ARID1A c.1612C>T ;(p.Q538*)

Variant ID: 1-27057904-C-T

NM_006015.4(ARID1A):c.1612C>T;(p.Q538*)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Uterine lavage identifies cancer mutations and increased TP53 somatic mutation burden in individuals with ovarian cancer.

Cancer Research Communications
Ghezelayagh, Talayeh S TS; Kohrn, Brendan F BF; Fredrickson, Jeanne J; Manhardt, Enna E; Radke, Marc R MR; Katz, Ronit R; Gray, Heidi J HJ; Urban, Renata R RR; Pennington, Kathryn P KP; Liao, John B JB; Doll, Kemi M KM; Simons, Elise J EJ; Burzawa, Jennifer K JK; Goff, Barbara A BA; Speiser, Paul P; Swisher, Elizabeth M EM; Norquist, Barbara M BM; Risques, Rosa Ana RA
Publication Date: 2022-10

Variant appearance in text: ARID1A: 1612C>T; Q538*
PubMed Link: 36311816
Variant Present in the following documents:
  • crc-22-0314-s02.xlsx, sheet 6
View BVdb publication page



Germline MBD4 deficiency causes a multi-tumor predisposition syndrome.

American Journal Of Human Genetics
Palles, Claire C; West, Hannah D HD; Chew, Edward E; Galavotti, Sara S; Flensburg, Christoffer C; Grolleman, Judith E JE; Jansen, Erik A M EAM; Curley, Helen H; Chegwidden, Laura L; Arbe-Barnes, Edward H EH; Lander, Nicola N; Truscott, Rebekah R; Pagan, Judith J; Bajel, Ashish A; Sherwood, Kitty K; Martin, Lynn L; Thomas, Huw H; Georgiou, Demetra D; Fostira, Florentia F; Goldberg, Yael Y; Adams, David J DJ; van der Biezen, Simone A M SAM; Christie, Michael M; Clendenning, Mark M; Thomas, Laura E LE; Deltas, Constantinos C; Dimovski, Aleksandar J AJ; Dymerska, Dagmara D; Lubinski, Jan J; Mahmood, Khalid K; van der Post, Rachel S RS; Sanders, Mathijs M; Weitz, Jürgen J; Taylor, Jenny C JC; Turnbull, Clare C; Vreede, Lilian L; van Wezel, Tom T; Whalley, Celina C; Arnedo-Pac, Claudia C; Caravagna, Giulio G; Cross, William W; Chubb, Daniel D; Frangou, Anna A; Gruber, Andreas J AJ; Kinnersley, Ben B; Noyvert, Boris B; Church, David D; Graham, Trevor T; Houlston, Richard R; Lopez-Bigas, Nuria N; Sottoriva, Andrea A; Wedge, David D; , ; , ; , ; Jenkins, Mark A MA; Kuiper, Roland P RP; Roberts, Andrew W AW; Cheadle, Jeremy P JP; Ligtenberg, Marjolijn J L MJL; Hoogerbrugge, Nicoline N; Koelzer, Viktor H VH; Rivas, Andres Dacal AD; Winship, Ingrid M IM; Ponte, Clara Ruiz CR; Buchanan, Daniel D DD; Power, Derek G DG; Green, Andrew A; Tomlinson, Ian P M IPM; Sampson, Julian R JR; Majewski, Ian J IJ; de Voer, Richarda M RM
Publication Date: 2022-05-05

Variant appearance in text: ARID1A: 1612C>T
PubMed Link: 35460607
Variant Present in the following documents:
  • mmc2.xlsx, sheet 2
View BVdb publication page



Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea.

Bmc Medical Genomics
Lee, Yena Y; Choi, Yunha Y; Seo, Go Hun GH; Kim, Gu-Hwan GH; Keum, Changwon C; Kim, Yoo-Mi YM; Do, Hyo-Sang HS; Choi, Jeongmin J; Choi, In Hee IH; Yoo, Han-Wook HW; Lee, Beom Hee BH
Publication Date: 2021-10-27

Variant appearance in text: ARID1A: Gln538*
PubMed Link: 34706719
Variant Present in the following documents:
  • Main text
  • 12920_2021_Article_1104.pdf
View BVdb publication page



Integrative analysis reveals clinically relevant molecular fingerprints in pancreatic cancer.

Molecular Therapy. Nucleic Acids
Song, Libin L; Qi, Simin S; Hu, Wei W; Fang, Zhixiao Z; Yu, Dehua D; Liu, Teng T; Wu, Jingni J; Wu, Yangjun Y; Wu, Aiwei A; Feng, Lanyun L; Xie, Jing J; Zhang, Bo B; He, Wenguang W; Ning, Zhouyu Z; Liu, Luming L; Qin, Jiang-Jiang JJ; Li, Shengli S
Publication Date: 2021-12-03

Variant appearance in text: ARID1A: 1612C>T; Q538*
PubMed Link: 34513290
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology
Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y
Publication Date: 2021-04-01

Variant appearance in text: ARID1A: Q538X
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Molecular Characterization of Ovarian Yolk Sac Tumor (OYST).

Cancers
Hodroj, Khalil K; Stevovic, Aleksandra A; Attignon, Valery V; Ferraioli, Domenico D; Meeus, Pierre P; Croce, Sabrina S; Chopin, Nicolas N; Rossi, Lea L; Floquet, Anne A; Rousset-Jablonski, Christine C; Tredan, Olivier O; Guyon, Frédéric F; Treilleux, Isabelle I; Rannou, Corinne C; Morfouace, Marie M; Ray-Coquard, Isabelle I
Publication Date: 2021-01-09

Variant appearance in text: ARID1A: Q538*
PubMed Link: 33435376
Variant Present in the following documents:
  • Main text
  • cancers-13-00220.pdf
View BVdb publication page



First results of the EORTC-SPECTA/Arcagen study exploring the genomics of rare cancers in collaboration with the European reference network EURACAN.

Esmo Open
Morfouace, Marie M; Stevovic, Aleksandra A; Vinches, Marie M; Golfinopoulos, Vassilis V; Jin, Dexter X DX; Holmes, Oliver O; Erlich, Rachel R; Fayette, Jerome J; Croce, Sabrina S; Ray-Coquard, Isabelle I; Girard, Nicolas N; Blay, Jean-Yves JY
Publication Date: 2020-12

Variant appearance in text: ARID1A: Q538*
PubMed Link: 33262201
Variant Present in the following documents:
  • Main text
  • esmoopen-2020-001075.pdf
View BVdb publication page



Comprehensive genomic and immunological characterization of Chinese non-small cell lung cancer patients.

Nature Communications
Zhang, Xu-Chao XC; Wang, Jun J; Shao, Guo-Guang GG; Wang, Qun Q; Qu, Xiaotao X; Wang, Bo B; Moy, Christopher C; Fan, Yue Y; Albertyn, Zayed Z; Huang, Xiayu X; Zhang, Jingyu J; Qiu, Yang Y; Platero, Suso S; Lorenzi, Matthew V MV; Zudaire, Enrique E; Yang, Jennifer J; Cheng, Ying Y; Xu, Lin L; Wu, Yi-Long YL
Publication Date: 2019-04-16

Variant appearance in text: ARID1A: Q538*
PubMed Link: 30992440
Variant Present in the following documents:
  • 41467_2019_9762_MOESM12_ESM.xlsx, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: ARID1A: 1612C>T; Q538*
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Genomic landscape of cutaneous T cell lymphoma.

Nature Genetics
Choi, Jaehyuk J; Goh, Gerald G; Walradt, Trent T; Hong, Bok S BS; Bunick, Christopher G CG; Chen, Kan K; Bjornson, Robert D RD; Maman, Yaakov Y; Wang, Tiffany T; Tordoff, Jesse J; Carlson, Kacie K; Overton, John D JD; Liu, Kristina J KJ; Lewis, Julia M JM; Devine, Lesley L; Barbarotta, Lisa L; Foss, Francine M FM; Subtil, Antonio A; Vonderheid, Eric C EC; Edelson, Richard L RL; Schatz, David G DG; Boggon, Titus J TJ; Girardi, Michael M; Lifton, Richard P RP
Publication Date: 2015-09

Variant appearance in text: ARID1A: Q538X
PubMed Link: 26192916
Variant Present in the following documents:
  • NIHMS702568-supplement-1.pdf
View BVdb publication page



Convergent structural alterations define SWItch/Sucrose NonFermentable (SWI/SNF) chromatin remodeler as a central tumor suppressive complex in pancreatic cancer.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Shain, A Hunter AH; Giacomini, Craig P CP; Matsukuma, Karen K; Karikari, Collins A CA; Bashyam, Murali D MD; Hidalgo, Manuel M; Maitra, Anirban A; Pollack, Jonathan R JR
Publication Date: 2012-01-31

Variant appearance in text: ARID1A: Q538X
PubMed Link: 22233809
Variant Present in the following documents:
  • Main text
View BVdb publication page