ARID1A c.4270C>T ;(p.Q1424*)

Variant ID: 1-27100988-C-T

NM_006015.4(ARID1A):c.4270C>T;(p.Q1424*)

This variant was identified in 22 publications

View GRCh38 version.




Publications:


Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature
Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D
Publication Date: 2023-02-08

Variant appearance in text: ARID1A: 4270C>T; Gln1424Ter
PubMed Link: 36755093
Variant Present in the following documents:
  • 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China.

Bmc Medical Genomics
Liu, Jing J; Li, Zirong Z; Lu, Ting T; Pan, Junping J; Li, Li L; Song, Yanwen Y; Hu, Dan D; Zhuo, Yanhong Y; Chen, Ying Y; Xu, Qin Q
Publication Date: 2022-11-04

Variant appearance in text: ARID1A: 4270C>T; Gln1424Ter
PubMed Link: 36333792
Variant Present in the following documents:
  • 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Predictive mutation signature of immunotherapy benefits in NSCLC based on machine learning algorithms.

Frontiers In Immunology
Liu, Zhichao Z; Lin, Guo G; Yan, Zeping Z; Li, Linduo L; Wu, Xingchen X; Shi, Jingrong J; He, Jianxing J; Zhao, Lei L; Liang, Hengrui H; Wang, Wei W
Publication Date: 2022

Variant appearance in text: ARID1A: 4270C>T; Q1424*
PubMed Link: 36238300
Variant Present in the following documents:
  • Table_1.xlsx, sheet 4
View BVdb publication page



EPHA5 mutation was associated with adverse outcome of atezolizumab treatment in late-stage non-small cell lung cancers.

Bmc Pulmonary Medicine
Li, Zhenxiang Z; Zhou, Qing Q; Wang, Qi Q; Wang, Haiyong H; Yue, Weiming W
Publication Date: 2022-09-19

Variant appearance in text: ARID1A: 4270C>T; Q1424*
PubMed Link: 36123678
Variant Present in the following documents:
  • 12890_2022_2161_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Integrated molecular and pharmacological characterization of patient-derived xenografts from bladder and ureteral cancers identifies new potential therapies.

Frontiers In Oncology
Lang, Hervé H; Béraud, Claire C; Cabel, Luc L; Fontugne, Jacqueline J; Lassalle, Myriam M; Krucker, Clémentine C; Dufour, Florent F; Groeneveld, Clarice S CS; Dixon, Victoria V; Meng, Xiangyu X; Kamoun, Aurélie A; Chapeaublanc, Elodie E; De Reynies, Aurélien A; Gamé, Xavier X; Rischmann, Pascal P; Bieche, Ivan I; Masliah-Planchon, Julien J; Beaurepere, Romane R; Allory, Yves Y; Lindner, Véronique V; Misseri, Yolande Y; Radvanyi, François F; Lluel, Philippe P; Bernard-Pierrot, Isabelle I; Massfelder, Thierry T
Publication Date: 2022

Variant appearance in text: ARID1A: 4270C>T; Gln1424Ter
PubMed Link: 36033544
Variant Present in the following documents:
  • Table_4.xlsx, sheet 1
View BVdb publication page



The genetic heterogeneity and drug resistance mechanisms of relapsed refractory multiple myeloma.

Nature Communications
Vo, Josh N JN; Wu, Yi-Mi YM; Mishler, Jeanmarie J; Hall, Sarah S; Mannan, Rahul R; Wang, Lisha L; Ning, Yu Y; Zhou, Jin J; Hopkins, Alexander C AC; Estill, James C JC; Chan, Wallace K B WKB; Yesil, Jennifer J; Cao, Xuhong X; Rao, Arvind A; Tsodikov, Alexander A; Talpaz, Moshe M; Cole, Craig E CE; Ye, Jing C JC; , ; Bergsagel, P Leif PL; Auclair, Daniel D; Cho, Hearn Jay HJ; Robinson, Dan R DR; Chinnaiyan, Arul M AM
Publication Date: 2022-06-29

Variant appearance in text: ARID1A: 4270C>T; Gln1424*
PubMed Link: 35768438
Variant Present in the following documents:
  • 41467_2022_31430_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Integrated profiling of human pancreatic cancer organoids reveals chromatin accessibility features associated with drug sensitivity.

Nature Communications
Shi, Xiaohan X; Li, Yunguang Y; Yuan, Qiuyue Q; Tang, Shijie S; Guo, Shiwei S; Zhang, Yehan Y; He, Juan J; Zhang, Xiaoyu X; Han, Ming M; Liu, Zhuang Z; Zhu, Yiqin Y; Gao, Suizhi S; Wang, Huan H; Xu, Xiongfei X; Zheng, Kailian K; Jing, Wei W; Chen, Luonan L; Wang, Yong Y; Jin, Gang G; Gao, Dong D
Publication Date: 2022-04-21

Variant appearance in text: ARID1A: Q1424X
PubMed Link: 35449156
Variant Present in the following documents:
  • 41467_2022_29857_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Clinical and genomic features of Chinese lung cancer patients with germline mutations.

Nature Communications
Peng, Wenying W; Li, Bin B; Li, Jin J; Chang, Lianpeng L; Bai, Jing J; Yi, Yuting Y; Chen, Rongrong R; Zhang, Yanyan Y; Chen, Chen C; Pu, Xingxiang X; Jiang, Meilin M; Li, Jia J; Zhong, Rui R; Xu, Fang F; Chen, Bolin B; Xu, Li L; Wang, Ning N; Huan, Jiaojiao J; Dai, Pingping P; Guan, Yanfang Y; Yang, Ling L; Xia, Xuefeng X; Yi, Xin X; Wang, Jiayin J; Yu, Fenglei F; Wu, Lin L
Publication Date: 2022-03-10

Variant appearance in text: ARID1A: 4270C>T; Q1424*
PubMed Link: 35273153
Variant Present in the following documents:
  • 41467_2022_28840_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Plasma ctDNA is a tumor tissue surrogate and enables clinical-genomic stratification of metastatic bladder cancer.

Nature Communications
Vandekerkhove, Gillian G; Lavoie, Jean-Michel JM; Annala, Matti M; Murtha, Andrew J AJ; Sundahl, Nora N; Walz, Simon S; Sano, Takeshi T; Taavitsainen, Sinja S; Ritch, Elie E; Fazli, Ladan L; Hurtado-Coll, Antonio A; Wang, Gang G; Nykter, Matti M; Black, Peter C PC; Todenhöfer, Tilman T; Ost, Piet P; Gibb, Ewan A EA; Chi, Kim N KN; Eigl, Bernhard J BJ; Wyatt, Alexander W AW
Publication Date: 2021-01-08

Variant appearance in text: ARID1A: Q1424X
PubMed Link: 33420073
Variant Present in the following documents:
  • 41467_2020_20493_MOESM3_ESM.xlsx, sheet 7
  • 41467_2020_20493_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Acquired mutations and transcriptional remodeling in long-term estrogen-deprived locoregional breast cancer recurrences.

Breast Cancer Research : Bcr
Priedigkeit, Nolan N; Ding, Kai K; Horne, William W; Kolls, Jay K JK; Du, Tian T; Lucas, Peter C PC; Blohmer, Jens-Uwe JU; Denkert, Carsten C; Machleidt, Anna A; Ingold-Heppner, Barbara B; Oesterreich, Steffi S; Lee, Adrian V AV
Publication Date: 2021-01-06

Variant appearance in text: ARID1A: Q1424*
PubMed Link: 33407744
Variant Present in the following documents:
  • Main text
  • 13058_2020_Article_1379.pdf
  • 13058_2020_1379_MOESM2_ESM.xlsx, sheet 6
  • 13058_2020_1379_MOESM2_ESM.xlsx, sheet 5
View BVdb publication page



Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: ARID1A: 4270C>T; Q1424*
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Recurring urothelial carcinomas show genomic rearrangements incompatible with a direct relationship.

Scientific Reports
Marzouka, Nour-Al-Dain NA; Lindgren, David D; Eriksson, Pontus P; Sjödahl, Gottfrid G; Bernardo, Carina C; Liedberg, Fredrik F; Axelson, Håkan H; Höglund, Mattias M
Publication Date: 2020-11-11

Variant appearance in text: ARID1A: 4270C>T; Q1424*
PubMed Link: 33177554
Variant Present in the following documents:
  • 41598_2020_75854_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Genetic markers and phosphoprotein forms of beta-catenin pβ-Cat552 and pβ-Cat675 are prognostic biomarkers of cervical cancer.

Ebiomedicine
Scholl, Suzy M SM; Beal, Jonas J; de Koning, Leanne L; Girard, Elodie E; Popovic, Marina M; de la Rochefordière, Anne A; Lecuru, Fabrice F; Fourchotte, Virginie V; Ngo, Charlotte C; Floquet, Anne A; Berns, Els Mjj EM; Kenter, Gemma G; Gestraud, Pierre P; von der Leyen, Heiko H; Lecerf, Charlotte C; Puard, Vincent V; Roman, Sergio Roman SR; Latouche, Aurelien A; Kereszt, Attila A; Balint, Balazs B; Rouzier, Roman R; Kamal, Maud M
Publication Date: 2020-11

Variant appearance in text: ARID1A: 4270C>T; Q1424X
PubMed Link: 33096476
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: ARID1A: Q1424*
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Pure high-grade papillary urothelial bladder cancer: a luminal-like subgroup with potential for targeted therapy.

Cellular Oncology (Dordrecht)
Schnitzler, Tician T; Ortiz-Brüchle, Nadina N; Schneider, Ursula U; Lurje, Isabella I; Guricova, Karolina K; Buchner, Alexander A; Schulz, Gerald Bastian GB; Heidenreich, Axel A; Gaisa, Nadine Therese NT; Knüchel, Ruth R; Garczyk, Stefan S
Publication Date: 2020-10

Variant appearance in text: ARID1A: 4270C>T; Gln1424Ter
PubMed Link: 32445084
Variant Present in the following documents:
  • 13402_2020_524_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: ARID1A: 4270C>T; Q1424*
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



A model combining clinical and genomic factors to predict response to PD-1/PD-L1 blockade in advanced urothelial carcinoma.

British Journal Of Cancer
Nassar, Amin H AH; Mouw, Kent W KW; Jegede, Opeyemi O; Shinagare, Atul B AB; Kim, Jaegil J; Liu, Chia-Jen CJ; Pomerantz, Mark M; Harshman, Lauren C LC; Van Allen, Eliezer M EM; Wei, Xiao X XX; McGregor, Bradley B; Choudhury, Atish D AD; Preston, Mark A MA; Dong, Fei F; Signoretti, Sabina S; Lindeman, Neal I NI; Bellmunt, Joaquim J; Choueiri, Toni K TK; Sonpavde, Guru G; Kwiatkowski, David J DJ
Publication Date: 2020-02

Variant appearance in text: ARID1A: 4270C>T; Q1424*
PubMed Link: 31857723
Variant Present in the following documents:
  • 41416_2019_686_MOESM1_ESM.xlsx, sheet 5
  • 41416_2019_686_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28

Variant appearance in text: ARID1A: Q1424*
PubMed Link: 31253177
Variant Present in the following documents:
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 22
View BVdb publication page



Implementing a comprehensive translational oncology platform: from molecular testing to actionability.

Journal Of Translational Medicine
Mitri, Zahi I ZI; Parmar, Swapnil S; Johnson, Brett B; Kolodzie, Annette A; Keck, Jamie M JM; Morris, Max M; Guimaraes, Alexander R AR; Beckett, Brooke R BR; Borate, Uma U; Lopez, Charles D CD; Kemmer, Kathleen A KA; Alumkal, Joshi J JJ; Beer, Tomasz M TM; Corless, Christopher L CL; Mills, Gordon B GB; Gray, Joe W JW; Bergan, Raymond C RC
Publication Date: 2018-12-14

Variant appearance in text: ARID1A: Q1424*
PubMed Link: 30551737
Variant Present in the following documents:
  • 12967_2018_1733_MOESM1_ESM.pdf
View BVdb publication page



Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.

Npj Genomic Medicine
Madubata, Chioma J CJ; Roshan-Ghias, Alireza A; Chu, Timothy T; Resnick, Samuel S; Zhao, Junfei J; Arnes, Luis L; Wang, Jiguang J; Rabadan, Raul R
Publication Date: 2017

Variant appearance in text: ARID1A: Q1424*
PubMed Link: 29263839
Variant Present in the following documents:
  • 41525_2017_32_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications
Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ
Publication Date: 2017-08-04

Variant appearance in text: ARID1A: Gln1424Ter
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive Genomic Profiling of Esthesioneuroblastoma Reveals Additional Treatment Options.

The Oncologist
Gay, Laurie M LM; Kim, Sungeun S; Fedorchak, Kyle K; Kundranda, Madappa M; Odia, Yazmin Y; Nangia, Chaitali C; Battiste, James J; Colon-Otero, Gerardo G; Powell, Steven S; Russell, Jeffery J; Elvin, Julia A JA; Vergilio, Jo-Anne JA; Suh, James J; Ali, Siraj M SM; Stephens, Philip J PJ; Miller, Vincent A VA; Ross, Jeffrey S JS
Publication Date: 2017-07

Variant appearance in text: ARID1A: Q1424*
PubMed Link: 28495808
Variant Present in the following documents:
  • Main text
View BVdb publication page