PTEN c.302T>C ;(p.I101T)

Variant ID: 10-89692818-T-C

NM_000314.4(PTEN):c.302T>C;(p.I101T)

This variant was identified in 48 publications

View GRCh38 version.




Publications:


Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Frontiers In Genetics
Keskin Karakoyun, Hilal H; Yüksel, Şirin K ŞK; Amanoglu, Ilayda I; Naserikhojasteh, Lara L; Yeşilyurt, Ahmet A; Yakıcıer, Cengiz C; Timuçin, Emel E; Akyerli, Cemaliye B CB
Publication Date: 2023

Variant appearance in text: PTEN: I101T
PubMed Link: 36896237
Variant Present in the following documents:
  • Table1.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: I101T
PubMed Link: 36561320
Variant Present in the following documents:
  • Table3.xlsx, sheet 1
  • Table2.xlsx, sheet 6
View BVdb publication page



Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications
Boström, Martin M; Larsson, Erik E
Publication Date: 2022-11-17

Variant appearance in text: PTEN: I101T
PubMed Link: 36396655
Variant Present in the following documents:
  • 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE
Publication Date: 2022-11-15

Variant appearance in text: PTEN: 302T>C; Ile101Thr
PubMed Link: 36350923
Variant Present in the following documents:
  • pnas.2203491119.sd01.xlsx, sheet 1
View BVdb publication page



Molecular Genetic Profile of 300 Japanese Patients with Diffuse Gliomas Using a Glioma-tailored Gene Panel.

Neurologia Medico-Chirurgica
Higa, Nayuta N; Akahane, Toshiaki T; Yokoyama, Seiya S; Yonezawa, Hajime H; Uchida, Hiroyuki H; Fujio, Shingo S; Kirishima, Mari M; Takigawa, Kosuke K; Hata, Nobuhiro N; Toh, Keita K; Yamamoto, Junkoh J; Hanaya, Ryosuke R; Tanimoto, Akihide A; Yoshimoto, Koji K
Publication Date: 2022-09-15

Variant appearance in text: PTEN: I101T
PubMed Link: 36031351
Variant Present in the following documents:
  • 1349-8029-62-0391-s001.pdf
View BVdb publication page



Genomic crossroads between non-Hodgkin's lymphoma and common variable immunodeficiency.

Frontiers In Immunology
Guevara-Hoyer, Kissy K; Fuentes-Antrás, Jesús J; de la Fuente-Muñoz, Eduardo E; Fernández-Arquero, Miguel M; Solano, Fernando F; Pérez-Segura, Pedro P; Neves, Esmeralda E; Ocaña, Alberto A; Pérez de Diego, Rebeca R; Sánchez-Ramón, Silvia S
Publication Date: 2022

Variant appearance in text: PTEN: 302T>C; Ile101Thr
PubMed Link: 35990641
Variant Present in the following documents:
  • DataSheet_2.xlsx, sheet 1
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: 302T>C; I101T
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.

Genome Medicine
Hamanaka, Kohei K; Miyake, Noriko N; Mizuguchi, Takeshi T; Miyatake, Satoko S; Uchiyama, Yuri Y; Tsuchida, Naomi N; Sekiguchi, Futoshi F; Mitsuhashi, Satomi S; Tsurusaki, Yoshinori Y; Nakashima, Mitsuko M; Saitsu, Hirotomo H; Yamada, Kohei K; Sakamoto, Masamune M; Fukuda, Hiromi H; Ohori, Sachiko S; Saida, Ken K; Itai, Toshiyuki T; Azuma, Yoshiteru Y; Koshimizu, Eriko E; Fujita, Atsushi A; Erturk, Biray B; Hiraki, Yoko Y; Ch'ng, Gaik-Siew GS; Kato, Mitsuhiro M; Okamoto, Nobuhiko N; Takata, Atsushi A; Matsumoto, Naomichi N
Publication Date: 2022-04-26

Variant appearance in text: PTEN: 302T>C; Ile101Thr
PubMed Link: 35468861
Variant Present in the following documents:
  • 13073_2022_1042_MOESM2_ESM.xls, sheet 8
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: 302T>C
PubMed Link: 35468810
Variant Present in the following documents:
  • 12920_2022_1235_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Prospective genomically guided identification of "early/evolving" and "undersampled" IDH-wildtype glioblastoma leads to improved clinical outcomes.

Neuro-Oncology
Zhang, Yalan Y; Lucas, Calixto-Hope G CG; Young, Jacob S JS; Morshed, Ramin A RA; McCoy, Lucie L; Oberheim Bush, Nancy Ann NA; Taylor, Jennie W JW; Daras, Mariza M; Butowski, Nicholas A NA; Villanueva-Meyer, Javier E JE; Cha, Soonmee S; Wrensch, Margaret M; Wiencke, John K JK; Lee, Julieann C JC; Pekmezci, Melike M; Phillips, Joanna J JJ; Perry, Arie A; Bollen, Andrew W AW; Aghi, Manish K MK; Theodosopoulos, Philip P; Chang, Edward F EF; Hervey-Jumper, Shawn L SL; Berger, Mitchel S MS; Clarke, Jennifer L JL; Chang, Susan M SM; Molinaro, Annette M AM; Solomon, David A DA
Publication Date: 2022-10-03

Variant appearance in text: PTEN: 302T>C; I101T
PubMed Link: 35395677
Variant Present in the following documents:
  • noac089_suppl_supplementary_tables_s1-s11.xlsx, sheet 5
View BVdb publication page



Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients.

Orphanet Journal Of Rare Diseases
Pena-Couso, Laura L; Ercibengoa, María M; Mercadillo, Fátima F; Gómez-Sánchez, David D; Inglada-Pérez, Lucía L; Santos, María M; Lanillos, Javier J; Gutiérrez-Abad, David D; Hernández, Almudena A; Carbonell, Pablo P; Letón, Rocío R; Robledo, Mercedes M; Rodríguez-Antona, Cristina C; Perea, José J; Urioste, Miguel M; ,
Publication Date: 2022-02-28

Variant appearance in text: PTEN: 302T>C; Ile101Thr
PubMed Link: 35227301
Variant Present in the following documents:
  • 13023_2021_2079_MOESM1_ESM.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: I101T
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



Circulating Tumor DNA Analyses Predict Disease Recurrence in Non-Muscle-Invasive Bladder Cancer.

Frontiers In Oncology
Zhang, Jinghua J; Dai, Daofeng D; Tian, Junqiang J; Li, Lifeng L; Bai, Jing J; Xu, Yaping Y; Wang, Zhiping Z; Tang, Aifa A
Publication Date: 2021

Variant appearance in text: PTEN: 302T>C; I101T
PubMed Link: 33996580
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



High prevalence of clonal hematopoiesis-type genomic abnormalities in cell-free DNA in invasive gliomas after treatment.

International Journal Of Cancer
Okamura, Ryosuke R; Piccioni, David E DE; Boichard, Amélie A; Lee, Suzanna S; Jimenez, Rebecca E RE; Sicklick, Jason K JK; Kato, Shumei S; Kurzrock, Razelle R
Publication Date: 2021-06-01

Variant appearance in text: PTEN: I101T
PubMed Link: 33497479
Variant Present in the following documents:
  • IJC-148-2839-s001.pdf
View BVdb publication page



Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups.

Bmc Medical Genomics
Miller, Eirwen M EM; Patterson, Nicole E NE; Gressel, Gregory M GM; Karabakhtsian, Rouzan G RG; Bejerano-Sagie, Michal M; Ravi, Nivedita N; Maslov, Alexander A; Quispe-Tintaya, Wilber W; Wang, Tao T; Lin, Juan J; Smith, Harriet O HO; Goldberg, Gary L GL; Kuo, Dennis Y S DYS; Montagna, Cristina C
Publication Date: 2020-11-30

Variant appearance in text: PTEN: I101T
PubMed Link: 33256706
Variant Present in the following documents:
  • 12920_2020_824_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Correlation of genetic alterations by whole-exome sequencing with clinical outcomes of glioblastoma patients from the Lebanese population.

Plos One
Saadeh, Fadi S FS; Morsi, Rami Z RZ; El-Kurdi, Abdallah A; Nemer, Georges G; Mahfouz, Rami R; Charafeddine, Maya M; Khoury, Jessica J; Najjar, Marwan W MW; Khoueiry, Pierre P; Assi, Hazem I HI
Publication Date: 2020

Variant appearance in text: PTEN: I101T
PubMed Link: 33237934
Variant Present in the following documents:
  • Main text
  • pone.0242793.pdf
  • pone.0242793.s003.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: I101T
PubMed Link: 33106165
Variant Present in the following documents:
  • 13073_2020_787_MOESM1_ESM.xlsx, sheet 9
View BVdb publication page



Cerebral MRI and Clinical Findings in Children with PTEN Hamartoma Tumor Syndrome: Can Cerebral MRI Scan Help to Establish an Earlier Diagnosis of PHTS in Children?

Cells
Plamper, Michaela M; Born, Mark M; Gohlke, Bettina B; Schreiner, Felix F; Schulte, Sandra S; Splittstößer, Vera V; Woelfle, Joachim J
Publication Date: 2020-07-10

Variant appearance in text: PTEN: 302T>C; Ile101Thr
PubMed Link: 32664367
Variant Present in the following documents:
  • Main text
  • cells-09-01668.pdf
View BVdb publication page



Clinical utility of target capture-based panel sequencing in hematological malignancies: A multicenter feasibility study.

Cancer Science
Yasuda, Takahiko T; Sanada, Masashi M; Nishijima, Dai D; Kanamori, Takashi T; Iijima, Yuka Y; Hattori, Hiroyoshi H; Saito, Akiko A; Miyoshi, Hiroaki H; Ishikawa, Yuichi Y; Asou, Norio N; Usuki, Kensuke K; Hirabayashi, Shinsuke S; Kato, Motohiro M; Ri, Masaki M; Handa, Hiroshi H; Ishida, Tadao T; Shibayama, Hirohiko H; Abe, Masahiro M; Iriyama, Chisako C; Karube, Kennosuke K; Nishikori, Momoko M; Ohshima, Koichi K; Kataoka, Keisuke K; Yoshida, Kenichi K; Shiraishi, Yuichi Y; Goto, Hiroaki H; Adachi, Souichi S; Kobayashi, Ryoji R; Kiyoi, Hitoshi H; Miyazaki, Yasushi Y; Ogawa, Seishi S; Kurahashi, Hiroki H; Yokoyama, Hisayuki H; Manabe, Atsushi A; Iida, Shinsuke S; Tomita, Akihiro A; Horibe, Keizo K
Publication Date: 2020-09

Variant appearance in text: PTEN: I101T
PubMed Link: 32619037
Variant Present in the following documents:
  • CAS-111-3367-s004.xlsx, sheet 4
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: I101T
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: I101T
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



Genomic landscape of platinum resistant and sensitive testicular cancers.

Nature Communications
Loveday, Chey C; Litchfield, Kevin K; Proszek, Paula Z PZ; Cornish, Alex J AJ; Santo, Flavia F; Levy, Max M; Macintyre, Geoff G; Holryod, Amy A; Broderick, Peter P; Dudakia, Darshna D; Benton, Barbara B; Bakir, Maise Al MA; Hiley, Crispin C; Grist, Emily E; Swanton, Charles C; Huddart, Robert R; Powles, Tom T; Chowdhury, Simon S; Shipley, Janet J; O'Connor, Simon S; Brenton, James D JD; Reid, Alison A; de Castro, David Gonzalez DG; Houlston, Richard S RS; Turnbull, Clare C
Publication Date: 2020-05-04

Variant appearance in text: PTEN: I101T
PubMed Link: 32366847
Variant Present in the following documents:
  • 41467_2020_15768_MOESM7_ESM.xlsx, sheet 2
View BVdb publication page



Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction.

Nature Communications
Post, Kathryn L KL; Belmadani, Manuel M; Ganguly, Payel P; Meili, Fabian F; Dingwall, Riki R; McDiarmid, Troy A TA; Meyers, Warren M WM; Herrington, Caitlin C; Young, Barry P BP; Callaghan, Daniel B DB; Rogic, Sanja S; Edwards, Matthew M; Niciforovic, Ana A; Cau, Alessandro A; Rankin, Catharine H CH; O'Connor, Timothy P TP; Bamji, Shernaz X SX; Loewen, Christopher J R CJR; Allan, Douglas W DW; Pavlidis, Paul P; Haas, Kurt K
Publication Date: 2020-04-29

Variant appearance in text: PTEN: I101T
PubMed Link: 32350270
Variant Present in the following documents:
  • Main text
  • 41467_2020_Article_15943.pdf
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: I101T
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
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: 302T>C; I101T
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: PTEN: I101T
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Development and validation of a targeted gene sequencing panel for application to disparate cancers.

Scientific Reports
McCabe, Mark J MJ; Gauthier, Marie-Emilie A MA; Chan, Chia-Ling CL; Thompson, Tanya J TJ; De Sousa, Sunita M C SMC; Puttick, Clare C; Grady, John P JP; Gayevskiy, Velimir V; Tao, Jiang J; Ying, Kevin K; Cipponi, Arcadi A; Deng, Niantao N; Swarbrick, Alex A; Thomas, Melissa L ML; Lord, Reginald V RV; Johns, Amber L AL; Kohonen-Corish, Maija M; O'Toole, Sandra A SA; Clark, Jonathan J; Mueller, Simon A SA; Gupta, Ruta R; McCormack, Ann I AI; Dinger, Marcel E ME; Cowley, Mark J MJ; ,
Publication Date: 2019-11-19

Variant appearance in text: PTEN: 302T>C; I101T
PubMed Link: 31745186
Variant Present in the following documents:
  • 41598_2019_52000_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Phenotype-Driven Diagnostic of PTEN Hamartoma Tumor Syndrome: Macrocephaly, But Neither Height nor Weight Development, Is the Important Trait in Children.

Cancers
Plamper, Michaela M; Gohlke, Bettina B; Schreiner, Felix F; Woelfle, Joachim J
Publication Date: 2019-07-11

Variant appearance in text: PTEN: 302T>C; Ile101Thr
PubMed Link: 31336731
Variant Present in the following documents:
  • Main text
  • cancers-11-00975.pdf
View BVdb publication page



Conformational Dynamics and Allosteric Regulation Landscapes of Germline PTEN Mutations Associated with Autism Compared to Those Associated with Cancer.

American Journal Of Human Genetics
Smith, Iris Nira IN; Thacker, Stetson S; Seyfi, Marilyn M; Cheng, Feixiong F; Eng, Charis C
Publication Date: 2019-05-02

Variant appearance in text: PTEN: 302T>C; Ile101Thr
PubMed Link: 31006514
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of solid tumor mutation profiles in liquid biopsy.

Cancer Medicine
Balaji, Sai A SA; Shanmugam, Ashwini A; Chougule, Anuradha A; Sridharan, Srikant S; Prabhash, Kumar K; Arya, Anuradha A; Chaubey, Aditya A; Hariharan, Arun A; Kolekar, Pandurang P; Sen, Manimala M; Ravichandran, Aarthi A; Katragadda, Shanmukh S; Sankaran, Satish S; Bhargava, Saurabh S; Kulkarni, Prashanth P; Rao, Suchitra S; Sunkavalli, Chinnababu C; Banavali, Shripad S; Joshi, Amit A; Noronha, Vanita V; Dutt, Amit A; Bahadur, Urvashi U; Hariharan, Ramesh R; Veeramachaneni, Vamsi V; Gupta, Vaijayanti V
Publication Date: 2018-11

Variant appearance in text: PTEN: Ile101Thr
PubMed Link: 30264478
Variant Present in the following documents:
  • CAM4-7-5439-s003.xlsx, sheet 3
  • CAM4-7-5439-s004.xlsx, sheet 3
View BVdb publication page



Dynamics and structural stability effects of germline PTEN mutations associated with cancer versus autism phenotypes.

Journal Of Biomolecular Structure & Dynamics
Smith, Iris Nira IN; Thacker, Stetson S; Jaini, Ritika R; Eng, Charis C
Publication Date: 2019-04

Variant appearance in text: PTEN: I101T
PubMed Link: 29663862
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of a PTEN mutation with reduced protein stability, phosphatase activity, and nuclear localization in Hong Kong patients with autistic features, neurodevelopmental delays, and macrocephaly.

Autism Research : Official Journal Of The International Society For Autism Research
Wong, Chi Wai CW; Or, Penelope Mei Yu PMY; Wang, Yubing Y; Li, Lisha L; Li, Jing J; Yan, Mingfei M; Cao, Ye Y; Luk, Ho Ming HM; Tong, Tony Ming For TMF; Leslie, Nick R NR; Lo, Ivan Fai-Man IF; Choy, Kwong Wai KW; Chan, Andrew Man Lok AML
Publication Date: 2018-08

Variant appearance in text: PTEN: I101T
PubMed Link: 29608813
Variant Present in the following documents:
  • Main text
  • AUR-11-1098.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: 302T>C; I101T
PubMed Link: 29604063
Variant Present in the following documents:
  • PATH-245-283-s021.xlsx, sheet 1
View BVdb publication page



Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.

Npj Genomic Medicine
Madubata, Chioma J CJ; Roshan-Ghias, Alireza A; Chu, Timothy T; Resnick, Samuel S; Zhao, Junfei J; Arnes, Luis L; Wang, Jiguang J; Rabadan, Raul R
Publication Date: 2017

Variant appearance in text: PTEN: I101T
PubMed Link: 29263839
Variant Present in the following documents:
  • 41525_2017_32_MOESM8_ESM.xlsx, sheet 2
View BVdb publication page



Actionable mutations in canine hemangiosarcoma.

Plos One
Wang, Guannan G; Wu, Ming M; Maloneyhuss, Martha A MA; Wojcik, John J; Durham, Amy C AC; Mason, Nicola J NJ; Roth, David B DB
Publication Date: 2017

Variant appearance in text: PTEN: Ile101Thr
PubMed Link: 29190660
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rapid, ultra low coverage copy number profiling of cell-free DNA as a precision oncology screening strategy.

Oncotarget
Hovelson, Daniel H DH; Liu, Chia-Jen CJ; Wang, Yugang Y; Kang, Qing Q; Henderson, James J; Gursky, Amy A; Brockman, Scott S; Ramnath, Nithya N; Krauss, John C JC; Talpaz, Moshe M; Kandarpa, Malathi M; Chugh, Rashmi R; Tuck, Missy M; Herman, Kirk K; Grasso, Catherine S CS; Quist, Michael J MJ; Feng, Felix Y FY; Haakenson, Christine C; Langmore, John J; Kamberov, Emmanuel E; Tesmer, Tim T; Husain, Hatim H; Lonigro, Robert J RJ; Robinson, Dan D; Smith, David C DC; Alva, Ajjai S AS; Hussain, Maha H MH; Chinnaiyan, Arul M AM; Tewari, Muneesh M; Mills, Ryan E RE; Morgan, Todd M TM; Tomlins, Scott A SA
Publication Date: 2017-10-27

Variant appearance in text: PTEN: I101T
PubMed Link: 29163793
Variant Present in the following documents:
  • oncotarget-08-89848-s005.xlsx, sheet 1
View BVdb publication page



Mutational heterogeneity in non-serous ovarian cancers.

Scientific Reports
Teer, Jamie K JK; Yoder, Sean S; Gjyshi, Anxhela A; Nicosia, Santo V SV; Zhang, Chaomei C; Monteiro, Alvaro N A ANA
Publication Date: 2017-08-29

Variant appearance in text: PTEN: I101T
PubMed Link: 28852190
Variant Present in the following documents:
  • 41598_2017_10432_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page



Mobile Genome Express (MGE): A comprehensive automatic genetic analyses pipeline with a mobile device.

Plos One
Yoon, Jun-Hee JH; Kim, Thomas W TW; Mendez, Pedro P; Jablons, David M DM; Kim, Il-Jin IJ
Publication Date: 2017

Variant appearance in text: PTEN: 302T>C; I101T
PubMed Link: 28403238
Variant Present in the following documents:
  • pone.0174696.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: 302T>C; I101T
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 3
View BVdb publication page



A Pilot Study of Clinical Targeted Next Generation Sequencing for Prostate Cancer: Consequences for Treatment and Genetic Counseling.

The Prostate
Cheng, Heather H HH; Klemfuss, Nola N; Montgomery, Bruce B; Higano, Celestia S CS; Schweizer, Michael T MT; Mostaghel, Elahe A EA; McFerrin, Lisa G LG; Yu, Evan Y EY; Nelson, Peter S PS; Pritchard, Colin C CC
Publication Date: 2016-10

Variant appearance in text: PTEN: 302T>C
PubMed Link: 27324988
Variant Present in the following documents:
  • Main text
View BVdb publication page



KLLN epigenotype-phenotype associations in Cowden syndrome.

European Journal Of Human Genetics : Ejhg
Nizialek, Emily A EA; Mester, Jessica L JL; Dhiman, Vineet K VK; Smiraglia, Dominic J DJ; Eng, Charis C
Publication Date: 2015-11

Variant appearance in text: PTEN: 302T>C; Ile101Thr
PubMed Link: 25669429
Variant Present in the following documents:
View BVdb publication page



Recurrent de novo mutations implicate novel genes underlying simplex autism risk.

Nature Communications
O'Roak, B J BJ; Stessman, H A HA; Boyle, E A EA; Witherspoon, K T KT; Martin, B B; Lee, C C; Vives, L L; Baker, C C; Hiatt, J B JB; Nickerson, D A DA; Bernier, R R; Shendure, J J; Eichler, E E EE
Publication Date: 2014-11-24

Variant appearance in text: PTEN: 302T>C; Ile101Thr
PubMed Link: 25418537
Variant Present in the following documents:
  • NIHMS636245-supplement-2.xlsx, sheet 1
  • NIHMS636245-supplement-3.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: I101T
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



Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.

American Journal Of Medical Genetics. Part A
Vanderver, Adeline A; Tonduti, Davide D; Kahn, Ilana I; Schmidt, Johanna J; Medne, Livija L; Vento, Jodie J; Chapman, Kimberly A KA; Lanpher, Brendan B; Pearl, Phillip P; Gropman, Andrea A; Lourenco, Charles C; Bamforth, John-Steven JS; Sharpe, Cynthia C; Pineda, Mercédes M; Schallner, Jens J; Bodamer, Olaf O; Orcesi, Simona S; Oberstein, Saskia A J Lesnik SA; Sistermans, Erik A EA; Yntema, Helger G HG; Bonnemann, Carsten C; Waldman, Amy T AT; van der Knaap, Marjo S MS
Publication Date: 2014-03

Variant appearance in text: PTEN: 302T>C; Ile101Thr
PubMed Link: 24375884
Variant Present in the following documents:
  • Main text
View BVdb publication page



CanDrA: cancer-specific driver missense mutation annotation with optimized features.

Plos One
Mao, Yong Y; Chen, Han H; Liang, Han H; Meric-Bernstam, Funda F; Mills, Gordon B GB; Chen, Ken K
Publication Date: 2013

Variant appearance in text: PTEN: I101T
PubMed Link: 24205039
Variant Present in the following documents:
  • pone.0077945.s001.xls, sheet 2
  • pone.0077945.s001.xls, sheet 3
View BVdb publication page



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: I101T
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page



PTEN is a target of chromosome 10q loss in anaplastic oligodendrogliomas and PTEN alterations are associated with poor prognosis.

The American Journal Of Pathology
Sasaki, H H; Zlatescu, M C MC; Betensky, R A RA; Ino, Y Y; Cairncross, J G JG; Louis, D N DN
Publication Date: 2001-07

Variant appearance in text: PTEN: 302T>C; Ile101Thr
PubMed Link: 11438483
Variant Present in the following documents:
  • Main text
View BVdb publication page