PTEN c.228T>A ;(p.Y76*)

Variant ID: 10-89690821-T-A

NM_000314.4(PTEN):c.228T>A;(p.Y76*)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


BAP1 and PTEN mutations shape the immunological landscape of clear cell renal cell carcinoma and reveal the intertumoral heterogeneity of T cell suppression: a proof-of-concept study.

Cancer Immunology, Immunotherapy : Cii
Friedhoff, Jana J; Schneider, Felix F; Jurcic, Christina C; Endris, Volker V; Kirchner, Martina M; Sun, Angela A; Bolnavu, Iulia I; Pohl, Laura L; Teroerde, Miriam M; Kippenberger, Maximilian M; Schwab, Constantin C; Kaczorowski, Adam A; Zschäbitz, Stefanie S; Jäger, Dirk D; Hohenfellner, Markus M; Stenzinger, Albrecht A; Duensing, Anette A; Duensing, Stefan S
Publication Date: 2022-12-23

Variant appearance in text: PTEN: Tyr76*
PubMed Link: 36562826
Variant Present in the following documents:
  • Main text
  • 262_2022_Article_3346.pdf
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: Y76*
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



Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: PTEN: 228T>A; Y76*
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Validation and clinical application of a targeted next-generation sequencing gene panel for solid and hematologic malignancies.

Peerj
Prieto-Potin, Iván I; Carvajal, Nerea N; Plaza-Sánchez, Jenifer J; Manso, Rebeca R; Aúz-Alexandre, Carmen Laura CL; Chamizo, Cristina C; Zazo, Sandra S; López-Sánchez, Almudena A; Rodríguez-Pinilla, Socorro María SM; Camacho, Laura L; Longarón, Raquel R; Bellosillo, Beatriz B; Somoza, Rosa R; Hernández-Losa, Javier J; Fernández-Soria, Víctor Manuel VM; Ramos-Ruiz, Ricardo R; Cristóbal, Ion I; García-Foncillas, Jesús J; Rojo, Federico F
Publication Date: 2020

Variant appearance in text: PTEN: 228T>A; Tyr76Ter
PubMed Link: 33083132
Variant Present in the following documents:
  • peerj-08-10069-s013.xlsx, sheet 1
  • peerj-08-10069-s012.xlsx, sheet 1
  • peerj-08-10069-s010.xlsx, sheet 1
  • peerj-08-10069-s009.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: Y76*
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
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: Y76*
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



Genetic and histologic spatiotemporal evolution of recurrent, multifocal, multicentric and metastatic glioblastoma.

Acta Neuropathologica Communications
Georgescu, Maria-Magdalena MM; Olar, Adriana A
Publication Date: 2020-02-03

Variant appearance in text: PTEN: Y76*
PubMed Link: 32014051
Variant Present in the following documents:
  • Main text
  • 40478_2020_Article_889.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: Y76*
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM13_ESM.xlsx, sheet 1
View BVdb publication page



Identification of 12 cancer types through genome deep learning.

Scientific Reports
Sun, Yingshuai Y; Zhu, Sitao S; Ma, Kailong K; Liu, Weiqing W; Yue, Yao Y; Hu, Gang G; Lu, Huifang H; Chen, Wenbin W
Publication Date: 2019-11-21

Variant appearance in text: PTEN: Y76*
PubMed Link: 31754222
Variant Present in the following documents:
  • 41598_2019_53989_MOESM4_ESM.xlsx, sheet 4
View BVdb publication page



Complete regression of cutaneous metastases with systemic immune response in a patient with triple negative breast cancer receiving p53MVA vaccine with pembrolizumab.

Oncoimmunology
Yuan, Yuan Y; Kos, Ferdynand J FJ; He, Ting-Fang TF; Yin, Hongwei H HH; Li, Mengsha M; Hardwick, Nicola N; Zurcher, Kathryn K; Schmolze, Daniel D; Lee, Peter P; Pillai, Raju K RK; Chung, Vincent V; Diamond, Don J DJ
Publication Date: 2017

Variant appearance in text: PTEN: Y76*
PubMed Link: 29209571
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sensitivity to the MEK inhibitor E6201 in melanoma cells is associated with mutant BRAF and wildtype PTEN status.

Molecular Cancer
Byron, Sara A SA; Loch, David C DC; Wellens, Candice L CL; Wortmann, Andreas A; Wu, Jiayi J; Wang, John J; Nomoto, Kenichi K; Pollock, Pamela M PM
Publication Date: 2012-10-05

Variant appearance in text: PTEN: Y76X
PubMed Link: 23039341
Variant Present in the following documents:
  • Main text
  • 1476-4598-11-75.pdf
View BVdb publication page



EphA2 is a critical oncogene in melanoma.

Oncogene
Udayakumar, D D; Zhang, G G; Ji, Z Z; Njauw, C-N CN; Mroz, P P; Tsao, H H
Publication Date: 2011-12-15

Variant appearance in text: PTEN: Y76X
PubMed Link: 21666714
Variant Present in the following documents:
  • Main text
  • nihms291695.pdf
View BVdb publication page