DICER1 c.3019C>T ;(p.Q1007*)

Variant ID: 14-95572089-G-A

NM_177438.2(DICER1):c.3019C>T;(p.Q1007*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Tracking early lung cancer metastatic dissemination in TRACERx using ctDNA.

Nature
Abbosh, Christopher C; Frankell, Alexander M AM; Harrison, Thomas T; Kisistok, Judit J; Garnett, Aaron A; Johnson, Laura L; Veeriah, Selvaraju S; Moreau, Mike M; Chesh, Adrian A; Chaunzwa, Tafadzwa L TL; Weiss, Jakob J; Schroeder, Morgan R MR; Ward, Sophia S; Grigoriadis, Kristiana K; Shahpurwalla, Aamir A; Litchfield, Kevin K; Puttick, Clare C; Biswas, Dhruva D; Karasaki, Takahiro T; Black, James R M JRM; Martínez-Ruiz, Carlos C; Bakir, Maise Al MA; Pich, Oriol O; Watkins, Thomas B K TBK; Lim, Emilia L EL; Huebner, Ariana A; Moore, David A DA; Godin-Heymann, Nadia N; L'Hernault, Anne A; Bye, Hannah H; Odell, Aaron A; Roberts, Paula P; Gomes, Fabio F; Patel, Akshay J AJ; Manzano, Elizabeth E; Hiley, Crispin T CT; Carey, Nicolas N; Riley, Joan J; Cook, Daniel E DE; Hodgson, Darren D; Stetson, Daniel D; Barrett, J Carl JC; Kortlever, Roderik M RM; Evan, Gerard I GI; Hackshaw, Allan A; Daber, Robert D RD; Shaw, Jacqui A JA; Aerts, Hugo J W L HJWL; Licon, Abel A; Stahl, Josh J; Jamal-Hanjani, Mariam M; , ; Birkbak, Nicolai J NJ; McGranahan, Nicholas N; Swanton, Charles C
Publication Date: 2023-04-13

Variant appearance in text: DICER1: Q1007X
PubMed Link: 37055640
Variant Present in the following documents:
  • EMS176197-supplement-Supplementary_Table_1.xlsx, sheet 18
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: 3019C>T; Gln1007Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
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: 3019C>T
PubMed Link: 29762508
Variant Present in the following documents:
  • Main text
  • cancers-10-00143.pdf
View BVdb publication page



Nasal chondromesenchymal hamartomas arise secondary to germline and somatic mutations of DICER1 in the pleuropulmonary blastoma tumor predisposition disorder.

Human Genetics
Stewart, Douglas R DR; Messinger, Yoav Y; Williams, Gretchen M GM; Yang, Jiandong J; Field, Amanda A; Schultz, Kris Ann P KA; Harney, Laura A LA; Doros, Leslie A LA; Dehner, Louis P LP; Hill, D Ashley DA
Publication Date: 2014-11

Variant appearance in text: DICER1: 3019C>T; Q1007X
PubMed Link: 25118636
Variant Present in the following documents:
  • Main text
View BVdb publication page