PTEN c.404T>A ;(p.I135K)

Variant ID: 10-89692920-T-A

NM_000314.4(PTEN):c.404T>A;(p.I135K)

This variant was identified in 27 publications

View GRCh38 version.




Publications:


Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09

Variant appearance in text: PTEN: 404T>A; I135K; rs370795352
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Frontiers In Genetics
Keskin Karakoyun, Hilal H; Yüksel, Şirin K ŞK; Amanoglu, Ilayda I; Naserikhojasteh, Lara L; Yeşilyurt, Ahmet A; Yakıcıer, Cengiz C; Timuçin, Emel E; Akyerli, Cemaliye B CB
Publication Date: 2023

Variant appearance in text: PTEN: I135K
PubMed Link: 36896237
Variant Present in the following documents:
  • Table1.xlsx, sheet 1
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: 404T>A; Ile135Lys
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics
G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A
Publication Date: 2022

Variant appearance in text: PTEN: I135K
PubMed Link: 36561320
Variant Present in the following documents:
  • Main text
  • Table3.xlsx, sheet 1
  • Table2.xlsx, sheet 6
  • fgene-13-1071352.pdf
View BVdb publication page



Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications
Boström, Martin M; Larsson, Erik E
Publication Date: 2022-11-17

Variant appearance in text: PTEN: I135K
PubMed Link: 36396655
Variant Present in the following documents:
  • 41467_2022_34746_MOESM10_ESM.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: I135K
PubMed Link: 36031351
Variant Present in the following documents:
  • 1349-8029-62-0391-s001.pdf
View BVdb publication page



Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Publication Date: 2022-07-13

Variant appearance in text: PTEN: 404T>A; Ile135Lys
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: rs370795352
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 4
View BVdb publication page



KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: rs370795352
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 4
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: I135K
PubMed Link: 33854067
Variant Present in the following documents:
  • 41467_2021_22478_MOESM8_ESM.xlsx, sheet 3
  • 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: I135K
PubMed Link: 33106165
Variant Present in the following documents:
  • 13073_2020_787_MOESM1_ESM.xlsx, sheet 9
View BVdb publication page



Defining relative mutational difficulty to understand cancer formation.

Cell Discovery
Shan, Lin L; Yu, Jiao J; He, Zhengjin Z; Chen, Shishuang S; Liu, Mingxian M; Ding, Hongyu H; Xu, Liang L; Zhao, Jie J; Yang, Ailing A; Jiang, Hai H
Publication Date: 2020

Variant appearance in text: PTEN: I135K
PubMed Link: 32704382
Variant Present in the following documents:
  • Main text
  • 41421_2020_Article_177.pdf
View BVdb publication page



Molecular profiling-based decision for targeted therapies in IDH wild-type glioblastoma.

Neuro-Oncology Advances
Kessler, Tobias T; Berberich, Anne A; Casalini, Belen B; Drüschler, Katharina K; Ostermann, Hannah H; Dormann, Andrea A; Walter, Sandy S; Hai, Ling L; Schlesner, Matthias M; Herold-Mende, Christel C; Jungk, Christine C; Unterberg, Andreas A; Bendszus, Martin M; Sahm, Katharina K; von Deimling, Andreas A; Winkler, Frank F; Platten, Michael M; Wick, Wolfgang W; Sahm, Felix F; Wick, Antje A
Publication Date: 2020

Variant appearance in text: PTEN: I135K
PubMed Link: 32642725
Variant Present in the following documents:
  • vdz060_suppl_supplementary-table-s3.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: I135K
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.

Molecular Oncology
Bertucci, François F; Rypens, Charlotte C; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Monneur, Audrey A; Carbuccia, Nadine N; Garnier, Séverine S; Dirix, Piet P; Gonçalves, Anthony A; Vermeulen, Peter P; Debeb, Bisrat G BG; Wang, Xiaoping X; Dirix, Luc L; Ueno, Naoto T NT; Viens, Patrice P; Cristofanilli, Massimo M; Chaffanet, Max M; Birnbaum, Daniel D; Van Laere, Steven S
Publication Date: 2020-03

Variant appearance in text: PTEN: I135K
PubMed Link: 31854063
Variant Present in the following documents:
  • MOL2-14-504-s010.xlsx, sheet 1
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: PTEN: I135K
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



The Novel Phosphatidylinositol-3-Kinase (PI3K) Inhibitor Alpelisib Effectively Inhibits Growth of PTEN-Haploinsufficient Lipoma Cells.

Cancers
Kirstein, Anna S AS; Augustin, Adrien A; Penke, Melanie M; Cea, Michele M; Körner, Antje A; Kiess, Wieland W; Garten, Antje A
Publication Date: 2019-10-17

Variant appearance in text: PTEN: 404T>A; I135K
PubMed Link: 31627436
Variant Present in the following documents:
  • Main text
  • cancers-11-01586.pdf
View BVdb publication page



Targeted mutation detection in breast cancer using MammaSeq™.

Breast Cancer Research : Bcr
Smith, Nicholas G NG; Gyanchandani, Rekha R; Shah, Osama S OS; Gurda, Grzegorz T GT; Lucas, Peter C PC; Hartmaier, Ryan J RJ; Brufsky, Adam M AM; Puhalla, Shannon S; Bahreini, Amir A; Kota, Karthik K; Wald, Abigail I AI; Nikiforov, Yuri E YE; Nikiforova, Marina N MN; Oesterreich, Steffi S; Lee, Adrian V AV
Publication Date: 2019-02-08

Variant appearance in text: PTEN: I135K
PubMed Link: 30736836
Variant Present in the following documents:
  • 13058_2019_1102_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



The prognostic effects of somatic mutations in ER-positive breast cancer.

Nature Communications
Griffith, Obi L OL; Spies, Nicholas C NC; Anurag, Meenakshi M; Griffith, Malachi M; Luo, Jingqin J; Tu, Dongsheng D; Yeo, Belinda B; Kunisaki, Jason J; Miller, Christopher A CA; Krysiak, Kilannin K; Hundal, Jasreet J; Ainscough, Benjamin J BJ; Skidmore, Zachary L ZL; Campbell, Katie K; Kumar, Runjun R; Fronick, Catrina C; Cook, Lisa L; Snider, Jacqueline E JE; Davies, Sherri S; Kavuri, Shyam M SM; Chang, Eric C EC; Magrini, Vincent V; Larson, David E DE; Fulton, Robert S RS; Liu, Shuzhen S; Leung, Samuel S; Voduc, David D; Bose, Ron R; Dowsett, Mitch M; Wilson, Richard K RK; Nielsen, Torsten O TO; Mardis, Elaine R ER; Ellis, Matthew J MJ
Publication Date: 2018-09-04

Variant appearance in text: PTEN: I135K
PubMed Link: 30181556
Variant Present in the following documents:
  • 41467_2018_5914_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Genomic Evolution of Breast Cancer Metastasis and Relapse.

Cancer Cell
Yates, Lucy R LR; Knappskog, Stian S; Wedge, David D; Farmery, James H R JHR; Gonzalez, Santiago S; Martincorena, Inigo I; Alexandrov, Ludmil B LB; Van Loo, Peter P; Haugland, Hans Kristian HK; Lilleng, Peer Kaare PK; Gundem, Gunes G; Gerstung, Moritz M; Pappaemmanuil, Elli E; Gazinska, Patrycja P; Bhosle, Shriram G SG; Jones, David D; Raine, Keiran K; Mudie, Laura L; Latimer, Calli C; Sawyer, Elinor E; Desmedt, Christine C; Sotiriou, Christos C; Stratton, Michael R MR; Sieuwerts, Anieta M AM; Lynch, Andy G AG; Martens, John W JW; Richardson, Andrea L AL; Tutt, Andrew A; Lønning, Per Eystein PE; Campbell, Peter J PJ
Publication Date: 2017-08-14

Variant appearance in text: PTEN: I135K
PubMed Link: 28810143
Variant Present in the following documents:
  • mmc4.xlsx, sheet 4
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: 404T>A; I135K
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells.

The Journal Of Allergy And Clinical Immunology
Chen, Hannah H HH; Händel, Norman N; Ngeow, Joanne J; Muller, James J; Hühn, Michael M; Yang, Huei-Ting HT; Heindl, Mario M; Berbers, Roos-Marijn RM; Hegazy, Ahmed N AN; Kionke, Janina J; Yehia, Lamis L; Sack, Ulrich U; Bläser, Frank F; Rensing-Ehl, Anne A; Reifenberger, Julia J; Keith, Julia J; Travis, Simon S; Merkenschlager, Andreas A; Kiess, Wieland W; Wittekind, Christian C; Walker, Lisa L; Ehl, Stephan S; Aretz, Stefan S; Dustin, Michael L ML; Eng, Charis C; Powrie, Fiona F; Uhlig, Holm H HH
Publication Date: 2017-02

Variant appearance in text: PTEN: 404T>A; Ile135Lys
PubMed Link: 27477328
Variant Present in the following documents:
  • main.pdf
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: 404T>A; I135K
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
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: I135K
PubMed Link: 26172027
Variant Present in the following documents:
  • bjc2015190x6.xls, sheet 1
View BVdb publication page



Protein domain-level landscape of cancer-type-specific somatic mutations.

Plos Computational Biology
Yang, Fan F; Petsalaki, Evangelia E; Rolland, Thomas T; Hill, David E DE; Vidal, Marc M; Roth, Frederick P FP
Publication Date: 2015-03

Variant appearance in text: PTEN: I135K
PubMed Link: 25794154
Variant Present in the following documents:
  • pcbi.1004147.s001.xlsx, sheet 1
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: I135K
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-5.xlsx, sheet 1
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page



CanDrA: cancer-specific driver missense mutation annotation with optimized features.

Plos One
Mao, Yong Y; Chen, Han H; Liang, Han H; Meric-Bernstam, Funda F; Mills, Gordon B GB; Chen, Ken K
Publication Date: 2013

Variant appearance in text: PTEN: I135K
PubMed Link: 24205039
Variant Present in the following documents:
  • pone.0077945.s001.xls, sheet 2
  • pone.0077945.s001.xls, sheet 3
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: I135K
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page