: 2019-02

Variant appearance in text: DICER1: 1507G>T
PubMed Link: 30339877
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 1507G>T
PubMed Link: 29762508
Variant Present in the following documents:
  • Main text
  • cancers-10-00143.pdf
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: DICER1: 1507G>T; Glu503Ter
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
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: E503*
PubMed Link: 26628006
Variant Present in the following documents:
  • Main text
View BVdb publication page



A novel DICER1 mutation identified in a female with ovarian Sertoli-Leydig cell tumor and multinodular goiter: a case report.

Journal Of Medical Case Reports
Rossing, Maria M; Gerdes, Anne-Marie AM; Juul, Anders A; Rechnitzer, Catherine C; Rudnicki, Martin M; Nielsen, Finn C FC; Vo Hansen, Thomas T
Publication Date: 2014-04-03

Variant appearance in text: DICER1: 1507G>T; Glu503*
PubMed Link: 24708902
Variant Present in the following documents:
  • Main text
  • 1752-1947-8-112.pdf
View BVdb publication page



Ovarian sex cord-stromal tumors, pleuropulmonary blastoma and DICER1 mutations: a report from the International Pleuropulmonary Blastoma Registry.

Gynecologic Oncology
Schultz, Kris Ann P KA; Pacheco, M Cristina MC; Yang, Jiandong J; Williams, Gretchen M GM; Messinger, Yoav Y; Hill, D Ashley DA; Dehner, Louis P LP; Priest, John R JR
Publication Date: 2011-08

Variant appearance in text: DICER1: 1507G>T; E503X
PubMed Link: 21501861
Variant Present in the following documents:
  • Main text
View BVdb publication page