SMARCA4 c.4861C>T ;(p.R1621*)

Variant ID: 19-11170813-C-T

NM_003072.3(SMARCA4):c.4861C>T;(p.R1621*)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Molecular landscape and therapeutic alterations in Asian soft-tissue sarcoma patients.

Cancer Medicine
Gan, Meifu M; Zhang, Chen C; Qiu, Liqing L; Wang, Yue Y; Bao, Hua H; Yu, Ruoying R; Liu, Rui R; Wu, Xue X; Shao, Yang Y; Hou, Peifeng P; Fei, Zhenglei Z
Publication Date: 2022-11

Variant appearance in text: SMARCA4: 4861C>T; R1621*
PubMed Link: 35586877
Variant Present in the following documents:
  • CAM4-11-4070-s004.xlsx, sheet 1
View BVdb publication page



Genomic clonal evolution correlated with phenotype and prognosis in gastric cancer.

Clinical And Translational Medicine
Ge, Jie J; Li, Xuan X; Deng, Zhenghao Z; Gao, Xuan X; Liu, Yaoyao Y; Xiong, Xingui X; Zhao, Xianhui X; Peng, Huan H; Yi, Xin X; Xia, Xuefeng X; Chen, Zihua Z; Li, Lifeng L; Zhou, Haiyan H; Liu, Heli H
Publication Date: 2022-04

Variant appearance in text: SMARCA4: 4861C>T; R1621*
PubMed Link: 35384329
Variant Present in the following documents:
  • CTM2-12-e799-s006.xlsx, sheet 2
View BVdb publication page



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: R1621X
PubMed Link: 33862582
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Integrated digital pathology and transcriptome analysis identifies molecular mediators of T-cell exclusion in ovarian cancer.

Nature Communications
Desbois, Mélanie M; Udyavar, Akshata R AR; Ryner, Lisa L; Kozlowski, Cleopatra C; Guan, Yinghui Y; Dürrbaum, Milena M; Lu, Shan S; Fortin, Jean-Philippe JP; Koeppen, Hartmut H; Ziai, James J; Chang, Ching-Wei CW; Keerthivasan, Shilpa S; Plante, Marie M; Bourgon, Richard R; Bais, Carlos C; Hegde, Priti P; Daemen, Anneleen A; Turley, Shannon S; Wang, Yulei Y
Publication Date: 2020-11-04

Variant appearance in text: SMARCA4: Arg1621Ter
PubMed Link: 33149148
Variant Present in the following documents:
  • 41467_2020_19408_MOESM8_ESM.xlsx, sheet 10
View BVdb publication page



Functional characterization of SMARCA4 variants identified by targeted exome-sequencing of 131,668 cancer patients.

Nature Communications
Fernando, Tharu M TM; Piskol, Robert R; Bainer, Russell R; Sokol, Ethan S ES; Trabucco, Sally E SE; Zhang, Qing Q; Trinh, Huong H; Maund, Sophia S; Kschonsak, Marc M; Chaudhuri, Subhra S; Modrusan, Zora Z; Januario, Thomas T; Yauch, Robert L RL
Publication Date: 2020-11-03

Variant appearance in text: SMARCA4: R1621*
PubMed Link: 33144586
Variant Present in the following documents:
  • 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1
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: R1621X; rs955207258
PubMed Link: 31018240
Variant Present in the following documents:
  • IJC-145-2781-s002.xlsx, sheet 3
View BVdb publication page



A network flow-based method to predict anticancer drug sensitivity.

Plos One
Qin, Yufang Y; Chen, Ming M; Wang, Haiyun H; Zheng, Xiaoqi X
Publication Date: 2015

Variant appearance in text: SMARCA4: R1621*
PubMed Link: 25992881
Variant Present in the following documents:
  • pone.0127380.s002.xlsx, sheet 1
View BVdb publication page



Systematic identification of genomic markers of drug sensitivity in cancer cells.

Nature
Garnett, Mathew J MJ; Edelman, Elena J EJ; Heidorn, Sonja J SJ; Greenman, Chris D CD; Dastur, Anahita A; Lau, King Wai KW; Greninger, Patricia P; Thompson, I Richard IR; Luo, Xi X; Soares, Jorge J; Liu, Qingsong Q; Iorio, Francesco F; Surdez, Didier D; Chen, Li L; Milano, Randy J RJ; Bignell, Graham R GR; Tam, Ah T AT; Davies, Helen H; Stevenson, Jesse A JA; Barthorpe, Syd S; Lutz, Stephen R SR; Kogera, Fiona F; Lawrence, Karl K; McLaren-Douglas, Anne A; Mitropoulos, Xeni X; Mironenko, Tatiana T; Thi, Helen H; Richardson, Laura L; Zhou, Wenjun W; Jewitt, Frances F; Zhang, Tinghu T; O'Brien, Patrick P; Boisvert, Jessica L JL; Price, Stacey S; Hur, Wooyoung W; Yang, Wanjuan W; Deng, Xianming X; Butler, Adam A; Choi, Hwan Geun HG; Chang, Jae Won JW; Baselga, Jose J; Stamenkovic, Ivan I; Engelman, Jeffrey A JA; Sharma, Sreenath V SV; Delattre, Olivier O; Saez-Rodriguez, Julio J; Gray, Nathanael S NS; Settleman, Jeffrey J; Futreal, P Andrew PA; Haber, Daniel A DA; Stratton, Michael R MR; Ramaswamy, Sridhar S; McDermott, Ultan U; Benes, Cyril H CH
Publication Date: 2012-03-28

Variant appearance in text: SMARCA4: R1621*
PubMed Link: 22460902
Variant Present in the following documents:
  • NIHMS47188-supplement-supp_data.xlsx, sheet 2
View BVdb publication page