Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: PTEN: 275A>C; Asp92Ala

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: D92A

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 6
• Table3.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: Asp92Ala

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: D92A

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

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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: D92A

PubMed Link: 33854067

Variant Present in the following documents:

• 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9

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Characterization of the genomic landscape and actionable mutations in Chinese breast cancers by clinical sequencing.

Nature Communications

Lang, Guan-Tian GT; Jiang, Yi-Zhou YZ; Shi, Jin-Xiu JX; Yang, Fan F; Li, Xiao-Guang XG; Pei, Yu-Chen YC; Zhang, Chen-Hui CH; Ma, Ding D; Xiao, Yi Y; Hu, Peng-Chen PC; Wang, Hai H; Yang, Yun-Song YS; Guo, Lin-Wei LW; Lu, Xun-Xi XX; Xue, Meng-Zhu MZ; Wang, Peng P; Cao, A-Yong AY; Ling, Hong H; Wang, Zhong-Hua ZH; Yu, Ke-Da KD; Di, Gen-Hong GH; Li, Da-Qiang DQ; Wang, Yun-Jin YJ; Yu, Ying Y; Shi, Le-Ming LM; Hu, Xin X; Huang, Wei W; Shao, Zhi-Ming ZM

Publication Date: 2020-11-10

Variant appearance in text: PTEN: D92A

PubMed Link: 33173047

Variant Present in the following documents:

• 41467_2020_19342_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Clinical advantage of targeted sequencing for unbiased tumor mutational burden estimation in samples with low tumor purity.

Journal For Immunotherapy Of Cancer

Hong, Tae Hee TH; Cha, Hongui H; Shim, Joon Ho JH; Lee, Boram B; Chung, Jongsuk J; Lee, Chung C; Kim, Nayoung K D NKD; Choi, Yoon-La YL; Hwang, Soohyun S; Lee, Yoomi Y; Park, Sehhoon S; Jung, Hyun Ae HA; Kim, Ji-Yeon JY; Park, Yeon Hee YH; Sun, Jong-Mu JM; Ahn, Jin Seok JS; Ahn, Myung-Ju MJ; Park, Keunchil K; Lee, Se-Hoon SH; Park, Woong-Yang WY

Publication Date: 2020-10

Variant appearance in text: PTEN: D92A

PubMed Link: 33077514

Variant Present in the following documents:

• jitc-2020-001199supp002.pdf

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The genomic landscapes of individual melanocytes from human skin.

Nature

Tang, Jessica J; Fewings, Eleanor E; Chang, Darwin D; Zeng, Hanlin H; Liu, Shanshan S; Jorapur, Aparna A; Belote, Rachel L RL; McNeal, Andrew S AS; Tan, Tuyet M TM; Yeh, Iwei I; Arron, Sarah T ST; Judson-Torres, Robert L RL; Bastian, Boris C BC; Shain, A Hunter AH

Publication Date: 2020-10

Variant appearance in text: PTEN: D92A

PubMed Link: 33029006

Variant Present in the following documents:

• NIHMS1626314-supplement-1626314_SuppTable3.xlsx, sheet 2

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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: D92A

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

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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: D92A

PubMed Link: 31854063

Variant Present in the following documents:

• MOL2-14-504-s010.xlsx, sheet 1

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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: 275A>C; Asp92Ala

PubMed Link: 31006514

Variant Present in the following documents:

• Main text

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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: D92A

PubMed Link: 29663862

Variant Present in the following documents:

• Main text

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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: D92A

PubMed Link: 29608813

Variant Present in the following documents:

• Main text
• AUR-11-1098.pdf

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PTEN regulates cilia through Dishevelled.

Nature Communications

Shnitsar, Iryna I; Bashkurov, Mikhail M; Masson, Glenn R GR; Ogunjimi, Abiodun A AA; Mosessian, Sherly S; Cabeza, Eduardo Aguiar EA; Hirsch, Calley L CL; Trcka, Daniel D; Gish, Gerald G; Jiao, Jing J; Wu, Hong H; Winklbauer, Rudolf R; Williams, Roger L RL; Pelletier, Laurence L; Wrana, Jeffrey L JL; Barrios-Rodiles, Miriam M

Publication Date: 2015-09-24

Variant appearance in text: PTEN: D92A

PubMed Link: 26399523

Variant Present in the following documents:

• Main text

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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: 275A>C; Asp92Ala

PubMed Link: 25669429

Variant Present in the following documents:

View BVdb publication page

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The PTEN/NRF2 axis promotes human carcinogenesis.

Antioxidants & Redox Signaling

Rojo, Ana I AI; Rada, Patricia P; Mendiola, Marta M; Ortega-Molina, Ana A; Wojdyla, Katarzyna K; Rogowska-Wrzesinska, Adelina A; Hardisson, David D; Serrano, Manuel M; Cuadrado, Antonio A

Publication Date: 2014-12-20

Variant appearance in text: PTEN: D92A

PubMed Link: 24892215

Variant Present in the following documents:

• Main text

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Coupling of Ci-VSP modules requires a combination of structure and electrostatics within the linker.

Biophysical Journal

Hobiger, Kirstin K; Utesch, Tillmann T; Mroginski, Maria Andrea MA; Friedrich, Thomas T

Publication Date: 2012-03-21

Variant appearance in text: PTEN: D92A

PubMed Link: 22455914

Variant Present in the following documents:

• Main text

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Characterization of a novel PTEN mutation in MDA-MB-453 breast carcinoma cell line.

Bmc Cancer

Singh, Gobind G; Odriozola, Leticia L; Guan, Hong H; Kennedy, Colin R CR; Chan, Andrew M AM

Publication Date: 2011-11-21

Variant appearance in text: PTEN: D92A

PubMed Link: 22103913

Variant Present in the following documents:

• Main text
• 1471-2407-11-490.pdf

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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: D92A

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

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Electrochemical coupling in the voltage-dependent phosphatase Ci-VSP.

Nature Chemical Biology

Kohout, Susy C SC; Bell, Sarah C SC; Liu, Lijun L; Xu, Qiang Q; Minor, Daniel L DL; Isacoff, Ehud Y EY

Publication Date: 2010-05

Variant appearance in text: PTEN: D92A

PubMed Link: 20364128

Variant Present in the following documents:

• Main text
• nihms176586.pdf

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Tumor suppressor PTEN acts through dynamic interaction with the plasma membrane.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Vazquez, Francisca F; Matsuoka, Satomi S; Sellers, William R WR; Yanagida, Toshio T; Ueda, Masahiro M; Devreotes, Peter N PN

Publication Date: 2006-03-07

Variant appearance in text: PTEN: D92A

PubMed Link: 16537447

Variant Present in the following documents:

• Main text

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Shc and FAK differentially regulate cell motility and directionality modulated by PTEN.

The Journal Of Cell Biology

Gu, J J; Tamura, M M; Pankov, R R; Danen, E H EH; Takino, T T; Matsumoto, K K; Yamada, K M KM

Publication Date: 1999-07-26

Variant appearance in text: PTEN: D92A

PubMed Link: 10427092

Variant Present in the following documents:

• 9901038.pdf

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