PTEN c.724G>T ;(p.E242*)

Variant ID: 10-89717699-G-T

NM_000314.4(PTEN):c.724G>T;(p.E242*)

This variant was identified in 21 publications

View GRCh38 version.




Publications:


Uterine lavage identifies cancer mutations and increased TP53 somatic mutation burden in individuals with ovarian cancer.

Cancer Research Communications
Ghezelayagh, Talayeh S TS; Kohrn, Brendan F BF; Fredrickson, Jeanne J; Manhardt, Enna E; Radke, Marc R MR; Katz, Ronit R; Gray, Heidi J HJ; Urban, Renata R RR; Pennington, Kathryn P KP; Liao, John B JB; Doll, Kemi M KM; Simons, Elise J EJ; Burzawa, Jennifer K JK; Goff, Barbara A BA; Speiser, Paul P; Swisher, Elizabeth M EM; Norquist, Barbara M BM; Risques, Rosa Ana RA
Publication Date: 2022-10

Variant appearance in text: PTEN: 724G>T; E242*
PubMed Link: 36311816
Variant Present in the following documents:
  • crc-22-0314-s02.xlsx, sheet 6
View BVdb publication page



Genomic Alterations Identification and Resistance Mechanisms Exploration of NSCLC With Central Nervous System Metastases Using Liquid Biopsy of Cerebrospinal Fluid: A Real-World Study.

Frontiers In Oncology
Shen, Fangfang F; Liang, Naixin N; Fan, Zaiwen Z; Zhao, Min M; Kang, Jing J; Wang, Xifang X; Hu, Qun Q; Mu, Yongping Y; Wang, Kai K; Yuan, Mingming M; Chen, Rongrong R; Guo, Wei W; Dong, Guilan G; Zhao, Jun J; Bai, Jun J
Publication Date: 2022

Variant appearance in text: PTEN: 724G>T; E242*
PubMed Link: 35814426
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 2
View BVdb publication page



Spatiotemporal dynamics of clonal selection and diversification in normal endometrial epithelium.

Nature Communications
Yamaguchi, Manako M; Nakaoka, Hirofumi H; Suda, Kazuaki K; Yoshihara, Kosuke K; Ishiguro, Tatsuya T; Yachida, Nozomi N; Saito, Kyota K; Ueda, Haruka H; Sugino, Kentaro K; Mori, Yutaro Y; Yamawaki, Kaoru K; Tamura, Ryo R; Revathidevi, Sundaramoorthy S; Motoyama, Teiichi T; Tainaka, Kazuki K; Verhaak, Roel G W RGW; Inoue, Ituro I; Enomoto, Takayuki T
Publication Date: 2022-02-17

Variant appearance in text: PTEN: E242X
PubMed Link: 35177608
Variant Present in the following documents:
  • 41467_2022_Article_28568.pdf
View BVdb publication page



Discordance of PIK3CA and TP53 mutations between breast cancer brain metastases and matched primary tumors.

Scientific Reports
Thulin, Anna A; Andersson, Carola C; Werner Rönnerman, Elisabeth E; De Lara, Shahin S; Chamalidou, Chaido C; Schoenfeld, Arnd A; Kovács, Anikó A; Fagman, Henrik H; Enlund, Fredrik F; Linderholm, Barbro K BK
Publication Date: 2021-12-07

Variant appearance in text: PTEN: E242*
PubMed Link: 34876602
Variant Present in the following documents:
  • 41598_2021_2903_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Discordance of PIK3CA and TP53 mutations between breast cancer brain metastases and matched primary tumors.

Scientific Reports
Thulin, Anna A; Andersson, Carola C; Werner Rönnerman, Elisabeth E; De Lara, Shahin S; Chamalidou, Chaido C; Schoenfeld, Arnd A; Kovács, Anikó A; Fagman, Henrik H; Enlund, Fredrik F; Linderholm, Barbro K BK
Publication Date: 2021-12-07

Variant appearance in text: PTEN: E242*
PubMed Link: 34876602
Variant Present in the following documents:
  • 41598_2021_2903_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Genetic heterogeneity during breast cancer progression in young patients.

Breast (Edinburgh, Scotland)
Hagio, Kanako K; Hatanaka, Kanako C KC; Amano, Toraji T; Matsuno, Yoshihiro Y; Hatanaka, Yutaka Y; Yamashita, Hiroko H
Publication Date: 2021-12

Variant appearance in text: PTEN: E242*
PubMed Link: 34736091
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Genetic heterogeneity during breast cancer progression in young patients.

Breast (Edinburgh, Scotland)
Hagio, Kanako K; Hatanaka, Kanako C KC; Amano, Toraji T; Matsuno, Yoshihiro Y; Hatanaka, Yutaka Y; Yamashita, Hiroko H
Publication Date: 2021-10-28

Variant appearance in text: PTEN: E242*
PubMed Link: 34736091
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



IGF2 is a potential factor in RAI-refractory differentiated thyroid cancer.

Oncology Letters
Crezee, Thomas T; Tesselaar, Marika H MH; Jaeger, Martin M; Rabold, Katrin K; Corver, Willem E WE; Morreau, Hans H; Van Engen-Van Grunsven, Adriana C H ACH; Smit, Jan W A JWA; Netea-Maier, Romana T RT; Plantinga, Theo S TS
Publication Date: 2021-08

Variant appearance in text: PTEN: E242X
PubMed Link: 34149901
Variant Present in the following documents:
  • Main text
  • ol-22-02-12851.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: E242*
PubMed Link: 33854067
Variant Present in the following documents:
  • 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9
View BVdb publication page



The transcriptional landscape of Shh medulloblastoma.

Nature Communications
Skowron, Patryk P; Farooq, Hamza H; Cavalli, Florence M G FMG; Morrissy, A Sorana AS; Ly, Michelle M; Hendrikse, Liam D LD; Wang, Evan Y EY; Djambazian, Haig H; Zhu, Helen H; Mungall, Karen L KL; Trinh, Quang M QM; Zheng, Tina T; Dai, Shizhong S; Stucklin, Ana S Guerreiro ASG; Vladoiu, Maria C MC; Fong, Vernon V; Holgado, Borja L BL; Nor, Carolina C; Wu, Xiaochong X; Abd-Rabbo, Diala D; Bérubé, Pierre P; Wang, Yu Chang YC; Luu, Betty B; Suarez, Raul A RA; Rastan, Avesta A; Gillmor, Aaron H AH; Lee, John J Y JJY; Zhang, Xiao Yun XY; Daniels, Craig C; Dirks, Peter P; Malkin, David D; Bouffet, Eric E; Tabori, Uri U; Loukides, James J; Doz, François P FP; Bourdeaut, Franck F; Delattre, Olivier O OO; Masliah-Planchon, Julien J; Ayrault, Olivier O; Kim, Seung-Ki SK; Meyronet, David D; Grajkowska, Wieslawa A WA; Carlotti, Carlos G CG; de Torres, Carmen C; Mora, Jaume J; Eberhart, Charles G CG; Van Meir, Erwin G EG; Kumabe, Toshihiro T; French, Pim J PJ; Kros, Johan M JM; Jabado, Nada N; Lach, Boleslaw B; Pollack, Ian F IF; Hamilton, Ronald L RL; Rao, Amulya A Nageswara AAN; Giannini, Caterina C; Olson, James M JM; Bognár, László L; Klekner, Almos A; Zitterbart, Karel K; Phillips, Joanna J JJ; Thompson, Reid C RC; Cooper, Michael K MK; Rubin, Joshua B JB; Liau, Linda M LM; Garami, Miklós M; Hauser, Peter P; Li, Kay Ka Wai KKW; Ng, Ho-Keung HK; Poon, Wai Sang WS; Yancey Gillespie, G G; Chan, Jennifer A JA; Jung, Shin S; McLendon, Roger E RE; Thompson, Eric M EM; Zagzag, David D; Vibhakar, Rajeev R; Ra, Young Shin YS; Garre, Maria Luisa ML; Schüller, Ulrich U; Shofuda, Tomoko T; Faria, Claudia C CC; López-Aguilar, Enrique E; Zadeh, Gelareh G; Hui, Chi-Chung CC; Ramaswamy, Vijay V; Bailey, Swneke D SD; Jones, Steven J SJ; Mungall, Andrew J AJ; Moore, Richard A RA; Calarco, John A JA; Stein, Lincoln D LD; Bader, Gary D GD; Reimand, Jüri J; Ragoussis, Jiannis J; Weiss, William A WA; Marra, Marco A MA; Suzuki, Hiromichi H; Taylor, Michael D MD
Publication Date: 2021-03-19

Variant appearance in text: PTEN: E242X
PubMed Link: 33741928
Variant Present in the following documents:
  • 41467_2021_21883_MOESM5_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: 724G>T; E242*
PubMed Link: 33704917
Variant Present in the following documents:
  • TCA-12-1271-s003.xls, 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: E242*
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: E242*
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
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: 724G>T; Glu242*
PubMed Link: 32264863
Variant Present in the following documents:
  • 12885_2020_6785_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Molecular profiling identifies synchronous endometrial and ovarian cancers as metastatic endometrial cancer with favorable clinical outcome.

International Journal Of Cancer
Reijnen, Casper C; Küsters-Vandevelde, Heidi V N HVN; Ligtenberg, Marjolijn J L MJL; Bulten, Johan J; Oosterwegel, Marloes M; Snijders, Marc P L M MPLM; Sweegers, Sanne S; de Hullu, Joanne A JA; Vos, Maria C MC; van der Wurff, Anneke A M AAM; van Altena, Anne M AM; Eijkelenboom, Astrid A; Pijnenborg, Johanna M A JMA
Publication Date: 2020-07-15

Variant appearance in text: PTEN: 724G>T; Glu242*
PubMed Link: 32022266
Variant Present in the following documents:
  • IJC-147-478-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: E242*
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM13_ESM.xlsx, sheet 1
View BVdb publication page



NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.

Molecular Oncology
Bertucci, François F; Rypens, Charlotte C; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Monneur, Audrey A; Carbuccia, Nadine N; Garnier, Séverine S; Dirix, Piet P; Gonçalves, Anthony A; Vermeulen, Peter P; Debeb, Bisrat G BG; Wang, Xiaoping X; Dirix, Luc L; Ueno, Naoto T NT; Viens, Patrice P; Cristofanilli, Massimo M; Chaffanet, Max M; Birnbaum, Daniel D; Van Laere, Steven S
Publication Date: 2020-03

Variant appearance in text: PTEN: E242*
PubMed Link: 31854063
Variant Present in the following documents:
  • MOL2-14-504-s010.xlsx, sheet 1
View BVdb publication page



Genomic Comparison of Endometrioid Endometrial Carcinoma and Its Precancerous Lesions in Chinese Patients by High-Depth Next Generation Sequencing.

Frontiers In Oncology
Wang, Yao Y; Yu, Mei M; Yang, Jia-Xin JX; Cao, Dong-Yan DY; Zhang, Ying Y; Zhou, Hui-Mei HM; Yuan, Zhen Z; Shen, Keng K
Publication Date: 2019

Variant appearance in text: PTEN: 724G>T; E242X
PubMed Link: 30886832
Variant Present in the following documents:
  • Table_2.xls, sheet 1
  • Table_2.xls, sheet 2
View BVdb publication page



Lung cancer in never smokers from the Princess Margaret Cancer Centre.

Oncotarget
Korpanty, Grzegorz J GJ; Kamel-Reid, Suzanne S; Pintilie, Melania M; Hwang, David M DM; Zer, Alona A; Liu, Geoffrey G; Leighl, Natasha B NB; Feld, Ronald R; Siu, Lillian L LL; Bedard, Philippe L PL; Tsao, Ming-Sound MS; Shepherd, Frances A FA
Publication Date: 2018-04-27

Variant appearance in text: PTEN: Glu242X
PubMed Link: 29854298
Variant Present in the following documents:
  • oncotarget-09-22559-s001.pdf
View BVdb publication page



New Challenges in Targeting Signaling Pathways in Acute Lymphoblastic Leukemia by NGS Approaches: An Update.

Cancers
Montaño, Adrián A; Forero-Castro, Maribel M; Marchena-Mendoza, Darnel D; Benito, Rocío R; Hernández-Rivas, Jesús María JM
Publication Date: 2018-04-07

Variant appearance in text: N/A
PubMed Link: 29642462
Variant Present in the following documents:
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: E242*
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

American Journal Of Human Genetics
Tatton-Brown, Katrina K; Loveday, Chey C; Yost, Shawn S; Clarke, Matthew M; Ramsay, Emma E; Zachariou, Anna A; Elliott, Anna A; Wylie, Harriet H; Ardissone, Anna A; Rittinger, Olaf O; Stewart, Fiona F; Temple, I Karen IK; Cole, Trevor T; , ; Mahamdallie, Shazia S; Seal, Sheila S; Ruark, Elise E; Rahman, Nazneen N
Publication Date: 2017-05-04

Variant appearance in text: PTEN: 724G>T; Glu242X
PubMed Link: 28475857
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



Somatic mutation in PIK3CA is a late event in cervical carcinogenesis.

The Journal Of Pathology. Clinical Research
Verlaat, Wina W; Snijders, Peter Jf PJ; van Moorsel, Marinda Ih MI; Bleeker, Maaike M; Rozendaal, Lawrence L; Sie, Daoud D; Ylstra, Bauke B; Meijer, Chris Jlm CJ; Steenbergen, Renske Dm RD; Heideman, Daniëlle Am DA
Publication Date: 2015-10

Variant appearance in text: PTEN: 724G>T; E242*
PubMed Link: 27499905
Variant Present in the following documents:
  • Main text
View BVdb publication page