PTEN c.385G>T ;(p.G129*)

Variant ID: 10-89692901-G-T

NM_000314.4(PTEN):c.385G>T;(p.G129*)

This variant was identified in 21 publications

View GRCh38 version.




Publications:


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: rs786204929
PubMed Link: 36561320
Variant Present in the following documents:
  • Table2.xlsx, sheet 6
View BVdb publication page



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: 385G>T; G129*
PubMed Link: 36333792
Variant Present in the following documents:
  • 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Heterogeneity of the cancer cell line metabolic landscape.

Molecular Systems Biology
Shorthouse, David D; Bradley, Jenna J; Critchlow, Susan E SE; Bendtsen, Claus C; Hall, Benjamin A BA
Publication Date: 2022-11

Variant appearance in text: PTEN: 385G>T; Gly129Ter
PubMed Link: 36321551
Variant Present in the following documents:
  • MSB-18-e11006-s010.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: G129*
PubMed Link: 35705558
Variant Present in the following documents:
  • 41467_2022_30496_MOESM2_ESM.xls, sheet 1
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: rs786204929
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
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: 385G>T; G129*
PubMed Link: 33704917
Variant Present in the following documents:
  • TCA-12-1271-s003.xls, sheet 1
View BVdb publication page



Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.

Jama Oncology
Cobain, Erin F EF; Wu, Yi-Mi YM; Vats, Pankaj P; Chugh, Rashmi R; Worden, Francis F; Smith, David C DC; Schuetze, Scott M SM; Zalupski, Mark M MM; Sahai, Vaibhav V; Alva, Ajjai A; Schott, Anne F AF; Caram, Megan E V MEV; Hayes, Daniel F DF; Stoffel, Elena M EM; Jacobs, Michelle F MF; Kumar-Sinha, Chandan C; Cao, Xuhong X; Wang, Rui R; Lucas, David D; Ning, Yu Y; Rabban, Erica E; Bell, Janice J; Camelo-Piragua, Sandra S; Udager, Aaron M AM; Cieslik, Marcin M; Lonigro, Robert J RJ; Kunju, Lakshmi P LP; Robinson, Dan R DR; Talpaz, Moshe M; Chinnaiyan, Arul M AM
Publication Date: 2021-04-01

Variant appearance in text: PTEN: G129*
PubMed Link: 33630025
Variant Present in the following documents:
  • jamaoncol-e207987-s004.xlsx, sheet 2
View BVdb publication page



Characterization of the genomic landscape and actionable mutations in Chinese breast cancers by clinical sequencing.

Nature Communications
Lang, Guan-Tian GT; Jiang, Yi-Zhou YZ; Shi, Jin-Xiu JX; Yang, Fan F; Li, Xiao-Guang XG; Pei, Yu-Chen YC; Zhang, Chen-Hui CH; Ma, Ding D; Xiao, Yi Y; Hu, Peng-Chen PC; Wang, Hai H; Yang, Yun-Song YS; Guo, Lin-Wei LW; Lu, Xun-Xi XX; Xue, Meng-Zhu MZ; Wang, Peng P; Cao, A-Yong AY; Ling, Hong H; Wang, Zhong-Hua ZH; Yu, Ke-Da KD; Di, Gen-Hong GH; Li, Da-Qiang DQ; Wang, Yun-Jin YJ; Yu, Ying Y; Shi, Le-Ming LM; Hu, Xin X; Huang, Wei W; Shao, Zhi-Ming ZM
Publication Date: 2020-11-10

Variant appearance in text: PTEN: G129*
PubMed Link: 33173047
Variant Present in the following documents:
  • 41467_2020_19342_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Usefulness of a novel device to divide core needle biopsy specimens in a spatially matched fashion.

Scientific Reports
Shiraishi, Takumi T; Inui, Shogo S; Inoue, Yuta Y; Saito, Yumiko Y; Taga, Hideto H; Kaneko, Masatomo M; Tsuji, Keisuke K; Ueda, Saya S; Ueda, Takashi T; Matsugasumi, Toru T; Taniguchi, Hidefumi H; Ueno, Akihisa A; Yamada, Takeshi T; Yamada, Yasuhiro Y; Iwata, Tsuyoshi T; Fujihara, Atsuko A; Hongo, Fumiya F; Ukimura, Osamu O
Publication Date: 2020-10-13

Variant appearance in text: rs786204929
PubMed Link: 33051506
Variant Present in the following documents:
  • 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



BRAF status modulates Interelukin-8 expression through a CHOP-dependent mechanism in colorectal cancer.

Communications Biology
Conciatori, Fabiana F; Bazzichetto, Chiara C; Amoreo, Carla Azzurra CA; Sperduti, Isabella I; Donzelli, Sara S; Diodoro, Maria Grazia MG; Buglioni, Simonetta S; Falcone, Italia I; Shirasawa, Senji S; Blandino, Giovanni G; Ferretti, Gianluigi G; Cognetti, Francesco F; Milella, Michele M; Ciuffreda, Ludovica L
Publication Date: 2020-10-01

Variant appearance in text: PTEN: G129*
PubMed Link: 33004975
Variant Present in the following documents:
  • Main text
  • 42003_2020_Article_1263.pdf
  • 42003_2020_1263_MOESM1_ESM.pdf
View BVdb publication page



NUDT7 Loss Promotes Kras CRC Development.

Cancers
Song, Jinsoo J; Park, Sujeong S; Oh, Jinjoo J; Kim, Deokha D; Ryu, Ji Hyun JH; Park, Won Cheol WC; Baek, In-Jeoung IJ; Cheng, Xi X; Lu, Xin X; Jin, Eun-Jung EJ
Publication Date: 2020-03-02

Variant appearance in text: PTEN: G129X
PubMed Link: 32131398
Variant Present in the following documents:
  • cancers-12-00576-s001.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: 385G>T; G129*
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



False-negative errors in next-generation sequencing contribute substantially to inconsistency of mutation databases.

Plos One
Kim, Young-Ho YH; Song, Yura Y; Kim, Jong-Kwang JK; Kim, Tae-Min TM; Sim, Hye Won HW; Kim, Hyung-Lae HL; Jang, Hyonchol H; Kim, Young-Woo YW; Hong, Kyeong-Man KM
Publication Date: 2019

Variant appearance in text: PTEN: 385G>T; G129*
PubMed Link: 31513681
Variant Present in the following documents:
  • pone.0222535.s006.xlsx, sheet 1
View BVdb publication page



Sequencing of intraductal biopsies is feasible and potentially impacts clinical management of patients with indeterminate biliary stricture and cholangiocarcinoma.

Clinical And Translational Gastroenterology
Bankov, Katrin K; Döring, Claudia C; Schneider, Markus M; Hartmann, Sylvia S; Winkelmann, Ria R; Albert, Joerg G JG; Bechstein, Wolf Otto WO; Zeuzem, Stefan S; Hansmann, Martin Leo ML; Peveling-Oberhag, Jan J; Walter, Dirk D
Publication Date: 2018-04-30

Variant appearance in text: PTEN: Gly129Ter
PubMed Link: 29712892
Variant Present in the following documents:
  • Main text
  • 41424_2018_15_MOESM1_ESM.xlsx, sheet 5
  • 41424_2018_Article_15.pdf
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: 385G>T; G129*
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Multi-omics of 34 colorectal cancer cell lines - a resource for biomedical studies.

Molecular Cancer
Berg, Kaja C G KCG; Eide, Peter W PW; Eilertsen, Ina A IA; Johannessen, Bjarne B; Bruun, Jarle J; Danielsen, Stine A SA; Bjørnslett, Merete M; Meza-Zepeda, Leonardo A LA; Eknæs, Mette M; Lind, Guro E GE; Myklebost, Ola O; Skotheim, Rolf I RI; Sveen, Anita A; Lothe, Ragnhild A RA
Publication Date: 2017-07-06

Variant appearance in text: PTEN: G129X
PubMed Link: 28683746
Variant Present in the following documents:
  • Main text
  • 12943_2017_Article_691.pdf
  • 12943_2017_691_MOESM1_ESM.xlsx, sheet 5
View BVdb publication page



PTEN status is a crucial determinant of the functional outcome of combined MEK and mTOR inhibition in cancer.

Scientific Reports
Milella, Michele M; Falcone, Italia I; Conciatori, Fabiana F; Matteoni, Silvia S; Sacconi, Andrea A; De Luca, Teresa T; Bazzichetto, Chiara C; Corbo, Vincenzo V; Simbolo, Michele M; Sperduti, Isabella I; Benfante, Antonina A; Del Curatolo, Anais A; Cesta Incani, Ursula U; Malusa, Federico F; Eramo, Adriana A; Sette, Giovanni G; Scarpa, Aldo A; Konopleva, Marina M; Andreeff, Michael M; McCubrey, James Andrew JA; Blandino, Giovanni G; Todaro, Matilde M; Stassi, Giorgio G; De Maria, Ruggero R; Cognetti, Francesco F; Del Bufalo, Donatella D; Ciuffreda, Ludovica L
Publication Date: 2017-02-21

Variant appearance in text: PTEN: Gly129Ter
PubMed Link: 28220839
Variant Present in the following documents:
  • Main text
  • srep43013.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: 385G>T; G129*
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 3
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: G129*
PubMed Link: 26172027
Variant Present in the following documents:
  • bjc2015190x6.xls, sheet 1
View BVdb publication page



Discovery of novel AKT inhibitors with enhanced anti-tumor effects in combination with the MEK inhibitor.

Plos One
Dumble, Melissa M; Crouthamel, Ming-Chih MC; Zhang, Shu-Yun SY; Schaber, Michael M; Levy, Dana D; Robell, Kimberly K; Liu, Qi Q; Figueroa, David J DJ; Minthorn, Elisabeth A EA; Seefeld, Mark A MA; Rouse, Meagan B MB; Rabindran, Sridhar K SK; Heerding, Dirk A DA; Kumar, Rakesh R
Publication Date: 2014

Variant appearance in text: PTEN: G129*
PubMed Link: 24978597
Variant Present in the following documents:
  • pone.0100880.s006.xlsx, sheet 1
View BVdb publication page



Mutation analysis of 24 known cancer genes in the NCI-60 cell line set.

Molecular Cancer Therapeutics
Ikediobi, Ogechi N ON; Davies, Helen H; Bignell, Graham G; Edkins, Sarah S; Stevens, Claire C; O'Meara, Sarah S; Santarius, Thomas T; Avis, Tim T; Barthorpe, Syd S; Brackenbury, Lisa L; Buck, Gemma G; Butler, Adam A; Clements, Jody J; Cole, Jennifer J; Dicks, Ed E; Forbes, Simon S; Gray, Kristian K; Halliday, Kelly K; Harrison, Rachel R; Hills, Katy K; Hinton, Jonathan J; Hunter, Chris C; Jenkinson, Andy A; Jones, David D; Kosmidou, Vivienne V; Lugg, Richard R; Menzies, Andrew A; Mironenko, Tatiana T; Parker, Adrian A; Perry, Janet J; Raine, Keiran K; Richardson, David D; Shepherd, Rebecca R; Small, Alex A; Smith, Raffaella R; Solomon, Helen H; Stephens, Philip P; Teague, Jon J; Tofts, Calli C; Varian, Jennifer J; Webb, Tony T; West, Sofie S; Widaa, Sara S; Yates, Andy A; Reinhold, William W; Weinstein, John N JN; Stratton, Michael R MR; Futreal, P Andrew PA; Wooster, Richard R
Publication Date: 2006-11

Variant appearance in text: PTEN: 385G>T; G129X
PubMed Link: 17088437
Variant Present in the following documents:
  • Main text
View BVdb publication page