DICER1 c.5199_5200insT ;(p.D1734*)

Variant ID: 14-95560389-C-CA

NM_177438.2(DICER1):c.5199_5200insT;(p.D1734*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Recurrent KBTBD4 small in-frame insertions and absence of DROSHA deletion or DICER1 mutation differentiate pineal parenchymal tumor of intermediate differentiation (PPTID) from pineoblastoma.

Acta Neuropathologica
Lee, Julieann C JC; Mazor, Tali T; Lao, Richard R; Wan, Eunice E; Diallo, Alpha B AB; Hill, Nicholas S NS; Thangaraj, Naina N; Wendelsdorf, Katherine K; Samuel, David D; Kline, Cassie N CN; Banerjee, Anuradha A; Auguste, Kurtis K; Raffel, Corey C; Gupta, Nalin N; Berger, Mitchel M; Raleigh, David R DR; Shai, Anny A; Phillips, Joanna J JJ; Bollen, Andrew W AW; Tihan, Tarik T; Perry, Arie A; Costello, Joseph J; Solomon, David A DA
Publication Date: 2019-05

Variant appearance in text: DICER1: D1734fs
PubMed Link: 30877433
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.

Cancer Cell
Hellmann, Matthew D MD; Nathanson, Tavi T; Rizvi, Hira H; Creelan, Benjamin C BC; Sanchez-Vega, Francisco F; Ahuja, Arun A; Ni, Ai A; Novik, Jacki B JB; Mangarin, Levi M B LMB; Abu-Akeel, Mohsen M; Liu, Cailian C; Sauter, Jennifer L JL; Rekhtman, Natasha N; Chang, Eliza E; Callahan, Margaret K MK; Chaft, Jamie E JE; Voss, Martin H MH; Tenet, Megan M; Li, Xue-Mei XM; Covello, Kelly K; Renninger, Andrea A; Vitazka, Patrik P; Geese, William J WJ; Borghaei, Hossein H; Rudin, Charles M CM; Antonia, Scott J SJ; Swanton, Charles C; Hammerbacher, Jeff J; Merghoub, Taha T; McGranahan, Nicholas N; Snyder, Alexandra A; Wolchok, Jedd D JD
Publication Date: 2018-05-14

Variant appearance in text: DICER1: D1734fs
PubMed Link: 29657128
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page