PTEN c.259C>T ;(p.Q87*)

Variant ID: 10-89692775-C-T

NM_000314.4(PTEN):c.259C>T;(p.Q87*)

This variant was identified in 27 publications

View GRCh38 version.




Publications:


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: 259C>T; Gln87Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Genomic landscape of the immunogenicity regulation in skin melanomas with diverse tumor mutation burden.

Frontiers In Immunology
Georgoulias, George G; Zaravinos, Apostolos A
Publication Date: 2022

Variant appearance in text: PTEN: Q87*
PubMed Link: 36389735
Variant Present in the following documents:
  • Table_7.xlsx, sheet 13
View BVdb publication page



Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2022-09

Variant appearance in text: PTEN: 259C>T; Q87*
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications
Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX
Publication Date: 2022-06-15

Variant appearance in text: PTEN: Q87*
PubMed Link: 35705558
Variant Present in the following documents:
  • 41467_2022_30496_MOESM2_ESM.xls, sheet 1
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: 259C>T
PubMed Link: 35468810
Variant Present in the following documents:
  • 12920_2022_1235_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Clonal relationship and directionality of progression of synchronous endometrial and ovarian carcinomas in patients with DNA mismatch repair-deficiency associated syndromes.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Moukarzel, Lea A LA; Da Cruz Paula, Arnaud A; Ferrando, Lorenzo L; Hoang, Timothy T; Sebastiao, Ana Paula Martins APM; Pareja, Fresia F; Park, Kay J KJ; Jungbluth, Achim A AA; Capella, Gabriel G; Pineda, Marta M; Levin, Jeffrey D JD; Abu-Rustum, Nadeem R NR; Ellenson, Lora H LH; Bel, August Vidal AV; Reis-Filho, Jorge S JS; Matias-Guiu, Xavier X; Cadoo, Karen K; Stadler, Zsofia K ZK; Weigelt, Britta B
Publication Date: 2021-05

Variant appearance in text: PTEN: Q87*
PubMed Link: 33328602
Variant Present in the following documents:
  • Main text
  • nihms-1642406.pdf
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: PTEN: 259C>T; Q87*
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.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: Q87*
PubMed Link: 33106165
Variant Present in the following documents:
  • 13073_2020_787_MOESM1_ESM.xlsx, sheet 9
View BVdb publication page



Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging
Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D
Publication Date: 2020-07-07

Variant appearance in text: PTEN: 259C>T
PubMed Link: 32639949
Variant Present in the following documents:
  • aging-12-103115-s013..xlsx, sheet 1
View BVdb publication page



The Splicing Factor SF2 Is Critical for Hyperproliferation and Survival in a TORC1-Dependent Model of Early Tumorigenesis in Drosophila.

International Journal Of Molecular Sciences
Parniewska, Malgorzata Maria MM; Stocker, Hugo H
Publication Date: 2020-06-24

Variant appearance in text: PTEN: Q87X
PubMed Link: 32599686
Variant Present in the following documents:
  • Main text
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: Q87*
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



Antagonistic regulation by insulin-like peptide and activin ensures the elaboration of appropriate dendritic field sizes of amacrine neurons.

Elife
Luo, Jiangnan J; Ting, Chun-Yuan CY; Li, Yan Y; McQueen, Philip P; Lin, Tzu-Yang TY; Hsu, Chao-Ping CP; Lee, Chi-Hon CH
Publication Date: 2020-03-16

Variant appearance in text: PTEN: Q87X
PubMed Link: 32175842
Variant Present in the following documents:
  • Main text
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: 259C>T; Q87*
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Lysosomal size matters.

Traffic (Copenhagen, Denmark)
de Araujo, Mariana E G MEG; Liebscher, Gudrun G; Hess, Michael W MW; Huber, Lukas A LA
Publication Date: 2020-01

Variant appearance in text: PTEN: Q87X
PubMed Link: 31808235
Variant Present in the following documents:
  • Main text
  • TRA-21-60.pdf
View BVdb publication page



FoxO restricts growth and differentiation of cells with elevated TORC1 activity under nutrient restriction.

Plos Genetics
Nowak, Katarzyna K; Gupta, Avantika A; Stocker, Hugo H
Publication Date: 2018-04

Variant appearance in text: PTEN: Q87X
PubMed Link: 29677182
Variant Present in the following documents:
  • Main text
  • pgen.1007347.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: 259C>T; Q87*
PubMed Link: 29604063
Variant Present in the following documents:
  • PATH-245-283-s021.xlsx, sheet 1
View BVdb publication page



Racial Disparities in the Molecular Landscape of Cancer.

Anticancer Research
Heath, Elisabeth I EI; Lynce, Filipa F; Xiu, Joanne J; Ellerbrock, Angela A; Reddy, Sandeep K SK; Obeid, Elias E; Liu, Stephen V SV; Bollig-Fischer, Aliccia A; Separovic, Duska D; Vanderwalde, Ari A
Publication Date: 2018-04

Variant appearance in text: PTEN: Q87X
PubMed Link: 29599344
Variant Present in the following documents:
  • Main text
View BVdb publication page



NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.

Molecular Oncology
Cirenajwis, Helena H; Lauss, Martin M; Ekedahl, Henrik H; Törngren, Therese T; Kvist, Anders A; Saal, Lao H LH; Olsson, Håkan H; Staaf, Johan J; Carneiro, Ana A; Ingvar, Christian C; Harbst, Katja K; Hayward, Nicholas K NK; Jönsson, Göran G
Publication Date: 2017-04

Variant appearance in text: PTEN: 259C>T; Q87*
PubMed Link: 28267273
Variant Present in the following documents:
  • MOL2-11-438-s003.xls, 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: 259C>T; Q87*
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Genomic landscape of salivary gland tumors.

Oncotarget
Kato, Shumei S; Elkin, Sheryl K SK; Schwaederle, Maria M; Tomson, Brett N BN; Helsten, Teresa T; Carter, Jennifer L JL; Kurzrock, Razelle R
Publication Date: 2015-09-22

Variant appearance in text: PTEN: Q87*
PubMed Link: 26247885
Variant Present in the following documents:
  • oncotarget-06-25631-s002.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: Q87*
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



Nutrient restriction enhances the proliferative potential of cells lacking the tumor suppressor PTEN in mitotic tissues.

Elife
Nowak, Katarzyna K; Seisenbacher, Gerhard G; Hafen, Ernst E; Stocker, Hugo H
Publication Date: 2013-07-09

Variant appearance in text: PTEN: Q87X
PubMed Link: 23853709
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 259C>T; Gln87*
PubMed Link: 23528559
Variant Present in the following documents:
  • supp_ddt131_ddt131supp.pdf
View BVdb publication page



Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers.

Journal Of Medical Genetics
Lachlan, K L KL; Lucassen, A M AM; Bunyan, D D; Temple, I K IK
Publication Date: 2007-09

Variant appearance in text: PTEN: Gln87X
PubMed Link: 17526800
Variant Present in the following documents:
  • Main text
View BVdb publication page



The hypoxia-induced paralogs Scylla and Charybdis inhibit growth by down-regulating S6K activity upstream of TSC in Drosophila.

Genes & Development
Reiling, Jan H JH; Hafen, Ernst E
Publication Date: 2004-12-01

Variant appearance in text: PTEN: Q87X
PubMed Link: 15545626
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Drosophila forkhead transcription factor FOXO mediates the reduction in cell number associated with reduced insulin signaling.

Journal Of Biology
Jünger, Martin A MA; Rintelen, Felix F; Stocker, Hugo H; Wasserman, Jonathan D JD; Végh, Mátyás M; Radimerski, Thomas T; Greenberg, Michael E ME; Hafen, Ernst E
Publication Date: 2003

Variant appearance in text: PTEN: Q87X
PubMed Link: 12908874
Variant Present in the following documents:
  • Main text
View BVdb publication page



Lethality of Drosophila lacking TSC tumor suppressor function rescued by reducing dS6K signaling.

Genes & Development
Radimerski, Thomas T; Montagne, Jacques J; Hemmings-Mieszczak, Maja M; Thomas, George G
Publication Date: 2002-10-15

Variant appearance in text: PTEN: Q87X
PubMed Link: 12381661
Variant Present in the following documents:
  • Main text
View BVdb publication page