PTEN c.895G>T ;(p.E299*)

Variant ID: 10-89720744-G-T

NM_000314.4(PTEN):c.895G>T;(p.E299*)

This variant was identified in 37 publications

View GRCh38 version.




Publications:


Relapse timing is associated with distinct evolutionary dynamics in DLBCL.

Medrxiv : The Preprint Server For Health Sciences
Hilton, Laura K LK; Ngu, Henry S HS; Collinge, Brett B; Dreval, Kostiantyn K; Ben-Neriah, Susana S; Rushton, Christopher K CK; Wong, Jasper C H JCH; Cruz, Manuela M; Roth, Andrew A; Boyle, Merrill M; Meissner, Barbara B; Slack, Graham W GW; Farinha, Pedro P; Craig, Jeffrey W JW; Gerrie, Alina S AS; Freeman, Ciara L CL; Villa, Diego D; Crump, Michael M; Shepherd, Lois L; Hay, Annette E AE; Kuruvilla, John J; Savage, Kerry J KJ; Kridel, Robert R; Karsan, Aly A; Marra, Marco A MA; Sehn, Laurie H LH; Steidl, Christian C; Morin, Ryan D RD; Scott, David W DW
Publication Date: 2023-03-08

Variant appearance in text: PTEN: 895G>T; Glu299Ter
PubMed Link: 36945587
Variant Present in the following documents:
  • media-1.xlsx, sheet 14
View BVdb publication page



Integrative pan-cancer genomic and transcriptomic analyses of refractory metastatic cancer.

Cancer Discovery
Pradat, Yoann Y; Viot, Julien J; Yurchenko, Andrey A AA; Gunbin, Konstantin K; Cerbone, Luigi L; Deloger, Marc M; Grisay, Guillaume G; Verlingue, Loic L; Scott, Veronique V; Padioleau, Ismael I; Panunzi, Leonardo L; Michiels, Stefan S; Hollebecque, Antoine A; Jules-Clement, Gerome G; Mezquita, Laura L; Laine, Antoine A; Loriot, Yohann Y; Besse, Benjamin B; Friboulet, Luc L; Andre, Fabrice F; Cournede, Paul-Henry PH; Gautheret, Daniel D; Nikolaev, Sergey I SI
Publication Date: 2023-03-02

Variant appearance in text: PTEN: Glu299Ter
PubMed Link: 36862804
Variant Present in the following documents:
  • cd-22-0966_supplementary_tables_s1-s11_suppst1.xlsx, sheet 6
View BVdb publication page



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: PTEN: 895G>T; Glu299Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Significance of logistic regression scoring model based on natural killer cell-mediated cytotoxic pathway in the diagnosis of colon cancer.

Frontiers In Immunology
Ye, Zhen Z; Zhang, Huanhuan H; Liang, Jianwei J; Yi, Shuying S; Zhan, Xianquan X
Publication Date: 2023

Variant appearance in text: PTEN: E299*
PubMed Link: 36742322
Variant Present in the following documents:
  • Table_8.xlsx, sheet 1
View BVdb publication page



Ultrasensitive tumour-agnostic non-invasive detection of colorectal cancer recurrence using ctDNA methylation.

Clinical And Translational Medicine
Xiao, Yu Y; Wang, Xiaodong X; Weng, Hong H; Ding, Zhao Z; Qian, Kaiyu K; Jin, Wan W; Lu, Sen S; Ju, Lingao L; He, Zhiwen Z; Wang, Gang G; Xie, Xiaoyu X; Liu, Dongmei D; Fan, Zhou Z; Wu, Kai K; Li, Sheng S; Guo, Huanhuan H; Qian, Guofeng G; Jiang, Wei W; Leng, Yunji Y; Zhao, Junpeng J; Cao, Xinyue X; Peng, Minsheng M; Jiang, Congqing C; Li, Li L; Zhang, Yi Y; Wang, Xinghuan X
Publication Date: 2022-09

Variant appearance in text: PTEN: 895G>T; E299*
PubMed Link: 36103400
Variant Present in the following documents:
  • CTM2-12-e1015-s002.xlsx, sheet 1
View BVdb publication page



Molecular Genetic Profile of 300 Japanese Patients with Diffuse Gliomas Using a Glioma-tailored Gene Panel.

Neurologia Medico-Chirurgica
Higa, Nayuta N; Akahane, Toshiaki T; Yokoyama, Seiya S; Yonezawa, Hajime H; Uchida, Hiroyuki H; Fujio, Shingo S; Kirishima, Mari M; Takigawa, Kosuke K; Hata, Nobuhiro N; Toh, Keita K; Yamamoto, Junkoh J; Hanaya, Ryosuke R; Tanimoto, Akihide A; Yoshimoto, Koji K
Publication Date: 2022-09-15

Variant appearance in text: PTEN: E299*
PubMed Link: 36031351
Variant Present in the following documents:
  • 1349-8029-62-0391-s003.pdf
View BVdb publication page



Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.

Bmc Medical Genomics
Sobahy, Turki M TM; Tashkandi, Ghassan G; Bahussain, Donya D; Al-Harbi, Raneem R
Publication Date: 2022-04-25

Variant appearance in text: PTEN: 895G>T; E299*
PubMed Link: 35468810
Variant Present in the following documents:
  • 12920_2022_1235_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Precision medicine-based therapies in advanced colorectal cancer: The University of California San Diego Molecular Tumor Board experience.

Molecular Oncology
Louie, Bryan H BH; Kato, Shumei S; Kim, Ki Hwan KH; Lim, Hyo Jeong HJ; Lee, Suzanna S; Okamura, Ryosuke R; Fanta, Paul T PT; Kurzrock, Razelle R
Publication Date: 2022-07

Variant appearance in text: PTEN: E299*
PubMed Link: 35238467
Variant Present in the following documents:
  • MOL2-16-2575-s001.xlsx, sheet 1
View BVdb publication page



Epidermal growth factor receptor-Mutated Non-small-cell Lung Cancer with Intracranial Progressions and Stable Extracranial Diseases Benefit from Osimertinib Regardless of T790M Mutational Status.

Cancer Control : Journal Of The Moffitt Cancer Center
Liao, Jun J; Huang, Yihua Y; Gan, Jiadi J; Pang, Lanlan L; Ali, Wael A S WAS; Yang, Yunpeng Y; Chen, Likun L; Zhang, Li L; Fang, Wenfeng W
Publication Date: 2022

Variant appearance in text: PTEN: E299*
PubMed Link: 35201951
Variant Present in the following documents:
  • Main text
  • 10.1177_10732748221081360.pdf
View BVdb publication page



Mutation Landscape of Homologous Recombination Repair Genes in Epithelial Ovarian Cancer in China and Its Relationship With Clinicopathlological Characteristics.

Frontiers In Oncology
Yao, Qianlan Q; Liu, Yanhui Y; Zhang, Lihua L; Dong, Lin L; Bao, Longlong L; Bai, Qianming Q; Cui, Qian Q; Xu, Jie J; Li, Min M; Liu, Jing J; Chuai, Shannon S; Ying, Jianming J; Zhang, Zhihong Z; Zhou, Xiaoyan X
Publication Date: 2022

Variant appearance in text: PTEN: 895G>T
PubMed Link: 35186721
Variant Present in the following documents:
  • DataSheet_2.xlsx, sheet 3
View BVdb publication page



Postoperative circulating tumor DNA as markers of recurrence risk in stages II to III colorectal cancer.

Journal Of Hematology & Oncology
Chen, Gong G; Peng, Junjie J; Xiao, Qian Q; Wu, Hao-Xiang HX; Wu, Xiaojun X; Wang, Fulong F; Li, Liren L; Ding, Peirong P; Zhao, Qi Q; Li, Yaqi Y; Wang, Da D; Shao, Yang Y; Bao, Hua H; Pan, Zhizhong Z; Ding, Ke-Feng KF; Cai, Sanjun S; Wang, Feng F; Xu, Rui-Hua RH
Publication Date: 2021-05-17

Variant appearance in text: PTEN: E299*
PubMed Link: 34001194
Variant Present in the following documents:
  • 13045_2021_1089_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications
Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A
Publication Date: 2021-04-14

Variant appearance in text: PTEN: E299*
PubMed Link: 33854067
Variant Present in the following documents:
  • 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9
View BVdb publication page



Molecular correlates and therapeutic targets in T cell-inflamed versus non-T cell-inflamed tumors across cancer types.

Genome Medicine
Bao, Riyue R; Stapor, Daniel D; Luke, Jason J JJ
Publication Date: 2020-10-27

Variant appearance in text: PTEN: E299*
PubMed Link: 33106165
Variant Present in the following documents:
  • 13073_2020_787_MOESM1_ESM.xlsx, sheet 9
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: PTEN: 895G>T; E299X
PubMed Link: 33096476
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



Characterization of colibactin-associated mutational signature in an Asian oral squamous cell carcinoma and in other mucosal tumor types.

Genome Research
Boot, Arnoud A; Ng, Alvin W T AWT; Chong, Fui Teen FT; Ho, Szu-Chi SC; Yu, Willie W; Tan, Daniel S W DSW; Iyer, N Gopalakrishna NG; Rozen, Steven G SG
Publication Date: 2020-06

Variant appearance in text: PTEN: E299X
PubMed Link: 32661091
Variant Present in the following documents:
  • supp_gr.255620.119_Supplemental_Table_S2.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: PTEN: E299*
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Direct targeting of oncogenic RAS mutants with a tumor-specific cytosol-penetrating antibody inhibits RAS mutant-driven tumor growth.

Science Advances
Shin, Seung-Min SM; Kim, Ji-Sun JS; Park, Seong-Wook SW; Jun, Sei-Yong SY; Kweon, Hye-Jin HJ; Choi, Dong-Ki DK; Lee, Dakeun D; Cho, Yong Beom YB; Kim, Yong-Sung YS
Publication Date: 2020-01

Variant appearance in text: PTEN: E299*
PubMed Link: 31998840
Variant Present in the following documents:
  • aay2174_SM.pdf
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: PTEN: 895G>T; E299*
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM13_ESM.xlsx, sheet 1
  • 42003_2019_736_MOESM4_ESM.xlsx, sheet 1
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
  • 42003_2019_736_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Identification of 12 cancer types through genome deep learning.

Scientific Reports
Sun, Yingshuai Y; Zhu, Sitao S; Ma, Kailong K; Liu, Weiqing W; Yue, Yao Y; Hu, Gang G; Lu, Huifang H; Chen, Wenbin W
Publication Date: 2019-11-21

Variant appearance in text: PTEN: E299*
PubMed Link: 31754222
Variant Present in the following documents:
  • 41598_2019_53989_MOESM4_ESM.xlsx, sheet 12
View BVdb publication page



Development and validation of a targeted gene sequencing panel for application to disparate cancers.

Scientific Reports
McCabe, Mark J MJ; Gauthier, Marie-Emilie A MA; Chan, Chia-Ling CL; Thompson, Tanya J TJ; De Sousa, Sunita M C SMC; Puttick, Clare C; Grady, John P JP; Gayevskiy, Velimir V; Tao, Jiang J; Ying, Kevin K; Cipponi, Arcadi A; Deng, Niantao N; Swarbrick, Alex A; Thomas, Melissa L ML; Lord, Reginald V RV; Johns, Amber L AL; Kohonen-Corish, Maija M; O'Toole, Sandra A SA; Clark, Jonathan J; Mueller, Simon A SA; Gupta, Ruta R; McCormack, Ann I AI; Dinger, Marcel E ME; Cowley, Mark J MJ; ,
Publication Date: 2019-11-19

Variant appearance in text: PTEN: 895G>T; E299*
PubMed Link: 31745186
Variant Present in the following documents:
  • 41598_2019_52000_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



RAS and BRAF mutations in cell-free DNA are predictive for outcome of cetuximab monotherapy in patients with tissue-tested RAS wild-type advanced colorectal cancer.

Molecular Oncology
van Helden, Erik J EJ; Angus, Lindsay L; Menke-van der Houven van Oordt, C Willemien CW; Heideman, Daniëlle A M DAM; Boon, Eline E; van Es, Suzanne C SC; Radema, Sandra A SA; van Herpen, Carla M L CML; de Groot, Derk Jan A DJA; de Vries, Elisabeth G E EGE; Jansen, Maurice P H M MPHM; Sleijfer, Stefan S; Verheul, Henk M W HMW
Publication Date: 2019-11

Variant appearance in text: PTEN: E299*
PubMed Link: 31350822
Variant Present in the following documents:
  • MOL2-13-2361-s007.xlsx, sheet 1
View BVdb publication page



An integrated genomic analysis of anaplastic meningioma identifies prognostic molecular signatures.

Scientific Reports
Collord, Grace G; Tarpey, Patrick P; Kurbatova, Natalja N; Martincorena, Inigo I; Moran, Sebastian S; Castro, Manuel M; Nagy, Tibor T; Bignell, Graham G; Maura, Francesco F; Young, Matthew D MD; Berna, Jorge J; Tubio, Jose M C JMC; McMurran, Chris E CE; Young, Adam M H AMH; Sanders, Mathijs M; Noorani, Imran I; Price, Stephen J SJ; Watts, Colin C; Leipnitz, Elke E; Kirsch, Matthias M; Schackert, Gabriele G; Pearson, Danita D; Devadass, Abel A; Ram, Zvi Z; Collins, V Peter VP; Allinson, Kieren K; Jenkinson, Michael D MD; Zakaria, Rasheed R; Syed, Khaja K; Hanemann, C Oliver CO; Dunn, Jemma J; McDermott, Michael W MW; Kirollos, Ramez W RW; Vassiliou, George S GS; Esteller, Manel M; Behjati, Sam S; Brazma, Alvis A; Santarius, Thomas T; McDermott, Ultan U
Publication Date: 2018-09-10

Variant appearance in text: PTEN: E299*
PubMed Link: 30202034
Variant Present in the following documents:
  • 41598_2018_31659_MOESM2_ESM.xlsx, sheet 30
View BVdb publication page



Crosstalk between PKCα and PI3K/AKT Signaling Is Tumor Suppressive in the Endometrium.

Cell Reports
Hsu, Alice H AH; Lum, Michelle A MA; Shim, Kang-Sup KS; Frederick, Peter J PJ; Morrison, Carl D CD; Chen, Baojiang B; Lele, Subodh M SM; Sheinin, Yuri M YM; Daikoku, Takiko T; Dey, Sudhansu K SK; Leone, Gustavo G; Black, Adrian R AR; Black, Jennifer D JD
Publication Date: 2018-07-17

Variant appearance in text: PTEN: E299X
PubMed Link: 30021163
Variant Present in the following documents:
  • NIHMS1502991-supplement-1.pdf
  • NIHMS1502991-supplement-2.pdf
View BVdb publication page



Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

The Journal Of Pathology
Temko, Daniel D; Van Gool, Inge C IC; Rayner, Emily E; Glaire, Mark M; Makino, Seiko S; Brown, Matthew M; Chegwidden, Laura L; Palles, Claire C; Depreeuw, Jeroen J; Beggs, Andrew A; Stathopoulou, Chaido C; Mason, John J; Baker, Ann-Marie AM; Williams, Marc M; Cerundolo, Vincenzo V; Rei, Margarida M; Taylor, Jenny C JC; Schuh, Anna A; Ahmed, Ahmed A; Amant, Frédéric F; Lambrechts, Diether D; Smit, Vincent Thbm VT; Bosse, Tjalling T; Graham, Trevor A TA; Church, David N DN; Tomlinson, Ian I
Publication Date: 2018-07

Variant appearance in text: PTEN: 895G>T; E299*
PubMed Link: 29604063
Variant Present in the following documents:
  • PATH-245-283-s022.xlsx, sheet 1
  • PATH-245-283-s021.xlsx, sheet 1
  • PATH-245-283-s023.xlsx, sheet 1
View BVdb publication page



Comprehensive genomic sequencing detects important genetic differences between right-sided and left-sided colorectal cancer.

Oncotarget
Shimada, Yoshifumi Y; Kameyama, Hitoshi H; Nagahashi, Masayuki M; Ichikawa, Hiroshi H; Muneoka, Yusuke Y; Yagi, Ryoma R; Tajima, Yosuke Y; Okamura, Takuma T; Nakano, Masato M; Sakata, Jun J; Kobayashi, Takashi T; Nogami, Hitoshi H; Maruyama, Satoshi S; Takii, Yasumasa Y; Hayashida, Tetsu T; Takaishi, Hiromasa H; Kitagawa, Yuko Y; Oki, Eiji E; Konishi, Tsuyoshi T; Ishida, Fumio F; Kudo, Shin-Ei SE; Ring, Jennifer E JE; Protopopov, Alexei A; Lyle, Stephen S; Ling, Yiwei Y; Okuda, Shujiro S; Ishikawa, Takashi T; Akazawa, Kohei K; Takabe, Kazuaki K; Wakai, Toshifumi T
Publication Date: 2017-11-07

Variant appearance in text: PTEN: E299X
PubMed Link: 29212173
Variant Present in the following documents:
  • oncotarget-08-93567-s003.xlsx, sheet 1
View BVdb publication page



Mutational heterogeneity in non-serous ovarian cancers.

Scientific Reports
Teer, Jamie K JK; Yoder, Sean S; Gjyshi, Anxhela A; Nicosia, Santo V SV; Zhang, Chaomei C; Monteiro, Alvaro N A ANA
Publication Date: 2017-08-29

Variant appearance in text: PTEN: E299X
PubMed Link: 28852190
Variant Present in the following documents:
  • 41598_2017_10432_MOESM2_ESM.xlsx, sheet 3
  • 41598_2017_10432_MOESM2_ESM.xlsx, sheet 10
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: PTEN: Glu299Ter
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Molecular dissection of colorectal cancer in pre-clinical models identifies biomarkers predicting sensitivity to EGFR inhibitors.

Nature Communications
Schütte, Moritz M; Risch, Thomas T; Abdavi-Azar, Nilofar N; Boehnke, Karsten K; Schumacher, Dirk D; Keil, Marlen M; Yildiriman, Reha R; Jandrasits, Christine C; Borodina, Tatiana T; Amstislavskiy, Vyacheslav V; Worth, Catherine L CL; Schweiger, Caroline C; Liebs, Sandra S; Lange, Martin M; Warnatz, Hans-Jörg HJ; Butcher, Lee M LM; Barrett, James E JE; Sultan, Marc M; Wierling, Christoph C; Golob-Schwarzl, Nicole N; Lax, Sigurd S; Uranitsch, Stefan S; Becker, Michael M; Welte, Yvonne Y; Regan, Joseph Lewis JL; Silvestrov, Maxine M; Kehler, Inge I; Fusi, Alberto A; Kessler, Thomas T; Herwig, Ralf R; Landegren, Ulf U; Wienke, Dirk D; Nilsson, Mats M; Velasco, Juan A JA; Garin-Chesa, Pilar P; Reinhard, Christoph C; Beck, Stephan S; Schäfer, Reinhold R; Regenbrecht, Christian R A CR; Henderson, David D; Lange, Bodo B; Haybaeck, Johannes J; Keilholz, Ulrich U; Hoffmann, Jens J; Lehrach, Hans H; Yaspo, Marie-Laure ML
Publication Date: 2017-02-10

Variant appearance in text: PTEN: E299X
PubMed Link: 28186126
Variant Present in the following documents:
  • ncomms14262-s5.xlsx, sheet 2
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: PTEN: 895G>T; E299*
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 2
View BVdb publication page



Loss of switch/sucrose non-fermenting complex protein expression is associated with dedifferentiation in endometrial carcinomas.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Karnezis, Anthony N AN; Hoang, Lien N LN; Coatham, Mackenzie M; Ravn, Sarah S; Almadani, Noorah N; Tessier-Cloutier, Basile B; Irving, Julie J; Meng, Bo B; Li, Xiaodong X; Chow, Christine C; McAlpine, Jessica J; Kuo, Kuan-Ting KT; Mao, Tsui-Lien TL; Djordjevic, Bojana B; Soslow, Robert A RA; Huntsman, David G DG; Blake Gilks, C C; Köbel, Martin M; Lee, Cheng-Han CH
Publication Date: 2016-03

Variant appearance in text: PTEN: E299X
PubMed Link: 26743474
Variant Present in the following documents:
  • Main text
View BVdb publication page



Gender Specific Mutation Incidence and Survival Associations in Clear Cell Renal Cell Carcinoma (CCRCC).

Plos One
Ricketts, Christopher J CJ; Linehan, W Marston WM
Publication Date: 2015

Variant appearance in text: PTEN: E299*
PubMed Link: 26484545
Variant Present in the following documents:
  • pone.0140257.s003.xlsx, sheet 1
View BVdb publication page



A clinically applicable molecular-based classification for endometrial cancers.

British Journal Of Cancer
Talhouk, A A; McConechy, M K MK; Leung, S S; Li-Chang, H H HH; Kwon, J S JS; Melnyk, N N; Yang, W W; Senz, J J; Boyd, N N; Karnezis, A N AN; Huntsman, D G DG; Gilks, C B CB; McAlpine, J N JN
Publication Date: 2015-07-14

Variant appearance in text: PTEN: E299*
PubMed Link: 26172027
Variant Present in the following documents:
  • bjc2015190x5.xls, sheet 1
View BVdb publication page



High-depth sequencing of over 750 genes supports linear progression of primary tumors and metastases in most patients with liver-limited metastatic colorectal cancer.

Genome Biology
Tan, Iain Beehuat IB; Malik, Simeen S; Ramnarayanan, Kalpana K; McPherson, John R JR; Ho, Dan Liang DL; Suzuki, Yuka Y; Ng, Sarah Boonhsui SB; Yan, Su S; Lim, Kiat Hon KH; Koh, Dennis D; Hoe, Chew Min CM; Chan, Chung Yip CY; Ten, Rachel R; Goh, Brian Kp BK; Chung, Alexander Yf AY; Tan, Joanna J; Chan, Cheryl Xueli CX; Tay, Su Ting ST; Alexander, Lezhava L; Nagarajan, Niranjan N; Hillmer, Axel M AM; Tang, Choon Leong CL; Chua, Clarinda C; Teh, Bin Tean BT; Rozen, Steve S; Tan, Patrick P
Publication Date: 2015-02-12

Variant appearance in text: PTEN: E299X
PubMed Link: 25808843
Variant Present in the following documents:
  • 13059_2015_589_MOESM4_ESM.pdf
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: PTEN: E299*
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
  • NIHMS630249-supplement-5.xlsx, sheet 1
  • NIHMS630249-supplement-7.xlsx, sheet 1
View BVdb publication page



Beyond BRAF(V600): clinical mutation panel testing by next-generation sequencing in advanced melanoma.

The Journal Of Investigative Dermatology
Siroy, Alan E AE; Boland, Genevieve M GM; Milton, Denái R DR; Roszik, Jason J; Frankian, Silva S; Malke, Jared J; Haydu, Lauren L; Prieto, Victor G VG; Tetzlaff, Michael M; Ivan, Doina D; Wang, Wei-Lien WL; Torres-Cabala, Carlos C; Curry, Jonathan J; Roy-Chowdhuri, Sinchita S; Broaddus, Russell R; Rashid, Asif A; Stewart, John J; Gershenwald, Jeffrey E JE; Amaria, Rodabe N RN; Patel, Sapna P SP; Papadopoulos, Nicholas E NE; Bedikian, Agop A; Hwu, Wen-Jen WJ; Hwu, Patrick P; Diab, Adi A; Woodman, Scott E SE; Aldape, Kenneth D KD; Luthra, Rajyalakshmi R; Patel, Keyur P KP; Shaw, Kenna R KR; Mills, Gordon B GB; Mendelsohn, John J; Meric-Bernstam, Funda F; Kim, Kevin B KB; Routbort, Mark J MJ; Lazar, Alexander J AJ; Davies, Michael A MA
Publication Date: 2015-02

Variant appearance in text: PTEN: 895G>T; E299*
PubMed Link: 25148578
Variant Present in the following documents:
  • NIHMS622327-supplement-supplement_1.pdf
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PI3K pathway dependencies in endometrioid endometrial cancer cell lines.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Weigelt, Britta B; Warne, Patricia H PH; Lambros, Maryou B MB; Reis-Filho, Jorge S JS; Downward, Julian J
Publication Date: 2013-07-01

Variant appearance in text: PTEN: E299X
PubMed Link: 23674493
Variant Present in the following documents:
  • Main text
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DNA polymerase ε and δ exonuclease domain mutations in endometrial cancer.

Human Molecular Genetics
Church, David N DN; Briggs, Sarah E W SE; Palles, Claire C; Domingo, Enric E; Kearsey, Stephen J SJ; Grimes, Jonathon M JM; Gorman, Maggie M; Martin, Lynn L; Howarth, Kimberley M KM; Hodgson, Shirley V SV; , ; Kaur, Kulvinder K; Taylor, Jenny J; Tomlinson, Ian P M IP
Publication Date: 2013-07-15

Variant appearance in text: PTEN: 895G>T; Glu299*
PubMed Link: 23528559
Variant Present in the following documents:
  • supp_ddt131_ddt131supp.pdf
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