SMARCA4 c.4771_4772delinsTA ;(p.R1591*)

Variant ID: 19-11170723-CG-TA

NM_003072.3(SMARCA4):c.4771_4772delinsTA;(p.R1591*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A genetically defined signature of responsiveness to erlotinib in early-stage pancreatic cancer patients: Results from the CONKO-005 trial.

Ebiomedicine
Hoyer, K K; Hablesreiter, R R; Inoue, Y Y; Yoshida, K K; Briest, F F; Christen, F F; Kakiuchi, N N; Yoshizato, T T; Shiozawa, Y Y; Shiraishi, Y Y; Striefler, J K JK; Bischoff, S S; Lohneis, P P; Putter, H H; Blau, O O; Keilholz, U U; Bullinger, L L; Pelzer, U U; Hummel, M M; Riess, H H; Ogawa, S S; Sinn, M M; Damm, F F
Publication Date: 2021-04

Variant appearance in text: SMARCA4: R1591X
PubMed Link: 33862582
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Study of chromatin remodeling genes implicates SMARCA4 as a putative player in oncogenesis in neuroblastoma.

International Journal Of Cancer
Bellini, Angela A; Bessoltane-Bentahar, Nadia N; Bhalshankar, Jaydutt J; Clement, Nathalie N; Raynal, Virginie V; Baulande, Sylvain S; Bernard, Virginie V; Danzon, Adrien A; Chicard, Mathieu M; Colmet-Daage, Léo L; Pierron, Gaelle G; Le Roux, Laura L; Planchon, Julien M JM; Combaret, Valérie V; Lapouble, Eve E; Corradini, Nadège N; Thebaud, Estelle E; Gambart, Marion M; Valteau-Couanet, Dominique D; Michon, Jean J; Louis-Brennetot, Caroline C; Janoueix-Lerosey, Isabelle I; Defachelles, Anne-Sophie AS; Bourdeaut, Franck F; Delattre, Olivier O; Schleiermacher, Gudrun G
Publication Date: 2019-11-15

Variant appearance in text: SMARCA4: R1591X
PubMed Link: 31018240
Variant Present in the following documents:
  • IJC-145-2781-s002.xlsx, sheet 3
View BVdb publication page