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: SMARCA4: 3565C>T; Arg1189Ter
Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.
Nature Communications
Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX
Genetic Landscape of Relapsed and Refractory Diffuse Large B-Cell Lymphoma: A Systemic Review and Association Analysis With Next-Generation Sequencing.
Frontiers In Genetics
Gao, Fan F; Tian, Lei L; Shi, Hui H; Zheng, Peihao P; Wang, Jing J; Dong, Fei F; Hu, Kai K; Ke, Xiaoyan X
Publication Date: 2021
Variant appearance in text: SMARCA4: 3565C>T; R1189X
Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.
Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Atypical teratoid/rhabdoid tumors (ATRTs) with SMARCA4 mutation are molecularly distinct from SMARCB1-deficient cases.
Acta Neuropathologica
Holdhof, Dörthe D; Johann, Pascal D PD; Spohn, Michael M; Bockmayr, Michael M; Safaei, Sepehr S; Joshi, Piyush P; Masliah-Planchon, Julien J; Ho, Ben B; Andrianteranagna, Mamy M; Bourdeaut, Franck F; Huang, Annie A; Kool, Marcel M; Upadhyaya, Santhosh A SA; Bendel, Anne E AE; Indenbirken, Daniela D; Foulkes, William D WD; Bush, Jonathan W JW; Creytens, David D; Kordes, Uwe U; Frühwald, Michael C MC; Hasselblatt, Martin M; Schüller, Ulrich U
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
Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.
Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Clinical utility of custom-designed NGS panel testing in pediatric tumors.
Genome Medicine
Surrey, Lea F LF; MacFarland, Suzanne P SP; Chang, Fengqi F; Cao, Kajia K; Rathi, Komal S KS; Akgumus, Gozde T GT; Gallo, Daniel D; Lin, Fumin F; Gleason, Adam A; Raman, Pichai P; Aplenc, Richard R; Bagatell, Rochelle R; Minturn, Jane J; Mosse, Yael Y; Santi, Mariarita M; Tasian, Sarah K SK; Waanders, Angela J AJ; Sarmady, Mahdi M; Maris, John M JM; Hunger, Stephen P SP; Li, Marilyn M MM
Publication Date: 2019-05-28
Variant appearance in text: SMARCA4: 3565C>T; R1189*
Loss of the tumor suppressor SMARCA4 in small cell carcinoma of the ovary, hypercalcemic type (SCCOHT).
Rare Diseases (Austin, Tex.)
Ramos, Pilar P; Karnezis, Anthony N AN; Hendricks, William P D WP; Wang, Yemin Y; Tembe, Waibhav W; Zismann, Victoria L VL; Legendre, Christophe C; Liang, Winnie S WS; Russell, Megan L ML; Craig, David W DW; Farley, John H JH; Monk, Bradley J BJ; Anthony, Stephen P SP; Sekulic, Aleksandar A; Cunliffe, Heather E HE; Huntsman, David G DG; Trent, Jeffrey M JM
Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4.
Nature Genetics
Ramos, Pilar P; Karnezis, Anthony N AN; Craig, David W DW; Sekulic, Aleksandar A; Russell, Megan L ML; Hendricks, William P D WP; Corneveaux, Jason J JJ; Barrett, Michael T MT; Shumansky, Karey K; Yang, Yidong Y; Shah, Sohrab P SP; Prentice, Leah M LM; Marra, Marco A MA; Kiefer, Jeffrey J; Zismann, Victoria L VL; McEachron, Troy A TA; Salhia, Bodour B; Prat, Jaime J; D'Angelo, Emanuela E; Clarke, Blaise A BA; Pressey, Joseph G JG; Farley, John H JH; Anthony, Stephen P SP; Roden, Richard B S RB; Cunliffe, Heather E HE; Huntsman, David G DG; Trent, Jeffrey M JM
Publication Date: 2014-05
Variant appearance in text: SMARCA4: 3565C>T; Arg1189*
Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome.
American Journal Of Human Genetics
Schneppenheim, Reinhard R; Frühwald, Michael C MC; Gesk, Stefan S; Hasselblatt, Martin M; Jeibmann, Astrid A; Kordes, Uwe U; Kreuz, Markus M; Leuschner, Ivo I; Martin Subero, Jose Ignacio JI; Obser, Tobias T; Oyen, Florian F; Vater, Inga I; Siebert, Reiner R