Publications:

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Distinct metabolic profiles associated with autism spectrum disorder versus cancer in individuals with germline PTEN mutations.

Npj Genomic Medicine

Yehia, Lamis L; Ni, Ying Y; Sadler, Tammy T; Frazier, Thomas W TW; Eng, Charis C

Publication Date: 2022-03-03

Variant appearance in text: PTEN: Tyr88*

PubMed Link: 35241692

Variant Present in the following documents:

• 41525_2022_289_MOESM1_ESM.pdf

View BVdb publication page

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DNA methylation reveals distinct cells of origin for pancreatic neuroendocrine carcinomas and pancreatic neuroendocrine tumors.

Genome Medicine

Simon, Tincy T; Riemer, Pamela P; Jarosch, Armin A; Detjen, Katharina K; Di Domenico, Annunziata A; Bormann, Felix F; Menne, Andrea A; Khouja, Slim S; Monjé, Nanna N; Childs, Liam H LH; Lenze, Dido D; Leser, Ulf U; Rossner, Florian F; Morkel, Markus M; Blüthgen, Nils N; Pavel, Marianne M; Horst, David D; Capper, David D; Marinoni, Ilaria I; Perren, Aurel A; Mamlouk, Soulafa S; Sers, Christine C

Publication Date: 2022-03-01

Variant appearance in text: PTEN: 264T>G; Y88*

PubMed Link: 35227293

Variant Present in the following documents:

• 13073_2022_1018_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

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Longitudinal Circulating Tumor DNA Analysis in Blood and Saliva for Prediction of Response to Osimertinib and Disease Progression in EGFR-Mutant Lung Adenocarcinoma.

Cancers

Kim, Chul C; Xi, Liqiang L; Cultraro, Constance M CM; Wei, Fang F; Jones, Gregory G; Cheng, Jordan J; Shafiei, Ahmad A; Pham, Trinh Hoc-Tran TH; Roper, Nitin N; Akoth, Elizabeth E; Ghafoor, Azam A; Misra, Vikram V; Monkash, Nina N; Strom, Charles C; Tu, Michael M; Liao, Wei W; Chia, David D; Morris, Clive C; Steinberg, Seth M SM; Bagheri, Hadi H; Wong, David T W DTW; Raffeld, Mark M; Guha, Udayan U

Publication Date: 2021-07-03

Variant appearance in text: PTEN: Y88*

PubMed Link: 34283064

Variant Present in the following documents:

• Main text
• cancers-13-03342.pdf

View BVdb publication page

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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: Y88*

PubMed Link: 33854067

Variant Present in the following documents:

• 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9
• 41467_2021_22478_MOESM8_ESM.xlsx, sheet 3

View BVdb publication page

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A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.

Bmc Cancer

Xiao, Jian J; Li, Wenyun W; Huang, Yan Y; Huang, Mengli M; Li, Shanshan S; Zhai, Xiaohui X; Zhao, Jing J; Gao, Chan C; Xie, Wenzhuan W; Qin, Hao H; Cai, Shangli S; Bai, Yuezong Y; Lan, Ping P; Zou, Yifeng Y

Publication Date: 2021-03-16

Variant appearance in text: PTEN: Y88*

PubMed Link: 33726687

Variant Present in the following documents:

• 12885_2021_7942_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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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: Y88*

PubMed Link: 33106165

Variant Present in the following documents:

• 13073_2020_787_MOESM1_ESM.xlsx, sheet 9

View BVdb publication page

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Exceptional Response to AKT Inhibition in Patients With Breast Cancer and Germline PTEN Mutations.

Jco Precision Oncology

Kingston, Belinda B; Bailleux, Caroline C; Delaloge, Suzette S; Schiavon, Gaia G; Scott, Veronique V; Lacroix-Triki, Magali M; Carr, T Hedley TH; Kozarewa, Iwanka I; Gevensleben, Heidrun H; Kemp, Zoe Z; Pearson, Alex A; Turner, Nicholas N; André, Fabrice F

Publication Date: 2019

Variant appearance in text: PTEN: Y88X

PubMed Link: 32923864

Variant Present in the following documents:

• Main text
• PO.19.00130.pdf

View BVdb publication page

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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: Y88*

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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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: Y88*

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM13_ESM.xlsx, sheet 1

View BVdb publication page

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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: Y88*

PubMed Link: 31854063

Variant Present in the following documents:

• MOL2-14-504-s010.xlsx, sheet 1

View BVdb publication page

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From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.

Genome Medicine

Lindstrand, Anna A; Eisfeldt, Jesper J; Pettersson, Maria M; Carvalho, Claudia M B CMB; Kvarnung, Malin M; Grigelioniene, Giedre G; Anderlid, Britt-Marie BM; Bjerin, Olof O; Gustavsson, Peter P; Hammarsjö, Anna A; Georgii-Hemming, Patrik P; Iwarsson, Erik E; Johansson-Soller, Maria M; Lagerstedt-Robinson, Kristina K; Lieden, Agne A; Magnusson, Måns M; Martin, Marcel M; Malmgren, Helena H; Nordenskjöld, Magnus M; Norling, Ameli A; Sahlin, Ellika E; Stranneheim, Henrik H; Tham, Emma E; Wincent, Josephine J; Ygberg, Sofia S; Wedell, Anna A; Wirta, Valtteri V; Nordgren, Ann A; Lundin, Johanna J; Nilsson, Daniel D

Publication Date: 2019-11-07

Variant appearance in text: PTEN: 264T>G; Tyr88Ter

PubMed Link: 31694722

Variant Present in the following documents:

• Main text
• 13073_2019_Article_675.pdf

View BVdb publication page

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Targeted mutation detection in breast cancer using MammaSeq™.

Breast Cancer Research : Bcr

Smith, Nicholas G NG; Gyanchandani, Rekha R; Shah, Osama S OS; Gurda, Grzegorz T GT; Lucas, Peter C PC; Hartmaier, Ryan J RJ; Brufsky, Adam M AM; Puhalla, Shannon S; Bahreini, Amir A; Kota, Karthik K; Wald, Abigail I AI; Nikiforov, Yuri E YE; Nikiforova, Marina N MN; Oesterreich, Steffi S; Lee, Adrian V AV

Publication Date: 2019-02-08

Variant appearance in text: PTEN: Y88*

PubMed Link: 30736836

Variant Present in the following documents:

• 13058_2019_1102_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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The prognostic effects of somatic mutations in ER-positive breast cancer.

Nature Communications

Griffith, Obi L OL; Spies, Nicholas C NC; Anurag, Meenakshi M; Griffith, Malachi M; Luo, Jingqin J; Tu, Dongsheng D; Yeo, Belinda B; Kunisaki, Jason J; Miller, Christopher A CA; Krysiak, Kilannin K; Hundal, Jasreet J; Ainscough, Benjamin J BJ; Skidmore, Zachary L ZL; Campbell, Katie K; Kumar, Runjun R; Fronick, Catrina C; Cook, Lisa L; Snider, Jacqueline E JE; Davies, Sherri S; Kavuri, Shyam M SM; Chang, Eric C EC; Magrini, Vincent V; Larson, David E DE; Fulton, Robert S RS; Liu, Shuzhen S; Leung, Samuel S; Voduc, David D; Bose, Ron R; Dowsett, Mitch M; Wilson, Richard K RK; Nielsen, Torsten O TO; Mardis, Elaine R ER; Ellis, Matthew J MJ

Publication Date: 2018-09-04

Variant appearance in text: PTEN: Y88*

PubMed Link: 30181556

Variant Present in the following documents:

• 41467_2018_5914_MOESM6_ESM.xlsx, sheet 9
• 41467_2018_5914_MOESM4_ESM.xlsx, sheet 1
• 41467_2018_5914_MOESM6_ESM.xlsx, sheet 10
• 41467_2018_5914_MOESM6_ESM.xlsx, sheet 2
• 41467_2018_5914_MOESM6_ESM.xlsx, sheet 12
• 41467_2018_5914_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Genomic Evolution of Breast Cancer Metastasis and Relapse.

Cancer Cell

Yates, Lucy R LR; Knappskog, Stian S; Wedge, David D; Farmery, James H R JHR; Gonzalez, Santiago S; Martincorena, Inigo I; Alexandrov, Ludmil B LB; Van Loo, Peter P; Haugland, Hans Kristian HK; Lilleng, Peer Kaare PK; Gundem, Gunes G; Gerstung, Moritz M; Pappaemmanuil, Elli E; Gazinska, Patrycja P; Bhosle, Shriram G SG; Jones, David D; Raine, Keiran K; Mudie, Laura L; Latimer, Calli C; Sawyer, Elinor E; Desmedt, Christine C; Sotiriou, Christos C; Stratton, Michael R MR; Sieuwerts, Anieta M AM; Lynch, Andy G AG; Martens, John W JW; Richardson, Andrea L AL; Tutt, Andrew A; Lønning, Per Eystein PE; Campbell, Peter J PJ

Publication Date: 2017-08-14

Variant appearance in text: PTEN: Y88*

PubMed Link: 28810143

Variant Present in the following documents:

• mmc4.xlsx, sheet 4

View BVdb publication page

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An approach to suppress the evolution of resistance in BRAFV600E-mutant cancer.

Nature Medicine

Xue, Yaohua Y; Martelotto, Luciano L; Baslan, Timour T; Vides, Alberto A; Solomon, Martha M; Mai, Trang Thi TT; Chaudhary, Neelam N; Riely, Greg J GJ; Li, Bob T BT; Scott, Kerry K; Cechhi, Fabiola F; Stierner, Ulrika U; Chadalavada, Kalyani K; de Stanchina, Elisa E; Schwartz, Sarit S; Hembrough, Todd T; Nanjangud, Gouri G; Berger, Michael F MF; Nilsson, Jonas J; Lowe, Scott W SW; Reis-Filho, Jorge S JS; Rosen, Neal N; Lito, Piro P

Publication Date: 2017-08

Variant appearance in text: PTEN: Y88*

PubMed Link: 28714990

Variant Present in the following documents:

• NIHMS885615-supplement-1.pdf

View BVdb publication page

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Splicing mutation analysis reveals previously unrecognized pathways in lymph node-invasive breast cancer.

Scientific Reports

Dorman, Stephanie N SN; Viner, Coby C; Rogan, Peter K PK

Publication Date: 2014-11-14

Variant appearance in text: PTEN: Y88X

PubMed Link: 25394353

Variant Present in the following documents:

• srep07063-s2.xls, sheet 2

View BVdb publication page

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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: Y88*

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

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