ARID1A c.6747_6748insT ;(p.E2250*)

Variant ID: 1-27107136-A-AT

NM_006015.4(ARID1A):c.6747_6748insT;(p.E2250*)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Functional and genomic characterization of patient-derived xenograft model to study the adaptation to mTORC1 inhibitor in clear cell renal cell carcinoma.

Cancer Medicine
Sakamoto, Hiromasa H; Yamasaki, Toshinari T; Sumiyoshi, Takayuki T; Takeda, Masashi M; Shibasaki, Noboru N; Utsunomiya, Noriaki N; Arakaki, Ryuichiro R; Akamatsu, Shusuke S; Kobayashi, Takashi T; Inoue, Takahiro T; Kamba, Tomomi T; Nakamura, Eijiro E; Ogawa, Osamu O
Publication Date: 2021-01

Variant appearance in text: ARID1A: Glu2250fs
PubMed Link: 33107222
Variant Present in the following documents:
  • Main text
  • CAM4-10-119.pdf
View BVdb publication page



Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature
Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E
Publication Date: 2019-11

Variant appearance in text: ARID1A: Glu2250*
PubMed Link: 31645765
Variant Present in the following documents:
  • 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Mutational Profile of Metastatic Breast Cancers: A Retrospective Analysis.

Plos Medicine
Lefebvre, Celine C; Bachelot, Thomas T; Filleron, Thomas T; Pedrero, Marion M; Campone, Mario M; Soria, Jean-Charles JC; Massard, Christophe C; Lévy, Christelle C; Arnedos, Monica M; Lacroix-Triki, Magali M; Garrabey, Julie J; Boursin, Yannick Y; Deloger, Marc M; Fu, Yu Y; Commo, Frédéric F; Scott, Véronique V; Lacroix, Ludovic L; Dieci, Maria Vittoria MV; Kamal, Maud M; Diéras, Véronique V; Gonçalves, Anthony A; Ferrerro, Jean-Marc JM; Romieu, Gilles G; Vanlemmens, Laurence L; Mouret Reynier, Marie-Ange MA; Théry, Jean-Christophe JC; Le Du, Fanny F; Guiu, Séverine S; Dalenc, Florence F; Clapisson, Gilles G; Bonnefoi, Hervé H; Jimenez, Marta M; Le Tourneau, Christophe C; André, Fabrice F
Publication Date: 2016-12

Variant appearance in text: ARID1A: Glu2250fs
PubMed Link: 28027327
Variant Present in the following documents:
  • pmed.1002201.s012.xlsx, sheet 1
View BVdb publication page



Impact of mutational profiles on response of primary oestrogen receptor-positive breast cancers to oestrogen deprivation.

Nature Communications
Gellert, Pascal P; Segal, Corrinne V CV; Gao, Qiong Q; López-Knowles, Elena E; Martin, Lesley-Ann LA; Dodson, Andrew A; Li, Tiandao T; Miller, Christopher A CA; Lu, Charles C; Mardis, Elaine R ER; Gillman, Alexa A; Morden, James J; Graf, Manuela M; Sidhu, Kally K; Evans, Abigail A; Shere, Michael M; Holcombe, Christopher C; McIntosh, Stuart A SA; Bundred, Nigel N; Skene, Anthony A; Maxwell, William W; Robertson, John J; Bliss, Judith M JM; Smith, Ian I; Dowsett, Mitch M; ,
Publication Date: 2016-11-09

Variant appearance in text: N/A
PubMed Link: 27827358
Variant Present in the following documents:
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: N/A
PubMed Link: 25326804
Variant Present in the following documents:
View BVdb publication page