PTEN c.959T>C ;(p.L320S)

Variant ID: 10-89720808-T-C

NM_000314.4(PTEN):c.959T>C;(p.L320S)

This variant was identified in 21 publications

View GRCh38 version.




Publications:


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: L320S
PubMed Link: 36396655
Variant Present in the following documents:
  • 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



IDH-wild type glioblastomas featuring at least 30% giant cells are characterized by frequent RB1 and NF1 alterations and hypermutation.

Acta Neuropathologica Communications
Barresi, Valeria V; Simbolo, Michele M; Mafficini, Andrea A; Martini, Maurizio M; Calicchia, Martina M; Piredda, Maria Liliana ML; Ciaparrone, Chiara C; Bonizzato, Giada G; Ammendola, Serena S; Caffo, Maria M; Pinna, Giampietro G; Sala, Francesco F; Lawlor, Rita Teresa RT; Ghimenton, Claudio C; Scarpa, Aldo A
Publication Date: 2021-12-24

Variant appearance in text: PTEN: 959delinsC; Leu320Ser
PubMed Link: 34952640
Variant Present in the following documents:
  • 40478_2021_1304_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



IDH-wild type glioblastomas featuring at least 30% giant cells are characterized by frequent RB1 and NF1 alterations and hypermutation.

Acta Neuropathologica Communications
Barresi, Valeria V; Simbolo, Michele M; Mafficini, Andrea A; Martini, Maurizio M; Calicchia, Martina M; Piredda, Maria Liliana ML; Ciaparrone, Chiara C; Bonizzato, Giada G; Ammendola, Serena S; Caffo, Maria M; Pinna, Giampietro G; Sala, Francesco F; Lawlor, Rita Teresa RT; Ghimenton, Claudio C; Scarpa, Aldo A
Publication Date: 2021-12-24

Variant appearance in text: PTEN: 959delinsC; Leu320Ser
PubMed Link: 34952640
Variant Present in the following documents:
  • 40478_2021_1304_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Publication Date: 2021

Variant appearance in text: PTEN: L320S
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



High Incidence of C797S Mutation in Patients With Long Treatment History of EGFR Tyrosine Kinase Inhibitors Including Osimertinib.

Jto Clinical And Research Reports
Osoegawa, Atsushi A; Yamaguchi, Masafumi M; Nakamura, Tomomi T; Morinaga, Ryotaro R; Tanaka, Kentaro K; Kashiwabara, Kosuke K; Miura, Takashi T; Suetsugu, Takayuki T; Harada, Taishi T; Asoh, Tatsuma T; Taguchi, Kenichi K; Nabeshima, Kazuki K; Kishimoto, Junji J; Sakai, Kazuko K; Nishio, Kazuto K; Sugio, Kenji K
Publication Date: 2021-07

Variant appearance in text: PTEN: 959T>C; Leu320Ser
PubMed Link: 34590037
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Targeting the Ubiquitin System in Glioblastoma.

Frontiers In Oncology
Scholz, Nico N; Kurian, Kathreena M KM; Siebzehnrubl, Florian A FA; Licchesi, Julien D F JDF
Publication Date: 2020

Variant appearance in text: PTEN: L320S
PubMed Link: 33324551
Variant Present in the following documents:
  • Main text
  • fonc-10-574011.pdf
View BVdb publication page



Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups.

Bmc Medical Genomics
Miller, Eirwen M EM; Patterson, Nicole E NE; Gressel, Gregory M GM; Karabakhtsian, Rouzan G RG; Bejerano-Sagie, Michal M; Ravi, Nivedita N; Maslov, Alexander A; Quispe-Tintaya, Wilber W; Wang, Tao T; Lin, Juan J; Smith, Harriet O HO; Goldberg, Gary L GL; Kuo, Dennis Y S DYS; Montagna, Cristina C
Publication Date: 2020-11-30

Variant appearance in text: PTEN: L320S
PubMed Link: 33256706
Variant Present in the following documents:
  • 12920_2020_824_MOESM5_ESM.xlsx, sheet 1
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: L320S
PubMed Link: 33106165
Variant Present in the following documents:
  • 13073_2020_787_MOESM1_ESM.xlsx, sheet 9
View BVdb publication page



Role of Ubiquitination in PTEN Cellular Homeostasis and Its Implications in GB Drug Resistance.

Frontiers In Oncology
Xia, Qin Q; Ali, Sakhawat S; Liu, Liqun L; Li, Yang Y; Liu, Xuefeng X; Zhang, Lingqiang L; Dong, Lei L
Publication Date: 2020

Variant appearance in text: PTEN: L320S
PubMed Link: 32984016
Variant Present in the following documents:
  • Main text
  • fonc-10-01569.pdf
View BVdb publication page



Epigenetic regulation of cancer stem cell and tumorigenesis.

Advances In Cancer Research
Zhu, Kezhou K; Xie, Victoria V; Huang, Suyun S
Publication Date: 2020

Variant appearance in text: PTEN: L320S
PubMed Link: 32723561
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive routine diagnostic screening to identify predictive mutations, gene amplifications, and microsatellite instability in FFPE tumor material.

Bmc Cancer
Steeghs, Elisabeth M P EMP; Kroeze, Leonie I LI; Tops, Bastiaan B J BBJ; van Kempen, Leon C LC; Ter Elst, Arja A; Kastner-van Raaij, Annemiek W M AWM; Hendriks-Cornelissen, Sandra J B SJB; Hermsen, Mandy J W MJW; Jansen, Erik A M EAM; Nederlof, Petra M PM; Schuuring, Ed E; Ligtenberg, Marjolijn J L MJL; Eijkelenboom, Astrid A
Publication Date: 2020-04-07

Variant appearance in text: PTEN: 959T>C; Leu320Ser
PubMed Link: 32264863
Variant Present in the following documents:
  • 12885_2020_6785_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: PTEN: L320S
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



Multifaceted Regulation of PTEN Subcellular Distributions and Biological Functions.

Cancers
Liu, Tian T; Wang, Yiwei Y; Wang, Yubing Y; Chan, Andrew M AM
Publication Date: 2019-08-26

Variant appearance in text: PTEN: L320S
PubMed Link: 31454965
Variant Present in the following documents:
  • Main text
  • cancers-11-01247.pdf
View BVdb publication page



A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay.

Human Genome Variation
Ueno, Yuichi Y; Enokizono, Takashi T; Fukushima, Hiroko H; Ohto, Tatsuyuki T; Imagawa, Kazuo K; Tanaka, Mai M; Sakai, Aiko A; Suzuki, Hisato H; Uehara, Tomoko T; Takenouchi, Toshiki T; Kosaki, Kenjiro K; Takada, Hidetoshi H
Publication Date: 2019

Variant appearance in text: PTEN: 959T>C; Leu320Ser
PubMed Link: 31149344
Variant Present in the following documents:
  • Main text
  • 41439_2019_Article_56.pdf
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: L320S
PubMed Link: 30224629
Variant Present in the following documents:
  • 41467_2018_6162_MOESM13_ESM.xlsx, sheet 1
View BVdb publication page



Renal Cell Carcinoma: Molecular Aspects.

Indian Journal Of Clinical Biochemistry : Ijcb
Kumar, Aman A; Kumari, Niti N; Gupta, Vinny V; Prasad, Rajendra R
Publication Date: 2018-07

Variant appearance in text: PTEN: Leu320Ser
PubMed Link: 30072823
Variant Present in the following documents:
  • Main text
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: 959T>C; L320S
PubMed Link: 29604063
Variant Present in the following documents:
  • PATH-245-283-s023.xlsx, sheet 1
  • PATH-245-283-s021.xlsx, sheet 1
View BVdb publication page



Scalable whole-exome sequencing of cell-free DNA reveals high concordance with metastatic tumors.

Nature Communications
Adalsteinsson, Viktor A VA; Ha, Gavin G; Freeman, Samuel S SS; Choudhury, Atish D AD; Stover, Daniel G DG; Parsons, Heather A HA; Gydush, Gregory G; Reed, Sarah C SC; Rotem, Denisse D; Rhoades, Justin J; Loginov, Denis D; Livitz, Dimitri D; Rosebrock, Daniel D; Leshchiner, Ignaty I; Kim, Jaegil J; Stewart, Chip C; Rosenberg, Mara M; Francis, Joshua M JM; Zhang, Cheng-Zhong CZ; Cohen, Ofir O; Oh, Coyin C; Ding, Huiming H; Polak, Paz P; Lloyd, Max M; Mahmud, Sairah S; Helvie, Karla K; Merrill, Margaret S MS; Santiago, Rebecca A RA; O'Connor, Edward P EP; Jeong, Seong H SH; Leeson, Rachel R; Barry, Rachel M RM; Kramkowski, Joseph F JF; Zhang, Zhenwei Z; Polacek, Laura L; Lohr, Jens G JG; Schleicher, Molly M; Lipscomb, Emily E; Saltzman, Andrea A; Oliver, Nelly M NM; Marini, Lori L; Waks, Adrienne G AG; Harshman, Lauren C LC; Tolaney, Sara M SM; Van Allen, Eliezer M EM; Winer, Eric P EP; Lin, Nancy U NU; Nakabayashi, Mari M; Taplin, Mary-Ellen ME; Johannessen, Cory M CM; Garraway, Levi A LA; Golub, Todd R TR; Boehm, Jesse S JS; Wagle, Nikhil N; Getz, Gad G; Love, J Christopher JC; Meyerson, Matthew M
Publication Date: 2017-11-06

Variant appearance in text: PTEN: L320S
PubMed Link: 29109393
Variant Present in the following documents:
  • 41467_2017_965_MOESM7_ESM.xlsx, sheet 1
  • 41467_2017_965_MOESM7_ESM.xlsx, sheet 6
  • 41467_2017_965_MOESM7_ESM.xlsx, sheet 5
View BVdb publication page



Characterization of PTEN mutations in brain cancer reveals that pten mono-ubiquitination promotes protein stability and nuclear localization.

Oncogene
Yang, Jr-M JM; Schiapparelli, P P; Nguyen, H-N HN; Igarashi, A A; Zhang, Q Q; Abbadi, S S; Amzel, L M LM; Sesaki, H H; Quiñones-Hinojosa, A A; Iijima, M M
Publication Date: 2017-06-29

Variant appearance in text: PTEN: L320S
PubMed Link: 28263967
Variant Present in the following documents:
  • Main text
  • onc2016493a.pdf
View BVdb publication page



Wide spetcrum mutational analysis of metastatic renal cell cancer: a retrospective next generation sequencing approach.

Oncotarget
Fiorentino, Michelangelo M; Gruppioni, Elisa E; Massari, Francesco F; Giunchi, Francesca F; Altimari, Annalisa A; Ciccarese, Chiara C; Bimbatti, Davide D; Scarpa, Aldo A; Iacovelli, Roberto R; Porta, Camillo C; Virinder, Sarhadi S; Tortora, Giampaolo G; Artibani, Walter W; Schiavina, Riccardo R; Ardizzoni, Andrea A; Brunelli, Matteo M; Knuutila, Sakari S; Martignoni, Guido G
Publication Date: 2017-01-31

Variant appearance in text: PTEN: 959T>C; L320S
PubMed Link: 27741505
Variant Present in the following documents:
  • Main text
  • oncotarget-08-7328.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: 959T>C; L320S
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



KLLN epigenotype-phenotype associations in Cowden syndrome.

European Journal Of Human Genetics : Ejhg
Nizialek, Emily A EA; Mester, Jessica L JL; Dhiman, Vineet K VK; Smiraglia, Dominic J DJ; Eng, Charis C
Publication Date: 2015-11

Variant appearance in text: PTEN: 959T>C; Leu320Ser
PubMed Link: 25669429
Variant Present in the following documents:
View BVdb publication page