DICER1 c.2379T>G ;(p.Y793*)

Variant ID: 14-95574718-A-C

NM_177438.2(DICER1):c.2379T>G;(p.Y793*)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


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: 2379T>G; Tyr793Ter
PubMed Link: 35986592
Variant Present in the following documents:
  • CJP2-8-579.pdf
View BVdb publication page



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: 2379T>G; Tyr793Ter
PubMed Link: 35297207
Variant Present in the following documents:
  • CJP2-8-294-s001.pdf
View BVdb publication page



Case - Bilateral and recurrent pediatric cystic nephroma associated with DICER1 mutation.

Canadian Urological Association Journal = Journal De L'Association Des Urologues Du Canada
Caron, Cindy Pelletier CP; Turcotte, Bruno B; Pelland-Marcotte, Marie-Claude MC; Schultz, Kris Ann P KAP; Harvey, Isabelle I; Bolduc, Stéphane S
Publication Date: 2021-05

Variant appearance in text: DICER1: 2379T>G; Y793X
PubMed Link: 33119505
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: 2379T>G
PubMed Link: 29762508
Variant Present in the following documents:
  • Main text
  • cancers-10-00143.pdf
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: Y793*
PubMed Link: 26628006
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations.

Acta Neuropathologica
de Kock, Leanne L; Sabbaghian, Nelly N; Plourde, François F; Srivastava, Archana A; Weber, Evan E; Bouron-Dal Soglio, Dorothée D; Hamel, Nancy N; Choi, Joon Hyuk JH; Park, Sung-Hye SH; Deal, Cheri L CL; Kelsey, Megan M MM; Dishop, Megan K MK; Esbenshade, Adam A; Kuttesch, John F JF; Jacques, Thomas S TS; Perry, Arie A; Leichter, Heinz H; Maeder, Philippe P; Brundler, Marie-Anne MA; Warner, Justin J; Neal, James J; Zacharin, Margaret M; Korbonits, Márta M; Cole, Trevor T; Traunecker, Heidi H; McLean, Thomas W TW; Rotondo, Fabio F; Lepage, Pierre P; Albrecht, Steffen S; Horvath, Eva E; Kovacs, Kalman K; Priest, John R JR; Foulkes, William D WD
Publication Date: 2014-07

Variant appearance in text: DICER1: 2379T>G; Tyr793*
PubMed Link: 24839956
Variant Present in the following documents:
  • Main text
View BVdb publication page