Publications:

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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: N276S

PubMed Link: 36396655

Variant Present in the following documents:

• 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1

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Integrating thousands of PTEN variant activity and abundance measurements reveals variant subgroups and new dominant negatives in cancers.

Genome Medicine

Matreyek, Kenneth A KA; Stephany, Jason J JJ; Ahler, Ethan E; Fowler, Douglas M DM

Publication Date: 2021-10-14

Variant appearance in text: PTEN: Asn276Ser

PubMed Link: 34649609

Variant Present in the following documents:

• Main text
• 13073_2021_Article_984.pdf

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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: N276S

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

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A scalable Drosophila assay for clinical interpretation of human PTEN variants in suppression of PI3K/AKT induced cellular proliferation.

Plos Genetics

Ganguly, Payel P; Madonsela, Landiso L; Chao, Jesse T JT; Loewen, Christopher J R CJR; O'Connor, Timothy P TP; Verheyen, Esther M EM; Allan, Douglas W DW

Publication Date: 2021-09

Variant appearance in text: PTEN: N276S

PubMed Link: 34492006

Variant Present in the following documents:

• Main text

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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: N276S

PubMed Link: 33106165

Variant Present in the following documents:

• 13073_2020_787_MOESM1_ESM.xlsx, sheet 9

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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: N276S

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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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: N276S

PubMed Link: 32350270

Variant Present in the following documents:

• 41467_2020_Article_15943.pdf

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Autism-associated PTEN missense mutation leads to enhanced nuclear localization and neurite outgrowth in an induced pluripotent stem cell line.

The Febs Journal

Wong, Chi Wai CW; Wang, Yubing Y; Liu, Tian T; Li, Lisha L; Cheung, Stanley Kwok Kuen SKK; Or, Penelope Mei-Yu PM; Cheng, Alfred Sze-Lok AS; Choy, Kwong Wai KW; Burbach, Johannes Peter Henri JPH; Feng, Bo B; Chang, Raymond Chuen Chung RCC; Chan, Andrew M AM

Publication Date: 2020-11

Variant appearance in text: PTEN: N276S

PubMed Link: 32150788

Variant Present in the following documents:

• Main text
• FEBS-287-4848.pdf

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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: N276S

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

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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: N276S

PubMed Link: 31754222

Variant Present in the following documents:

• 41598_2019_53989_MOESM4_ESM.xlsx, sheet 4

View BVdb publication page

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PTEN gene mutations in patients with macrocephaly and classic autism: A systematic review.

Medical Journal Of The Islamic Republic Of Iran

Zahedi Abghari, Fateme F; Moradi, Yousef Y; Akouchekian, Mansoureh M

Publication Date: 2019

Variant appearance in text: PTEN: N276S

PubMed Link: 31086789

Variant Present in the following documents:

• Main text
• mjiri-33-10.pdf

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Nuclear Excluded Autism-Associated Phosphatase and Tensin Homolog Mutations Dysregulate Neuronal Growth.

Biological Psychiatry

Fricano-Kugler, Catherine J CJ; Getz, Stephanie A SA; Williams, Michael R MR; Zurawel, Ashley A AA; DeSpenza, Tyrone T; Frazel, Paul W PW; Li, Meijie M; O'Malley, Alistair J AJ; Moen, Erika L EL; Luikart, Bryan W BW

Publication Date: 2018-08-15

Variant appearance in text: PTEN: N276S

PubMed Link: 29373119

Variant Present in the following documents:

• Main text

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A Population of Heterogeneous Breast Cancer Patient-Derived Xenografts Demonstrate Broad Activity of PARP Inhibitor in BRCA1/2 Wild-Type Tumors.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Evans, Kurt W KW; Yuca, Erkan E; Akcakanat, Argun A; Scott, Stephen M SM; Arango, Natalia Paez NP; Zheng, Xiaofeng X; Chen, Ken K; Tapia, Coya C; Tarco, Emily E; Eterovic, Agda K AK; Black, Dalliah M DM; Litton, Jennifer K JK; Yap, Timothy A TA; Tripathy, Debu D; Mills, Gordon B GB; Meric-Bernstam, Funda F

Publication Date: 2017-11-01

Variant appearance in text: PTEN: N276S

PubMed Link: 29093017

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 827A>G; N276S

PubMed Link: 27397505

Variant Present in the following documents:

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

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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: N276S

PubMed Link: 25527629

Variant Present in the following documents:

• Main text
• jmedgenet-2014-102803.pdf
• jmedgenet-2014-102803-s1.pdf

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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: N276S

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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Subcellular targeting and dynamic regulation of PTEN: implications for neuronal cells and neurological disorders.

Frontiers In Molecular Neuroscience

Kreis, Patricia P; Leondaritis, George G; Lieberam, Ivo I; Eickholt, Britta J BJ

Publication Date: 2014

Variant appearance in text: PTEN: N276S

PubMed Link: 24744697

Variant Present in the following documents:

• Main text
• fnmol-07-00023.pdf

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