PTEN c.758T>A ;(p.I253N)

Variant ID: 10-89717733-T-A

NM_000314.4(PTEN):c.758T>A;(p.I253N)

This variant was identified in 17 publications

View GRCh38 version.




Publications:


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: PTEN: 758T>A; I253N
PubMed Link: 36333792
Variant Present in the following documents:
  • 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research
Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H
Publication Date: 2022-01

Variant appearance in text: PTEN: I253N
PubMed Link: 34963661
Variant Present in the following documents:
  • supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
View BVdb publication page



Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Thoracic Cancer
Asselta, Rosanna R; Di Tommaso, Luca L; Perrino, Matteo M; Destro, Annarita A; Giordano, Laura L; Cardamone, Giulia G; Rubino, Luca L; Santoro, Armando A; Duga, Stefano S; Zucali, Paolo Andrea PA
Publication Date: 2021-05

Variant appearance in text: PTEN: 758T>A; I253N
PubMed Link: 33704917
Variant Present in the following documents:
  • TCA-12-1271-s003.xls, sheet 1
View BVdb publication page



Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine
Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS
Publication Date: 2021-01

Variant appearance in text: PTEN: I253N
PubMed Link: 33314633
Variant Present in the following documents:
  • CAM4-10-53-s004.xlsx, sheet 1
View BVdb publication page



Phase and context shape the function of composite oncogenic mutations.

Nature
Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS
Publication Date: 2020-06

Variant appearance in text: PTEN: I253N
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



Tumor Mutational Patterns and Infiltrating Lymphocyte Density in Young and Elderly Patients With Breast Cancer.

Cancer Genomics & Proteomics
Nikolaidi, Adamantia A; Kotoula, Vassiliki V; Koliou, Georgia-Angeliki GA; Giannoulatou, Eleni E; Papadopoulou, Kyriaki K; Zagouri, Flora F; Pentheroudakis, George G; Gogas, Helen H; Bobos, Mattheos M; Chatzopoulos, Kyriakos K; Oikonomopoulos, Georgios G; Pectasides, Dimitrios D; Saloustros, Emmanouil E; Arnogiannaki, Niki N; Nicolaou, Irene I; Papakostas, Pavlos P; Bompolaki, Iliada I; Aravantinos, Gerasimos G; Athanasiadis, Ilias I; Fountzilas, George G
Publication Date: 2020

Variant appearance in text: PTEN: Ile253Asn
PubMed Link: 32108041
Variant Present in the following documents:
  • Main text
View BVdb publication page



Community assessment to advance computational prediction of cancer drug combinations in a pharmacogenomic screen.

Nature Communications
Menden, Michael P MP; Wang, Dennis D; Mason, Mike J MJ; Szalai, Bence B; Bulusu, Krishna C KC; Guan, Yuanfang Y; Yu, Thomas T; Kang, Jaewoo J; Jeon, Minji M; Wolfinger, Russ R; Nguyen, Tin T; Zaslavskiy, Mikhail M; , ; Jang, In Sock IS; Ghazoui, Zara Z; Ahsen, Mehmet Eren ME; Vogel, Robert R; Neto, Elias Chaibub EC; Norman, Thea T; Tang, Eric K Y EKY; Garnett, Mathew J MJ; Veroli, Giovanni Y Di GYD; Fawell, Stephen S; Stolovitzky, Gustavo G; Guinney, Justin J; Dry, Jonathan R JR; Saez-Rodriguez, Julio J
Publication Date: 2019-06-17

Variant appearance in text: PTEN: I253N
PubMed Link: 31209238
Variant Present in the following documents:
  • 41467_2019_9799_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Recurrent WNT pathway alterations are frequent in relapsed small cell lung cancer.

Nature Communications
Wagner, Alex H AH; Devarakonda, Siddhartha S; Skidmore, Zachary L ZL; Krysiak, Kilannin K; Ramu, Avinash A; Trani, Lee L; Kunisaki, Jason J; Masood, Ashiq A; Waqar, Saiama N SN; Spies, Nicholas C NC; Morgensztern, Daniel D; Waligorski, Jason J; Ponce, Jennifer J; Fulton, Robert S RS; Maggi, Leonard B LB; Weber, Jason D JD; Watson, Mark A MA; O'Conor, Christopher J CJ; Ritter, Jon H JH; Olsen, Rachelle R RR; Cheng, Haixia H; Mukhopadhyay, Anandaroop A; Can, Ismail I; Cessna, Melissa H MH; Oliver, Trudy G TG; Mardis, Elaine R ER; Wilson, Richard K RK; Griffith, Malachi M; Griffith, Obi L OL; Govindan, Ramaswamy R
Publication Date: 2018-09-17

Variant appearance in text: PTEN: I253N
PubMed Link: 30224629
Variant Present in the following documents:
  • 41467_2018_6162_MOESM13_ESM.xlsx, sheet 1
View BVdb publication page



NF1 mutations in conjunctival melanoma.

British Journal Of Cancer
Scholz, S L SL; Cosgarea, I I; Süßkind, D D; Murali, R R; Möller, I I; Reis, H H; Leonardelli, S S; Schilling, B B; Schimming, T T; Hadaschik, E E; Franklin, C C; Paschen, A A; Sucker, A A; Steuhl, K P KP; Schadendorf, D D; Westekemper, H H; Griewank, K G KG
Publication Date: 2018-05

Variant appearance in text: PTEN: 758T>A; Ile253Asn
PubMed Link: 29559732
Variant Present in the following documents:
  • 41416_2018_46_MOESM4_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: PTEN: 758T>A; I253N
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.

Plos Computational Biology
Bendl, Jaroslav J; Musil, Miloš M; Štourač, Jan J; Zendulka, Jaroslav J; Damborský, Jiří J; Brezovský, Jan J
Publication Date: 2016-05

Variant appearance in text: PTEN: I253N
PubMed Link: 27224906
Variant Present in the following documents:
  • pcbi.1004962.s005.xlsx, sheet 1
View BVdb publication page



Less frequently mutated genes in colorectal cancer: evidences from next-generation sequencing of 653 routine cases.

Journal Of Clinical Pathology
Malapelle, Umberto U; Pisapia, Pasquale P; Sgariglia, Roberta R; Vigliar, Elena E; Biglietto, Maria M; Carlomagno, Chiara C; Giuffrè, Giuseppe G; Bellevicine, Claudio C; Troncone, Giancarlo G
Publication Date: 2016-09

Variant appearance in text: PTEN: I253N
PubMed Link: 26797410
Variant Present in the following documents:
  • jclinpath-2015-203403-s2.pdf
View BVdb publication page



InsR/IGF1R Pathway Mediates Resistance to EGFR Inhibitors in Glioblastoma.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Ma, Yufang Y; Tang, Nan N; Thompson, Reid C RC; Mobley, Bret C BC; Clark, Steven W SW; Sarkaria, Jann N JN; Wang, Jialiang J
Publication Date: 2016-04-01

Variant appearance in text: PTEN: I253N
PubMed Link: 26561558
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of the genetic phylogeny of multifocal prostate cancer identifies multiple independent clonal expansions in neoplastic and morphologically normal prostate tissue.

Nature Genetics
Cooper, Colin S CS; Eeles, Rosalind R; Wedge, David C DC; Van Loo, Peter P; Gundem, Gunes G; Alexandrov, Ludmil B LB; Kremeyer, Barbara B; Butler, Adam A; Lynch, Andrew G AG; Camacho, Niedzica N; Massie, Charlie E CE; Kay, Jonathan J; Luxton, Hayley J HJ; Edwards, Sandra S; Kote-Jarai, ZSofia Z; Dennis, Nening N; Merson, Sue S; Leongamornlert, Daniel D; Zamora, Jorge J; Corbishley, Cathy C; Thomas, Sarah S; Nik-Zainal, Serena S; O'Meara, Sarah S; Matthews, Lucy L; Clark, Jeremy J; Hurst, Rachel R; Mithen, Richard R; Bristow, Robert G RG; Boutros, Paul C PC; Fraser, Michael M; Cooke, Susanna S; Raine, Keiran K; Jones, David D; Menzies, Andrew A; Stebbings, Lucy L; Hinton, Jon J; Teague, Jon J; McLaren, Stuart S; Mudie, Laura L; Hardy, Claire C; Anderson, Elizabeth E; Joseph, Olivia O; Goody, Victoria V; Robinson, Ben B; Maddison, Mark M; Gamble, Stephen S; Greenman, Christopher C; Berney, Dan D; Hazell, Steven S; Livni, Naomi N; , ; Fisher, Cyril C; Ogden, Christopher C; Kumar, Pardeep P; Thompson, Alan A; Woodhouse, Christopher C; Nicol, David D; Mayer, Erik E; Dudderidge, Tim T; Shah, Nimish C NC; Gnanapragasam, Vincent V; Voet, Thierry T; Campbell, Peter P; Futreal, Andrew A; Easton, Douglas D; Warren, Anne Y AY; Foster, Christopher S CS; Stratton, Michael R MR; Whitaker, Hayley C HC; McDermott, Ultan U; Brewer, Daniel S DS; Neal, David E DE
Publication Date: 2015-04

Variant appearance in text: PTEN: I253N
PubMed Link: 25730763
Variant Present in the following documents:
  • NIHMS61925-supplement-2.pdf
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: PTEN: I253N
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 1
View BVdb publication page



Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research
Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C
Publication Date: 2011-09-01

Variant appearance in text: PTEN: I253N
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page



p16INK4a expression and absence of activated B-RAF are independent predictors of chemosensitivity in melanoma tumors.

Neoplasia (New York, N.Y.)
Gallagher, Stuart J SJ; Thompson, John F JF; Indsto, James J; Scurr, Lyndee L LL; Lett, Margaret M; Gao, Bo-Fu BF; Dunleavey, Ruth R; Mann, Graham J GJ; Kefford, Richard F RF; Rizos, Helen H
Publication Date: 2008-11

Variant appearance in text: PTEN: I253N
PubMed Link: 18953432
Variant Present in the following documents:
  • Main text
View BVdb publication page