PTEN c.59G>A ;(p.G20E)

Variant ID: 10-89624285-G-A

NM_000314.4(PTEN):c.59G>A;(p.G20E)

This variant was identified in 20 publications

View GRCh38 version.




Publications:


ESR1 gene amplification and MAP3K mutations are selected during adjuvant endocrine therapies in relapsing Hormone Receptor-positive, HER2-negative breast cancer (HR+ HER2- BC).

Plos Genetics
Ferrando, Lorenzo L; Vingiani, Andrea A; Garuti, Anna A; Vernieri, Claudio C; Belfiore, Antonino A; Agnelli, Luca L; Dagrada, Gianpaolo G; Ivanoiu, Diana D; Bonizzi, Giuseppina G; Munzone, Elisabetta E; Lippolis, Luana L; Dameri, Martina M; Ravera, Francesco F; Colleoni, Marco M; Viale, Giuseppe G; Magnani, Luca L; Ballestrero, Alberto A; Zoppoli, Gabriele G; Pruneri, Giancarlo G
Publication Date: 2023-01-03

Variant appearance in text: rs1064795967
PubMed Link: 36595552
Variant Present in the following documents:
  • pgen.1010563.s004.xlsx, sheet 1
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: G20E
PubMed Link: 36561320
Variant Present in the following documents:
  • Table2.xlsx, sheet 6
  • Table3.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: G20E
PubMed Link: 35705558
Variant Present in the following documents:
  • 41467_2022_30496_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Mechanism of activation and the rewired network: New drug design concepts.

Medicinal Research Reviews
Nussinov, Ruth R; Zhang, Mingzhen M; Maloney, Ryan R; Tsai, Chung-Jung CJ; Yavuz, Bengi Ruken BR; Tuncbag, Nurcan N; Jang, Hyunbum H
Publication Date: 2022-03

Variant appearance in text: PTEN: G20E
PubMed Link: 34693559
Variant Present in the following documents:
  • Main text
  • MED-42-770.pdf
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: G20E
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



Integrated genomics point to immune vulnerabilities in pleural mesothelioma.

Scientific Reports
Nastase, Anca A; Mandal, Amit A; Lu, Shir Kiong SK; Anbunathan, Hima H; Morris-Rosendahl, Deborah D; Zhang, Yu Zhi YZ; Sun, Xiao-Ming XM; Gennatas, Spyridon S; Rintoul, Robert C RC; Edwards, Matthew M; Bowman, Alex A; Chernova, Tatyana T; Benepal, Tim T; Lim, Eric E; Taylor, Anthony Newman AN; Nicholson, Andrew G AG; Popat, Sanjay S; Willis, Anne E AE; MacFarlane, Marion M; Lathrop, Mark M; Bowcock, Anne M AM; Moffatt, Miriam F MF; Cookson, William O C M WOCM
Publication Date: 2021-09-27

Variant appearance in text: PTEN: 59G>A; Gly20Glu
PubMed Link: 34580349
Variant Present in the following documents:
  • 41598_2021_98414_MOESM2_ESM.xlsx, sheet 4
View BVdb publication page



Phosphorylation and Driver Mutations in PI3Kα and PTEN Autoinhibition.

Molecular Cancer Research : Mcr
Nussinov, Ruth R; Zhang, Mingzhen M; Tsai, Chung-Jung CJ; Jang, Hyunbum H
Publication Date: 2021-04

Variant appearance in text: PTEN: G20E
PubMed Link: 33288731
Variant Present in the following documents:
  • Main text
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: G20E
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



The Impact of Genetic Variants on PTEN Molecular Functions and Cellular Phenotypes.

Cold Spring Harbor Perspectives In Medicine
Hasle, Nicholas N; Matreyek, Kenneth A KA; Fowler, Douglas M DM
Publication Date: 2019-11-01

Variant appearance in text: PTEN: G20E
PubMed Link: 31451538
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of translationally controlled tumor protein in promotion of DNA homologous recombination repair in cancer cells by affinity proteomics.

Oncogene
Li, Y Y; Sun, H H; Zhang, C C; Liu, J J; Zhang, H H; Fan, F F; Everley, R A RA; Ning, X X; Sun, Y Y; Hu, J J; Liu, J J; Zhang, J J; Ye, W W; Qiu, X X; Dai, S S; Liu, B B; Xu, H H; Fu, S S; Gygi, S P SP; Zhou, C C
Publication Date: 2017-12-14

Variant appearance in text: PTEN: G20E
PubMed Link: 28846114
Variant Present in the following documents:
  • onc2017289a.pdf
View BVdb publication page



An extensive molecular cytogenetic characterization in high-risk chronic lymphocytic leukemia identifies karyotype aberrations and TP53 disruption as predictors of outcome and chemorefractoriness.

Oncotarget
Rigolin, Gian Matteo GM; Formigaro, Luca L; Cavallari, Maurizio M; Quaglia, Francesca Maria FM; Lista, Enrico E; Urso, Antonio A; Guardalben, Emanuele E; Martinelli, Sara S; Saccenti, Elena E; Bassi, Cristian C; Lupini, Laura L; Bardi, Maria Antonella MA; Volta, Eleonora E; Tammiso, Elisa E; Melandri, Aurora A; Negrini, Massimo M; Cavazzini, Francesco F; Cuneo, Antonio A
Publication Date: 2017-04-25

Variant appearance in text: PTEN: G20E
PubMed Link: 28427204
Variant Present in the following documents:
  • oncotarget-08-28008-s003.xlsx, sheet 1
View BVdb publication page



Extensive next-generation sequencing analysis in chronic lymphocytic leukemia at diagnosis: clinical and biological correlations.

Journal Of Hematology & Oncology
Rigolin, Gian Matteo GM; Saccenti, Elena E; Bassi, Cristian C; Lupini, Laura L; Quaglia, Francesca Maria FM; Cavallari, Maurizio M; Martinelli, Sara S; Formigaro, Luca L; Lista, Enrico E; Bardi, Maria Antonella MA; Volta, Eleonora E; Tammiso, Elisa E; Melandri, Aurora A; Urso, Antonio A; Cavazzini, Francesco F; Negrini, Massimo M; Cuneo, Antonio A
Publication Date: 2016-09-15

Variant appearance in text: PTEN: G20E
PubMed Link: 27633522
Variant Present in the following documents:
  • 13045_2016_320_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



The important role of the receptor for activated C kinase 1 (RACK1) in nasopharyngeal carcinoma progression.

Journal Of Translational Medicine
Peng, Hong H; Gong, Ping-Gui PG; Li, Jin-Bang JB; Cai, Long-Mei LM; Yang, Le L; Liu, Yun-Yi YY; Yao, Kai-Tai KT; Li, Xin X
Publication Date: 2016-05-11

Variant appearance in text: PTEN: G20E
PubMed Link: 27170279
Variant Present in the following documents:
  • 12967_2016_Article_885.pdf
View BVdb publication page



Proteomics-Based Analysis of Protein Complexes in Pluripotent Stem Cells and Cancer Biology.

International Journal Of Molecular Sciences
Sudhir, Putty-Reddy PR; Chen, Chung-Hsuan CH
Publication Date: 2016-03-22

Variant appearance in text: PTEN: G20E
PubMed Link: 27011181
Variant Present in the following documents:
  • Main text
  • ijms-17-00432.pdf
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: PTEN: G20E
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Engineering PTEN function: membrane association and activity.

Methods (San Diego, Calif.)
Yang, Jr-Ming JM; Nguyen, Hoai-Nghia HN; Sesaki, Hiromi H; Devreotes, Peter N PN; Iijima, Miho M
Publication Date: 2015-05

Variant appearance in text: PTEN: G20E
PubMed Link: 25448479
Variant Present in the following documents:
  • Main text
View BVdb publication page



A new class of cancer-associated PTEN mutations defined by membrane translocation defects.

Oncogene
Nguyen, H-N HN; Yang, J-M JM; Rahdar, M M; Keniry, M M; Swaney, K F KF; Parsons, R R; Park, B H BH; Sesaki, H H; Devreotes, P N PN; Iijima, M M
Publication Date: 2015-07

Variant appearance in text: PTEN: G20E
PubMed Link: 25263454
Variant Present in the following documents:
  • Main text
  • nihms619140.pdf
  • NIHMS619140-supplement-2.pdf
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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: G20E
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page



Protein interactions of phosphatase and tensin homologue (PTEN) and its cancer-associated G20E mutant compared by using stable isotope labeling by amino acids in cell culture-based parallel affinity purification.

The Journal Of Biological Chemistry
Gunaratne, Jayantha J; Goh, Mei Xian MX; Swa, Hannah Lee Foon HL; Lee, Fen Yee FY; Sanford, Emma E; Wong, Loke Meng LM; Hogue, Kelly A KA; Blackstock, Walter P WP; Okumura, Koichi K
Publication Date: 2011-05-20

Variant appearance in text: PTEN: G20E
PubMed Link: 21454687
Variant Present in the following documents:
  • Main text
View BVdb publication page



Protean PTEN: form and function.

American Journal Of Human Genetics
Waite, Kristin A KA; Eng, Charis C
Publication Date: 2002-04

Variant appearance in text: PTEN: G20E
PubMed Link: 11875759
Variant Present in the following documents:
  • Main text
View BVdb publication page