Publications:

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Integrative genomic and transcriptomic analyses illuminate the ontology of HER2-low breast carcinomas.

Genome Medicine

Berrino, Enrico E; Annaratone, Laura L; Bellomo, Sara Erika SE; Ferrero, Giulio G; Gagliardi, Amedeo A; Bragoni, Alberto A; Grassini, Dora D; Guarrera, Simonetta S; Parlato, Caterina C; Casorzo, Laura L; Panero, Mara M; Sarotto, Ivana I; Giordano, Silvia S; Cereda, Matteo M; Montemurro, Filippo F; Ponzone, Riccardo R; Crosetto, Nicola N; Naccarati, Alessio A; Sapino, Anna A; Marchiò, Caterina C

Publication Date: 2022-08-29

Variant appearance in text: PTEN: Tyr180Ter

PubMed Link: 36038884

Variant Present in the following documents:

• 13073_2022_1104_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Redefine Hyperprogressive Disease During Treatment With Immune-Checkpoint Inhibitors in Patients With Gastrointestinal Cancer.

Frontiers In Oncology

Wang, Zhenghang Z; Liu, Chang C; Bai, Yuezong Y; Zhao, Xiaochen X; Cui, Longgang L; Peng, Zhi Z; Zhang, Xiaotian X; Wang, Xicheng X; Zhao, Zhengyi Z; Li, Jian J; Shen, Lin L

Publication Date: 2021

Variant appearance in text: PTEN: 540C>A; Y180*

PubMed Link: 34858840

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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Unique Genomic Landscape of High-Grade Neuroendocrine Cervical Carcinoma: Implications for Rethinking Current Treatment Paradigms.

Jco Precision Oncology

Eskander, Ramez N RN; Elvin, Julia J; Gay, Laurie L; Ross, Jeffrey S JS; Miller, Vincent A VA; Kurzrock, Razelle R

Publication Date: 2020

Variant appearance in text: PTEN: Y180*

PubMed Link: 33015532

Variant Present in the following documents:

• PO.19.00248.pdf

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Cerebral MRI and Clinical Findings in Children with PTEN Hamartoma Tumor Syndrome: Can Cerebral MRI Scan Help to Establish an Earlier Diagnosis of PHTS in Children?

Cells

Plamper, Michaela M; Born, Mark M; Gohlke, Bettina B; Schreiner, Felix F; Schulte, Sandra S; Splittstößer, Vera V; Woelfle, Joachim J

Publication Date: 2020-07-10

Variant appearance in text: PTEN: 540C>A; Y180X

PubMed Link: 32664367

Variant Present in the following documents:

• Main text
• cells-09-01668.pdf

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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: Y180*

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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Phenotype-Driven Diagnostic of PTEN Hamartoma Tumor Syndrome: Macrocephaly, But Neither Height nor Weight Development, Is the Important Trait in Children.

Cancers

Plamper, Michaela M; Gohlke, Bettina B; Schreiner, Felix F; Woelfle, Joachim J

Publication Date: 2019-07-11

Variant appearance in text: PTEN: 540C>A; Y180X

PubMed Link: 31336731

Variant Present in the following documents:

• Main text
• cancers-11-00975.pdf

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Racial Disparities in the Molecular Landscape of Cancer.

Anticancer Research

Heath, Elisabeth I EI; Lynce, Filipa F; Xiu, Joanne J; Ellerbrock, Angela A; Reddy, Sandeep K SK; Obeid, Elias E; Liu, Stephen V SV; Bollig-Fischer, Aliccia A; Separovic, Duska D; Vanderwalde, Ari A

Publication Date: 2018-04

Variant appearance in text: N/A

PubMed Link: 29599344

Variant Present in the following documents:

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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: Y180*

PubMed Link: 28775315

Variant Present in the following documents:

• 41467_2017_289_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Concordance between genomic alterations assessed by next-generation sequencing in tumor tissue or circulating cell-free DNA.

Oncotarget

Chae, Young Kwang YK; Davis, Andrew A AA; Carneiro, Benedito A BA; Chandra, Sunandana S; Mohindra, Nisha N; Kalyan, Aparna A; Kaplan, Jason J; Matsangou, Maria M; Pai, Sachin S; Costa, Ricardo R; Jovanovic, Borko B; Cristofanilli, Massimo M; Platanias, Leonidas C LC; Giles, Francis J FJ

Publication Date: 2016-10-04

Variant appearance in text: PTEN: Y180*

PubMed Link: 27588476

Variant Present in the following documents:

• oncotarget-07-65364-s001.pdf

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Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells.

The Journal Of Allergy And Clinical Immunology

Chen, Hannah H HH; Händel, Norman N; Ngeow, Joanne J; Muller, James J; Hühn, Michael M; Yang, Huei-Ting HT; Heindl, Mario M; Berbers, Roos-Marijn RM; Hegazy, Ahmed N AN; Kionke, Janina J; Yehia, Lamis L; Sack, Ulrich U; Bläser, Frank F; Rensing-Ehl, Anne A; Reifenberger, Julia J; Keith, Julia J; Travis, Simon S; Merkenschlager, Andreas A; Kiess, Wieland W; Wittekind, Christian C; Walker, Lisa L; Ehl, Stephan S; Aretz, Stefan S; Dustin, Michael L ML; Eng, Charis C; Powrie, Fiona F; Uhlig, Holm H HH

Publication Date: 2017-02

Variant appearance in text: PTEN: 540C>A; Tyr180X

PubMed Link: 27477328

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Paclitaxel is necessary for improved survival in epithelial ovarian cancers with homologous recombination gene mutations.

Oncotarget

Jean, Stephanie S; Li, Jiaqi J; Katsaros, Dionyssios D; Wubbenhorst, Bradley B; Maxwell, Kara N KN; Fishbein, Lauren L; McLane, Michael W MW; Benedetto, Chiara C; Canuto, Emilie Marion EM; Mitra, Nandita N; Zhang, Lin L; Nathanson, Katherine L KL; Tanyi, Janos L JL

Publication Date: 2016-07-26

Variant appearance in text: PTEN: Y180X

PubMed Link: 27191893

Variant Present in the following documents:

• oncotarget-07-48577-s002.xlsx, sheet 1

View BVdb publication page

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Multi-platform molecular profiling of a large cohort of glioblastomas reveals potential therapeutic strategies.

Oncotarget

Xiu, Joanne J; Piccioni, David D; Juarez, Tiffany T; Pingle, Sandeep C SC; Hu, Jethro J; Rudnick, Jeremy J; Fink, Karen K; Spetzler, David B DB; Maney, Todd T; Ghazalpour, Anatole A; Bender, Ryan R; Gatalica, Zoran Z; Reddy, Sandeep S; Sanai, Nader N; Idbaih, Ahmed A; Glantz, Michael M; Kesari, Santosh S

Publication Date: 2016-04-19

Variant appearance in text: PTEN: Y180X

PubMed Link: 26933808

Variant Present in the following documents:

• oncotarget-07-21556-s001.pdf

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The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management.

Journal Of Medical Genetics

Tan, Wen-Hann WH; Baris, Hagit N HN; Burrows, Patricia E PE; Robson, Caroline D CD; Alomari, Ahmad I AI; Mulliken, John B JB; Fishman, Steven J SJ; Irons, Mira B MB

Publication Date: 2007-09

Variant appearance in text: N/A

PubMed Link: 17526801

Variant Present in the following documents:

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