PTEN c.402G>A ;(p.M134I)

Variant ID: 10-89692918-G-A

NM_000314.4(PTEN):c.402G>A;(p.M134I)

This variant was identified in 38 publications

View GRCh38 version.




Publications:


Inhibition of USP14 promotes TNFα-induced cell death in head and neck squamous cell carcinoma (HNSCC).

Cell Death And Differentiation
Morgan, Ethan L EL; Toni, Tiffany T; Viswanathan, Ramya R; Robbins, Yvette Y; Yang, Xinping X; Cheng, Hui H; Gunti, Sreenivasulu S; Huynh, Angel A; Sowers, Anastasia L AL; Mitchell, James B JB; Allen, Clint T CT; Chen, Zhong Z; Van Waes, Carter C
Publication Date: 2023-04-13

Variant appearance in text: PTEN: M134I
PubMed Link: 37055579
Variant Present in the following documents:
  • 41418_2023_1144_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



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: M134I
PubMed Link: 36896237
Variant Present in the following documents:
  • Table1.xlsx, sheet 1
View BVdb publication page



Tissue and liquid biopsy profiling reveal convergent tumor evolution and therapy evasion in breast cancer.

Nature Communications
Sivakumar, Smruthy S; Jin, Dexter X DX; Tukachinsky, Hanna H; Murugesan, Karthikeyan K; McGregor, Kimberly K; Danziger, Natalie N; Pavlick, Dean D; Gjoerup, Ole O; Ross, Jeffrey S JS; Harmon, Robert R; Chung, Jon J; Decker, Brennan B; Dennis, Lucas L; Frampton, Garrett M GM; Molinero, Luciana L; Oesterreich, Steffi S; Venstrom, Jeffrey M JM; Oxnard, Geoffrey R GR; Hegde, Priti S PS; Sokol, Ethan S ES
Publication Date: 2022-12-05

Variant appearance in text: PTEN: M134I
PubMed Link: 36470901
Variant Present in the following documents:
  • 41467_2022_35245_MOESM4_ESM.xlsx, sheet 17
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: M134I
PubMed Link: 36396655
Variant Present in the following documents:
  • 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Inhibition of BAD-Ser99 phosphorylation synergizes with PARP inhibition to ablate PTEN-deficient endometrial carcinoma.

Cell Death & Disease
Zhang, Xi X; Huang, Peng P; Wang, Liqiong L; Chen, Shu S; Basappa, Basappa B; Zhu, Tao T; Lobie, Peter E PE; Pandey, Vijay V
Publication Date: 2022-06-20

Variant appearance in text: PTEN: M134I
PubMed Link: 35725817
Variant Present in the following documents:
  • 41419_2022_4982_MOESM1_ESM.pdf
View BVdb publication page



Integrated genomic analyses identify high-risk factors and actionable targets in T-cell acute lymphoblastic leukemia.

Blood Science (Baltimore, Md.)
Zhu, Haichuan H; Dong, Bingjie B; Zhang, Yingchi Y; Wang, Mei M; Rao, Jianan J; Cui, Bowen B; Liu, Yu Y; Jiang, Qian Q; Wang, Weitao W; Yang, Lu L; Yu, Anqi A; Li, Zongru Z; Liu, Chao C; Zhang, Leping L; Huang, Xiaojun X; Zhu, Xiaofan X; Wu, Hong H
Publication Date: 2022-01

Variant appearance in text: PTEN: M134I
PubMed Link: 35399540
Variant Present in the following documents:
  • bls-4-16-s005.xlsx, sheet 9
  • bls-4-16-s005.xlsx, sheet 2
View BVdb publication page



Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.

Nature Biotechnology
Sánchez-Rivera, Francisco J FJ; Diaz, Bianca J BJ; Kastenhuber, Edward R ER; Schmidt, Henri H; Katti, Alyna A; Kennedy, Margaret M; Tem, Vincent V; Ho, Yu-Jui YJ; Leibold, Josef J; Paffenholz, Stella V SV; Barriga, Francisco M FM; Chu, Kevan K; Goswami, Sukanya S; Wuest, Alexandra N AN; Simon, Janelle M JM; Tsanov, Kaloyan M KM; Chakravarty, Debyani D; Zhang, Hongxin H; Leslie, Christina S CS; Lowe, Scott W SW; Dow, Lukas E LE
Publication Date: 2022-06

Variant appearance in text: PTEN: M134I
PubMed Link: 35165384
Variant Present in the following documents:
  • NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 6
  • NIHMS1760571-supplement-Supplementary_Table_S7.xlsx, sheet 5
  • NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 4
View BVdb publication page



The Pan-Tumor Landscape of Targetable Kinase Fusions in Circulating Tumor DNA.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Lee, Jessica K JK; Hazar-Rethinam, Mehlika M; Decker, Brennan B; Gjoerup, Ole O; Madison, Russell W RW; Lieber, Daniel S DS; Chung, Jon H JH; Schrock, Alexa B AB; Creeden, James J; Venstrom, Jeffrey J; Alexander, Brian B; Oxnard, Geoffrey R GR
Publication Date: 2022-02-15

Variant appearance in text: PTEN: M134I
PubMed Link: 34753780
Variant Present in the following documents:
  • 728.pdf
View BVdb publication page



Synergistic antitumor activity of pan-PI3K inhibition and immune checkpoint blockade in bladder cancer.

Journal For Immunotherapy Of Cancer
Zhu, Shaoming S; Ma, A-Hong AH; Zhu, Zheng Z; Adib, Elio E; Rao, Ting T; Li, Na N; Ni, Kaiyuan K; Chittepu, Veera Chandra Sekhar Reddy VCSR; Prabhala, Rao R; Garisto Risco, Juan J; Kwiatkowski, David D; Mouw, Kent K; Sonpavde, Guru G; Cheng, Fan F; Pan, Chong-Xian CX
Publication Date: 2021-11

Variant appearance in text: PTEN: M134I
PubMed Link: 34725212
Variant Present in the following documents:
  • jitc-2021-002917supp002.pdf
View BVdb publication page



Comprehensive characterization of 536 patient-derived xenograft models prioritizes candidatesfor targeted treatment.

Nature Communications
Sun, Hua H; Cao, Song S; Mashl, R Jay RJ; Mo, Chia-Kuei CK; Zaccaria, Simone S; Wendl, Michael C MC; Davies, Sherri R SR; Bailey, Matthew H MH; Primeau, Tina M TM; Hoog, Jeremy J; Mudd, Jacqueline L JL; Dean, Dennis A DA; Patidar, Rajesh R; Chen, Li L; Wyczalkowski, Matthew A MA; Jayasinghe, Reyka G RG; Rodrigues, Fernanda Martins FM; Terekhanova, Nadezhda V NV; Li, Yize Y; Lim, Kian-Huat KH; Wang-Gillam, Andrea A; Van Tine, Brian A BA; Ma, Cynthia X CX; Aft, Rebecca R; Fuh, Katherine C KC; Schwarz, Julie K JK; Zevallos, Jose P JP; Puram, Sidharth V SV; Dipersio, John F JF; , ; Davis-Dusenbery, Brandi B; Ellis, Matthew J MJ; Lewis, Michael T MT; Davies, Michael A MA; Herlyn, Meenhard M; Fang, Bingliang B; Roth, Jack A JA; Welm, Alana L AL; Welm, Bryan E BE; Meric-Bernstam, Funda F; Chen, Feng F; Fields, Ryan C RC; Li, Shunqiang S; Govindan, Ramaswamy R; Doroshow, James H JH; Moscow, Jeffrey A JA; Evrard, Yvonne A YA; Chuang, Jeffrey H JH; Raphael, Benjamin J BJ; Ding, Li L
Publication Date: 2021-08-24

Variant appearance in text: N/A
PubMed Link: 34429404
Variant Present in the following documents:
View BVdb publication page



The MURAL collection of prostate cancer patient-derived xenografts enables discovery through preclinical models of uro-oncology.

Nature Communications
Risbridger, Gail P GP; Clark, Ashlee K AK; Porter, Laura H LH; Toivanen, Roxanne R; Bakshi, Andrew A; Lister, Natalie L NL; Pook, David D; Pezaro, Carmel J CJ; Sandhu, Shahneen S; Keerthikumar, Shivakumar S; Quezada Urban, Rosalia R; Papargiris, Melissa M; Kraska, Jenna J; Madsen, Heather B HB; Wang, Hong H; Richards, Michelle G MG; Niranjan, Birunthi B; O'Dea, Samantha S; Teng, Linda L; Wheelahan, William W; Li, Zhuoer Z; Choo, Nicholas N; Ouyang, John F JF; Thorne, Heather H; Devereux, Lisa L; Hicks, Rodney J RJ; Sengupta, Shomik S; Harewood, Laurence L; Iddawala, Mahesh M; Azad, Arun A AA; Goad, Jeremy J; Grummet, Jeremy J; Kourambas, John J; Kwan, Edmond M EM; Moon, Daniel D; Murphy, Declan G DG; Pedersen, John J; Clouston, David D; Norden, Sam S; Ryan, Andrew A; Furic, Luc L; Goode, David L DL; Frydenberg, Mark M; Lawrence, Mitchell G MG; Taylor, Renea A RA
Publication Date: 2021-08-19

Variant appearance in text: PTEN: 402G>A; Met134Ile
PubMed Link: 34413304
Variant Present in the following documents:
  • 41467_2021_25175_MOESM4_ESM.xlsx, sheet 5
View BVdb publication page



The landscape of driver mutations in cutaneous squamous cell carcinoma.

Npj Genomic Medicine
Chang, Darwin D; Shain, A Hunter AH
Publication Date: 2021-07-16

Variant appearance in text: PTEN: M134I
PubMed Link: 34272401
Variant Present in the following documents:
  • 41525_2021_226_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Improvement of Neoantigen Identification Through Convolution Neural Network.

Frontiers In Immunology
Hao, Qing Q; Wei, Ping P; Shu, Yang Y; Zhang, Yi-Guan YG; Xu, Heng H; Zhao, Jun-Ning JN
Publication Date: 2021

Variant appearance in text: PTEN: M134I
PubMed Link: 34113354
Variant Present in the following documents:
  • Table_1.xlsx, sheet 31
  • Table_1.xlsx, sheet 2
View BVdb publication page



Postoperative circulating tumor DNA as markers of recurrence risk in stages II to III colorectal cancer.

Journal Of Hematology & Oncology
Chen, Gong G; Peng, Junjie J; Xiao, Qian Q; Wu, Hao-Xiang HX; Wu, Xiaojun X; Wang, Fulong F; Li, Liren L; Ding, Peirong P; Zhao, Qi Q; Li, Yaqi Y; Wang, Da D; Shao, Yang Y; Bao, Hua H; Pan, Zhizhong Z; Ding, Ke-Feng KF; Cai, Sanjun S; Wang, Feng F; Xu, Rui-Hua RH
Publication Date: 2021-05-17

Variant appearance in text: PTEN: M134I
PubMed Link: 34001194
Variant Present in the following documents:
  • 13045_2021_1089_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



MAPS: machine-assisted phenotype scoring enables rapid functional assessment of genetic variants by high-content microscopy.

Bmc Bioinformatics
Chao, Jesse T JT; Roskelley, Calvin D CD; Loewen, Christopher J R CJR
Publication Date: 2021-04-20

Variant appearance in text: PTEN: M134I
PubMed Link: 33879063
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomic Profiling Identified Novel Prognostic Biomarkers in Chinese Midline Glioma Patients.

Frontiers In Oncology
Li, Hainan H; Shan, Changguo C; Wu, Shengnan S; Cheng, Baijie B; Fan, Chongzu C; Cai, Linbo L; Chen, Yedan Y; Shi, Yuqian Y; Liu, Kaihua K; Shao, Yang Y; Zhu, Dan D; Li, Zhi Z
Publication Date: 2020

Variant appearance in text: PTEN: M134I
PubMed Link: 33747896
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival.

Nature Communications
Zaidi, Syed H SH; Harrison, Tabitha A TA; Phipps, Amanda I AI; Steinfelder, Robert R; Trinh, Quang M QM; Qu, Conghui C; Banbury, Barbara L BL; Georgeson, Peter P; Grasso, Catherine S CS; Giannakis, Marios M; Adams, Jeremy B JB; Alwers, Elizabeth E; Amitay, Efrat L EL; Barfield, Richard T RT; Berndt, Sonja I SI; Borozan, Ivan I; Brenner, Hermann H; Brezina, Stefanie S; Buchanan, Daniel D DD; Cao, Yin Y; Chan, Andrew T AT; Chang-Claude, Jenny J; Connolly, Charles M CM; Drew, David A DA; Farris, Alton Brad AB; Figueiredo, Jane C JC; French, Amy J AJ; Fuchs, Charles S CS; Garraway, Levi A LA; Gruber, Steve S; Guinter, Mark A MA; Hamilton, Stanley R SR; Harlid, Sophia S; Heisler, Lawrence E LE; Hidaka, Akihisa A; Hopper, John L JL; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Krzyzanowski, Paul M PM; Lemire, Mathieu M; Lin, Yi Y; Luo, Xuemei X; Mardis, Elaine R ER; McPherson, John D JD; Miller, Jessica K JK; Moreno, Victor V; Mu, Xinmeng Jasmine XJ; Nishihara, Reiko R; Papadopoulos, Nickolas N; Pasternack, Danielle D; Quist, Michael J MJ; Rafikova, Adilya A; Reid, Emma E G EEG; Shinbrot, Eve E; Shirts, Brian H BH; Stein, Lincoln D LD; Teney, Cherie D CD; Timms, Lee L; Um, Caroline Y CY; Van Guelpen, Bethany B; Van Tassel, Megan M; Wang, Xiaolong X; Wheeler, David A DA; Yung, Christina K CK; Hsu, Li L; Ogino, Shuji S; Gsur, Andrea A; Newcomb, Polly A PA; Gallinger, Steven S; Hoffmeister, Michael M; Campbell, Peter T PT; Thibodeau, Stephen N SN; Sun, Wei W; Hudson, Thomas J TJ; Peters, Ulrike U
Publication Date: 2020-07-20

Variant appearance in text: PTEN: M134I
PubMed Link: 32686686
Variant Present in the following documents:
  • 41467_2020_17386_MOESM4_ESM.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: M134I
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
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: M134I
PubMed Link: 32350270
Variant Present in the following documents:
  • 41467_2020_Article_15943.pdf
View BVdb publication page



Autism Spectrum Disorder and miRNA: An Overview of Experimental Models.

Brain Sciences
Schepici, Giovanni G; Cavalli, Eugenio E; Bramanti, Placido P; Mazzon, Emanuela E
Publication Date: 2019-10-03

Variant appearance in text: PTEN: Met134Ile
PubMed Link: 31623367
Variant Present in the following documents:
  • Main text
  • brainsci-09-00265.pdf
View BVdb publication page



Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports
Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z
Publication Date: 2018-10-30

Variant appearance in text: N/A
PubMed Link: 30380422
Variant Present in the following documents:
View BVdb publication page



The genomic landscape of cutaneous SCC reveals drivers and a novel azathioprine associated mutational signature.

Nature Communications
Inman, Gareth J GJ; Wang, Jun J; Nagano, Ai A; Alexandrov, Ludmil B LB; Purdie, Karin J KJ; Taylor, Richard G RG; Sherwood, Victoria V; Thomson, Jason J; Hogan, Sarah S; Spender, Lindsay C LC; South, Andrew P AP; Stratton, Michael M; Chelala, Claude C; Harwood, Catherine A CA; Proby, Charlotte M CM; Leigh, Irene M IM
Publication Date: 2018-09-10

Variant appearance in text: PTEN: 402G>A; M134I
PubMed Link: 30202019
Variant Present in the following documents:
  • 41467_2018_6027_MOESM5_ESM.xlsx, sheet 1
  • 41467_2018_6027_MOESM16_ESM.xlsx, sheet 1
View BVdb publication page



Crosstalk between PKCα and PI3K/AKT Signaling Is Tumor Suppressive in the Endometrium.

Cell Reports
Hsu, Alice H AH; Lum, Michelle A MA; Shim, Kang-Sup KS; Frederick, Peter J PJ; Morrison, Carl D CD; Chen, Baojiang B; Lele, Subodh M SM; Sheinin, Yuri M YM; Daikoku, Takiko T; Dey, Sudhansu K SK; Leone, Gustavo G; Black, Adrian R AR; Black, Jennifer D JD
Publication Date: 2018-07-17

Variant appearance in text: PTEN: M134I
PubMed Link: 30021163
Variant Present in the following documents:
  • NIHMS1502991-supplement-1.pdf
  • NIHMS1502991-supplement-2.pdf
View BVdb publication page



Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One
Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS
Publication Date: 2018

Variant appearance in text: PTEN: M134I
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 3
  • pone.0196434.s001.xlsx, sheet 2
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: Met134Ile
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Role of YAP1 as a Marker of Sensitivity to Dual AKT and P70S6K Inhibition in Ovarian and Uterine Malignancies.

Journal Of The National Cancer Institute
Previs, Rebecca A RA; Armaiz-Pena, Guillermo N GN; Ivan, Cristina C; Dalton, Heather J HJ; Rupaimoole, Rajesha R; Hansen, Jean M JM; Lyons, Yasmin Y; Huang, Jie J; Haemmerle, Monika M; Wagner, Michael J MJ; Gharpure, Kshipra M KM; Nagaraja, Archana S AS; Filant, Justyna J; McGuire, Michael H MH; Noh, Kyunghee K; Dorniak, Piotr L PL; Linesch, Sarah L SL; Mangala, Lingegowda S LS; Pradeep, Sunila S; Wu, Sherry Y SY; Sood, Anil K AK
Publication Date: 2017-07-01

Variant appearance in text: PTEN: M134I
PubMed Link: 28376174
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic analysis of microglandular adenosis and acinic cell carcinomas of the breast provides evidence for the existence of a low-grade triple-negative breast neoplasia family.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Geyer, Felipe C FC; Berman, Samuel H SH; Marchiò, Caterina C; Burke, Kathleen A KA; Guerini-Rocco, Elena E; Piscuoglio, Salvatore S; Ng, Charlotte Ky CK; Pareja, Fresia F; Wen, Hannah Y HY; Hodi, Zoltan Z; Schnitt, Stuart J SJ; Rakha, Emad A EA; Ellis, Ian O IO; Norton, Larry L; Weigelt, Britta B; Reis-Filho, Jorge S JS
Publication Date: 2017-01

Variant appearance in text: PTEN: M134I
PubMed Link: 27713419
Variant Present in the following documents:
  • Main text
  • NIHMS807185-supplement-8.pdf
  • nihms807185.pdf
View BVdb publication page



Aromatase inhibition remodels the clonal architecture of estrogen-receptor-positive breast cancers.

Nature Communications
Miller, Christopher A CA; Gindin, Yevgeniy Y; Lu, Charles C; Griffith, Obi L OL; Griffith, Malachi M; Shen, Dong D; Hoog, Jeremy J; Li, Tiandao T; Larson, David E DE; Watson, Mark M; Davies, Sherri R SR; Hunt, Kelly K; Suman, Vera J VJ; Snider, Jacqueline J; Walsh, Thomas T; Colditz, Graham A GA; DeSchryver, Katherine K; Wilson, Richard K RK; Mardis, Elaine R ER; Ellis, Matthew J MJ
Publication Date: 2016-08-09

Variant appearance in text: PTEN: M134i
PubMed Link: 27502118
Variant Present in the following documents:
  • ncomms12498-s3.xls, sheet 1
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: 402G>A; M134I
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 2
View BVdb publication page



A recessive form of extreme macrocephaly and mild intellectual disability complements the spectrum of PTEN hamartoma tumour syndrome.

European Journal Of Human Genetics : Ejhg
Schwerd, Tobias T; Khaled, Andrea V AV; Schürmann, Manfred M; Chen, Hannah H; Händel, Norman N; Reis, André A; Gillessen-Kaesbach, Gabriele G; Uhlig, Holm H HH; Abou Jamra, Rami R
Publication Date: 2016-06

Variant appearance in text: PTEN: Met134Ile
PubMed Link: 26443266
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.

Nature Communications
Witkiewicz, Agnieszka K AK; McMillan, Elizabeth A EA; Balaji, Uthra U; Baek, GuemHee G; Lin, Wan-Chi WC; Mansour, John J; Mollaee, Mehri M; Wagner, Kay-Uwe KU; Koduru, Prasad P; Yopp, Adam A; Choti, Michael A MA; Yeo, Charles J CJ; McCue, Peter P; White, Michael A MA; Knudsen, Erik S ES
Publication Date: 2015-04-09

Variant appearance in text: PTEN: M134I
PubMed Link: 25855536
Variant Present in the following documents:
  • ncomms7744-s2.xlsx, sheet 1
View BVdb publication page



Protein domain-level landscape of cancer-type-specific somatic mutations.

Plos Computational Biology
Yang, Fan F; Petsalaki, Evangelia E; Rolland, Thomas T; Hill, David E DE; Vidal, Marc M; Roth, Frederick P FP
Publication Date: 2015-03

Variant appearance in text: PTEN: M134I
PubMed Link: 25794154
Variant Present in the following documents:
  • pcbi.1004147.s001.xlsx, sheet 1
View BVdb publication page



Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.

Journal Of Medical Genetics
Spinelli, Laura L; Black, Fiona M FM; Berg, Jonathan N JN; Eickholt, Britta J BJ; Leslie, Nicholas R NR
Publication Date: 2015-02

Variant appearance in text: PTEN: M134I
PubMed Link: 25527629
Variant Present in the following documents:
  • jmedgenet-2014-102803-s1.pdf
View BVdb publication page



High-throughput profiling identifies clinically actionable mutations in salivary duct carcinoma.

Journal Of Translational Medicine
Ku, Bo Mi BM; Jung, Hyun Ae HA; Sun, Jong-Mu JM; Ko, Young Hyeh YH; Jeong, Han-Sin HS; Son, Young-Ik YI; Baek, Chung-Hwan CH; Park, Keunchil K; Ahn, Myung-Ju MJ
Publication Date: 2014-10-25

Variant appearance in text: PTEN: M134I
PubMed Link: 25343854
Variant Present in the following documents:
  • Main text
  • 12967_2014_Article_299.pdf
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: M134i
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
  • NIHMS630249-supplement-5.xlsx, sheet 1
View BVdb publication page



NOTCH1 mutations occur early during cutaneous squamous cell carcinogenesis.

The Journal Of Investigative Dermatology
South, Andrew P AP; Purdie, Karin J KJ; Watt, Stephen A SA; Haldenby, Sam S; den Breems, Nicoline N; Dimon, Michelle M; Arron, Sarah T ST; Kluk, Michael J MJ; Aster, Jon C JC; McHugh, Angela A; Xue, Dylan J DJ; Dayal, Jasbani Hs JH; Robinson, Kim S KS; Rizvi, Sm Hasan SH; Proby, Charlotte M CM; Harwood, Catherine A CA; Leigh, Irene M IM
Publication Date: 2014-10

Variant appearance in text: PTEN: M134I
PubMed Link: 24662767
Variant Present in the following documents:
  • NIHMS57574-supplement-data_tables.xlsx, sheet 2
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PI3K pathway dependencies in endometrioid endometrial cancer cell lines.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Weigelt, Britta B; Warne, Patricia H PH; Lambros, Maryou B MB; Reis-Filho, Jorge S JS; Downward, Julian J
Publication Date: 2013-07-01

Variant appearance in text: PTEN: M134I
PubMed Link: 23674493
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  • Main text
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Methylation of the PTEN promoter defines low-grade gliomas and secondary glioblastoma.

Neuro-Oncology
Wiencke, John K JK; Zheng, Shichun S; Jelluma, Nanette N; Tihan, Tarik T; Vandenberg, Scott S; Tamgüney, Tanja T; Baumber, Rachel R; Parsons, Ramon R; Lamborn, Kathleen R KR; Berger, Mitchel S MS; Wrensch, Margaret R MR; Haas-Kogan, Daphne Adele DA; Stokoe, David D
Publication Date: 2007-07

Variant appearance in text: PTEN: M134I
PubMed Link: 17504928
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  • Main text
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