Publications:

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Recapitulating thyroid cancer histotypes through engineering embryonic stem cells.

Nature Communications

Veschi, Veronica V; Turdo, Alice A; Modica, Chiara C; Verona, Francesco F; Di Franco, Simone S; Gaggianesi, Miriam M; Tirrò, Elena E; Di Bella, Sebastiano S; Iacono, Melania Lo ML; Pantina, Vincenzo Davide VD; Porcelli, Gaetana G; Mangiapane, Laura Rosa LR; Bianca, Paola P; Rizzo, Aroldo A; Sciacca, Elisabetta E; Pillitteri, Irene I; Vella, Veronica V; Belfiore, Antonino A; Bongiorno, Maria Rita MR; Pistone, Giuseppe G; Memeo, Lorenzo L; Colarossi, Lorenzo L; Giuffrida, Dario D; Colarossi, Cristina C; Vigneri, Paolo P; Todaro, Matilde M; Stassi, Giorgio G

Publication Date: 2023-03-11

Variant appearance in text: PTEN: Y138C

PubMed Link: 36906579

Variant Present in the following documents:

• 41467_2023_36922_MOESM4_ESM.xls, sheet 2

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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: Y138C

PubMed Link: 36396655

Variant Present in the following documents:

• 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1

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A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research

Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H

Publication Date: 2022-01

Variant appearance in text: PTEN: Y138C

PubMed Link: 34963661

Variant Present in the following documents:

• supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3

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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: 413A>G; Y138C

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

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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: Y138C

PubMed Link: 33106165

Variant Present in the following documents:

• 13073_2020_787_MOESM1_ESM.xlsx, sheet 9

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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: Y138C

PubMed Link: 32461694

Variant Present in the following documents:

• NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2

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Deep sequencing of circulating tumor DNA detects molecular residual disease and predicts recurrence in gastric cancer.

Cell Death & Disease

Yang, Jian J; Gong, Yuhua Y; Lam, Vincent K VK; Shi, Yan Y; Guan, Yanfang Y; Zhang, Yanyan Y; Ji, Liyan L; Chen, Yongsheng Y; Zhao, Yongliang Y; Qian, Feng F; Chen, Jun J; Li, Pingang P; Zhang, Fan F; Wang, Jiayin J; Zhang, Xuanping X; Yang, Ling L; Kopetz, Scott S; Futreal, P Andrew PA; Zhang, Jianjun J; Yi, Xin X; Xia, Xuefeng X; Yu, Peiwu P

Publication Date: 2020-05-11

Variant appearance in text: PTEN: 413A>G; Y138C

PubMed Link: 32393783

Variant Present in the following documents:

• 41419_2020_2531_MOESM11_ESM.xlsx, sheet 1

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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: Y138C

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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eVIDENCE: a practical variant filtering for low-frequency variants detection in cell-free DNA.

Scientific Reports

Mizuno, Kei K; Akamatsu, Shusuke S; Sumiyoshi, Takayuki T; Wong, Jing Hao JH; Fujita, Masashi M; Maejima, Kazuaki K; Nakano, Kaoru K; Ono, Atushi A; Aikata, Hiroshi H; Ueno, Masaki M; Hayami, Shinya S; Yamaue, Hiroki H; Chayama, Kazuaki K; Inoue, Takahiro T; Ogawa, Osamu O; Nakagawa, Hidewaki H; Fujimoto, Akihiro A

Publication Date: 2019-10-22

Variant appearance in text: PTEN: Y138C

PubMed Link: 31641155

Variant Present in the following documents:

• 41598_2019_51459_MOESM2_ESM.xlsx, sheet 6

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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: Y138C

PubMed Link: 31451538

Variant Present in the following documents:

• Main text

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Comprehensive genomic and immunological characterization of Chinese non-small cell lung cancer patients.

Nature Communications

Zhang, Xu-Chao XC; Wang, Jun J; Shao, Guo-Guang GG; Wang, Qun Q; Qu, Xiaotao X; Wang, Bo B; Moy, Christopher C; Fan, Yue Y; Albertyn, Zayed Z; Huang, Xiayu X; Zhang, Jingyu J; Qiu, Yang Y; Platero, Suso S; Lorenzi, Matthew V MV; Zudaire, Enrique E; Yang, Jennifer J; Cheng, Ying Y; Xu, Lin L; Wu, Yi-Long YL

Publication Date: 2019-04-16

Variant appearance in text: PTEN: Y138C

PubMed Link: 30992440

Variant Present in the following documents:

• 41467_2019_9762_MOESM13_ESM.xlsx, sheet 1

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Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Bmc Cancer

Koyama, Takahiko T; Rhrissorrakrai, Kahn K; Parida, Laxmi L

Publication Date: 2019-02-01

Variant appearance in text: PTEN: 413A>G; Y138C

PubMed Link: 30709382

Variant Present in the following documents:

• 12885_2019_5313_MOESM3_ESM.xlsx, sheet 1

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Acquired cancer resistance to combination immunotherapy from transcriptional loss of class I HLA.

Nature Communications

Paulson, K G KG; Voillet, V V; McAfee, M S MS; Hunter, D S DS; Wagener, F D FD; Perdicchio, M M; Valente, W J WJ; Koelle, S J SJ; Church, C D CD; Vandeven, N N; Thomas, H H; Colunga, A G AG; Iyer, J G JG; Yee, C C; Kulikauskas, R R; Koelle, D M DM; Pierce, R H RH; Bielas, J H JH; Greenberg, P D PD; Bhatia, S S; Gottardo, R R; Nghiem, P P; Chapuis, A G AG

Publication Date: 2018-09-24

Variant appearance in text: PTEN: Y138C

PubMed Link: 30250229

Variant Present in the following documents:

• 41467_2018_6300_MOESM4_ESM.xlsx, sheet 1

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Role of Mitochondria-Associated ER Membranes in Calcium Regulation in Cancer-Specific Settings.

Neoplasia (New York, N.Y.)

Morciano, Giampaolo G; Marchi, Saverio S; Morganti, Claudia C; Sbano, Luigi L; Bittremieux, Mart M; Kerkhofs, Martijn M; Corricelli, Mariangela M; Danese, Alberto A; Karkucinska-Wieckowska, Agnieszka A; Wieckowski, Mariusz R MR; Bultynck, Geert G; Giorgi, Carlotta C; Pinton, Paolo P

Publication Date: 2018-05

Variant appearance in text: PTEN: Y138C

PubMed Link: 29626751

Variant Present in the following documents:

• Main text
• main.pdf

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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: 413A>G; Y138C

PubMed Link: 29604063

Variant Present in the following documents:

• PATH-245-283-s021.xlsx, sheet 1

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Combination treatment of RAD001 and BEZ235 exhibits synergistic antitumor activity via down-regulation of p-4E-BP1/Mcl-1 in small cell lung cancer.

Oncotarget

Hong, Bo B; Wang, Huogang H; Deng, Ke K; Wang, Wei W; Dai, Haiming H; Yan Lui, Vivian Wai VW; Lin, Wenchu W

Publication Date: 2017-12-05

Variant appearance in text: PTEN: Y138C

PubMed Link: 29290965

Variant Present in the following documents:

• Main text
• oncotarget-08-106486.pdf

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Molecular characterization of circulating colorectal tumor cells defines genetic signatures for individualized cancer care.

Oncotarget

Kong, Say Li SL; Liu, Xingliang X; Suhaimi, Nur-Afidah Mohamed NM; Koh, Kenneth Jia Hao KJH; Hu, Min M; Lee, Daniel Yoke San DYS; Cima, Igor I; Phyo, Wai Min WM; Lee, Esther Xing Wei EXW; Tai, Joyce A JA; Foong, Yu Miin YM; Vo, Jess Honganh JH; Koh, Poh Koon PK; Zhang, Tong T; Ying, Jackie Y JY; Lim, Bing B; Tan, Min-Han MH; Hillmer, Axel M AM

Publication Date: 2017-09-15

Variant appearance in text: PTEN: Y138C

PubMed Link: 28978093

Variant Present in the following documents:

• oncotarget-08-68026-s002.xlsx, sheet 3

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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: 413A>G; Y138C

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2

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Differential Requirement for Pten Lipid and Protein Phosphatase Activity during Zebrafish Embryonic Development.

Plos One

Stumpf, Miriam M; den Hertog, Jeroen J

Publication Date: 2016

Variant appearance in text: PTEN: Y138C

PubMed Link: 26848951

Variant Present in the following documents:

• Main text
• pone.0148508.pdf

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Direct regulation of transforming growth factor β-induced epithelial-mesenchymal transition by the protein phosphatase activity of unphosphorylated PTEN in lung cancer cells.

Cancer Science

Kusunose, Masaaki M; Hashimoto, Naozumi N; Kimura, Motohiro M; Ogata, Ryo R; Aoyama, Daisuke D; Sakamoto, Koji K; Miyazaki, Shinichi S; Ando, Akira A; Omote, Norihito N; Imaizumi, Kazuyoshi K; Kawabe, Tsutomu T; Hasegawa, Yoshinori Y

Publication Date: 2015-12

Variant appearance in text: PTEN: Y138C

PubMed Link: 26450531

Variant Present in the following documents:

• Main text
• CAS-106-00000000001693.pdf

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Phosphatidylinositolphosphate phosphatase activities and cancer.

Journal Of Lipid Research

Rudge, Simon A SA; Wakelam, Michael J O MJ

Publication Date: 2016-02

Variant appearance in text: PTEN: Y138C

PubMed Link: 26302980

Variant Present in the following documents:

• Main text

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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: Y138C

PubMed Link: 25794154

Variant Present in the following documents:

• pcbi.1004147.s001.xlsx, sheet 1

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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: Y138C

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-5.xlsx, sheet 1
• NIHMS630249-supplement-6.xlsx, sheet 1

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Disruption of epithelial architecture caused by loss of PTEN or by oncogenic mutant p110α/PIK3CA but not by HER2 or mutant AKT1.

Oncogene

Berglund, F M FM; Weerasinghe, N R NR; Davidson, L L; Lim, J C JC; Eickholt, B J BJ; Leslie, N R NR

Publication Date: 2013-09-12

Variant appearance in text: PTEN: Y138C

PubMed Link: 23085752

Variant Present in the following documents:

• Main text

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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: Y138C

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

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Suppression of cellular proliferation and invasion by the concerted lipid and protein phosphatase activities of PTEN.

Oncogene

Davidson, L L; Maccario, H H; Perera, N M NM; Yang, X X; Spinelli, L L; Tibarewal, P P; Glancy, B B; Gray, A A; Weijer, C J CJ; Downes, C P CP; Leslie, N R NR

Publication Date: 2010-02-04

Variant appearance in text: PTEN: Y138C

PubMed Link: 19915616

Variant Present in the following documents:

• Main text
• ukmss-27910.pdf

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