Publications:

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Breast Cancer Treatments: Updates and New Challenges.

Journal Of Personalized Medicine

A Burguin, C Diorio, F Durocher

Publication Date: 2021-08-19

Variant appearance in text: AKT1: E17K

PubMed Link: 34442452

PubMed Central Link

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Implementation of Next Generation Sequencing-Based Liquid Biopsy for Clinical Molecular Diagnostics in Non-Small Cell Lung Cancer (NSCLC) Patients.

Diagnostics (Basel, Switzerland)

E Zulato, V Tosello, G Nardo, L Bonanno, P Del Bianco, S Indraccolo

Publication Date: 2021-08-13

Variant appearance in text: AKT1: E17K

PubMed Link: 34441402

PubMed Central Link

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Clinical Utility of Liquid Biopsy-Based Actionable Mutations Detected via ddPCR.

Biomedicines

I Palacín-Aliana, N García-Romero, A Asensi-Puig, J Carrión-Navarro, V González-Rumayor, Á Ayuso-Sacido

Publication Date: 2021-07-28

Variant appearance in text: AKT1: E17K

PubMed Link: 34440110

PubMed Central Link

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• Main text

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Targeting Akt in cancer for precision therapy.

Journal Of Hematology & Oncology

H Hua, H Zhang, J Chen, J Wang, J Liu, Y Jiang

Publication Date: 2021-08-21

Variant appearance in text: AKT1: E17K

PubMed Link: 34419139

PubMed Central Link

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• Main text

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Comprehensive Analysis of Metabolic Genes in Breast Cancer Based on Multi-Omics Data.

Pathology Oncology Research : Por

Y Hua, L Gao, X Li

Publication Date: 2021

Variant appearance in text: AKT1: E17K

PubMed Link: 34408553

PubMed Central Link

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Phase 1 study of M2698, a p70S6K/AKT dual inhibitor, in patients with advanced cancer.

Journal Of Hematology & Oncology

AM Tsimberidou, JV Shaw, D Juric, C Verschraegen, AM Weise, J Sarantopoulos, G Lopes, J Nemunaitis, M Mita, H Park, B Ellers-Lenz, H Tian, W Xiong, R Kaleta, R Kurzrock

Publication Date: 2021-08-18

Variant appearance in text: AKT1: E17K

PubMed Link: 34407844

PubMed Central Link

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Phylogenetic analysis of combined lobular and ductal carcinoma of the breast.

Molecular Medicine Reports

H Kobayashi, T Nakai, Y Nakanishi, M Esumi, S Masuda

Publication Date: 2021-10

Variant appearance in text: AKT1: Glu17Lys

PubMed Link: 34396426

PubMed Central Link

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AKT3-mediated IWS1 phosphorylation promotes the proliferation of EGFR-mutant lung adenocarcinomas through cell cycle-regulated U2AF2 RNA splicing.

Nature Communications

GI Laliotis, E Chavdoula, MD Paraskevopoulou, A Kaba, A La Ferlita, S Singh, V Anastas, KA Nair, A Orlacchio, V Taraslia, I Vlachos, M Capece, A Hatzigeorgiou, D Palmieri, C Tsatsanis, S Alaimo, L Sehgal, DP Carbone, V Coppola, PN Tsichlis

Publication Date: 2021-07-30

Variant appearance in text: AKT: E17K

PubMed Link: 34330897

PubMed Central Link

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• Main text

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Functional and mutational analysis after radiation and cetuximab treatment on prostate carcinoma cell line DU145.

Radiation Oncology (London, England)

R Schneider, G Gademann, HJ Ochel, K Neumann, B Jandrig, P Hass, M Walke, M Schostak, T Brunner, F Christoph

Publication Date: 2021-07-28

Variant appearance in text: AKT1: E17K

PubMed Link: 34321039

PubMed Central Link

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• Main text

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Durable Response to PD1 Inhibitor Pembrolizumab in a Metastatic, Metaplastic Breast Cancer.

Case Reports In Oncology

E Gorshein, K Matsuda, G Riedlinger, L Sokol, L Rodriguez-Rodriguez, F Eladoumikdachi, M Grandhi, S Ganesan, DL Toppmeyer, L Potdevin, K Toomey, KM Hirshfield, N Chan

Publication Date: 2021

Variant appearance in text: AKT1: E17K

PubMed Link: 34248561

PubMed Central Link

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Validation of a liquid biopsy assay with molecular and clinical profiling of circulating tumor DNA.

Npj Precision Oncology

JD Finkle, H Boulos, TM Driessen, C Lo, RA Blidner, A Hafez, AA Khan, A Lozac'hmeur, KE McKinnon, J Perera, W Zhu, A Dowlati, KP White, R Tell, N Beaubier

Publication Date: 2021-07-02

Variant appearance in text: AKT1: E17K

PubMed Link: 34215841

PubMed Central Link

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• Main text

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Graves disease and metastatic hormonal-active Hürthle cell thyroid cancer: A case report.

Medicine

N Besic, B Vidergar-Kralj, K Zaletel, C Grasic-Kuhar

Publication Date: 2021-06-25

Variant appearance in text: AKT1: Glu17Lys

PubMed Link: 34160415

PubMed Central Link

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• Main text

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Excellent Response to Atezolizumab After Clinically Defined Hyperprogression Upon Previous Treatment With Pembrolizumab in Metastatic Triple-Negative Breast Cancer: A Case Report and Review of the Literature.

Frontiers In Immunology

D Feng, Y Guan, M Liu, S He, W Zhao, B Yin, J Liang, Y Li, J Wang

Publication Date: 2021

Variant appearance in text: AKT1: E17K

PubMed Link: 34135884

PubMed Central Link

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Targeted PI3K/AKT-hyperactivation induces cell death in chronic lymphocytic leukemia.

Nature Communications

V Ecker, M Stumpf, L Brandmeier, T Neumayer, L Pfeuffer, T Engleitner, I Ringshausen, N Nelson, M Jücker, S Wanninger, T Zenz, C Wendtner, K Manske, K Steiger, R Rad, M Müschen, J Ruland, M Buchner

Publication Date: 2021-06-10

Variant appearance in text: AKT: E17K

PubMed Link: 34112805

PubMed Central Link

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PRMT5-mediated arginine methylation activates AKT kinase to govern tumorigenesis.

Nature Communications

S Yin, L Liu, C Brobbey, V Palanisamy, LE Ball, SK Olsen, MC Ostrowski, W Gan

Publication Date: 2021-06-08

Variant appearance in text: AKT: E17K

PubMed Link: 34103528

PubMed Central Link

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• Main text

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Mutational Landscape of PI3K-AKT-mTOR Pathway in Breast Cancer: Implications for Targeted Therapeutics.

Journal Of Cancer

W Xiao, G Zhang, B Chen, X Chen, L Wen, J Lai, X Li, M Li, H Liu, J Liu, H Han-Zhang, A Lizaso, N Liao

Publication Date: 2021

Variant appearance in text: AKT1: E17K

PubMed Link: 34093841

PubMed Central Link

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• Main text

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Identifying Novel Actionable Targets in Colon Cancer.

Biomedicines

MG Cerrito, E Grassilli

Publication Date: 2021-05-20

Variant appearance in text: AKT: E17K

PubMed Link: 34065438

PubMed Central Link

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Cell-free DNA captures tumor heterogeneity and driver alterations in rapid autopsies with pre-treated metastatic cancer.

Nature Communications

B Pereira, CT Chen, L Goyal, C Walmsley, CJ Pinto, I Baiev, R Allen, L Henderson, S Saha, S Reyes, MS Taylor, DM Fitzgerald, MW Broudo, A Sahu, X Gao, W Winckler, AR Brannon, JA Engelman, R Leary, JR Stone, CD Campbell, D Juric

Publication Date: 2021-05-27

Variant appearance in text: AKT1: E17K

PubMed Link: 34045463

PubMed Central Link

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Immature teratoma in an adolescent with Proteus syndrome: A novel association.

Clinical Case Reports

JS Underwood, C Ours, RC Burns, MJ Ferguson

Publication Date: 2021-05

Variant appearance in text: AKT1: 49G>A

PubMed Link: 34026175

PubMed Central Link

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Next-generation sequencing revealed recurrent ZFPM1 mutations in encapsulated papillary carcinoma of the breast.

Npj Precision Oncology

X Liu, X Huang, Y Bai, Z Zhang, T Jin, H Wu, Z Liang

Publication Date: 2021-05-18

Variant appearance in text: AKT1: E17K

PubMed Link: 34007008

PubMed Central Link

Variant Present in the following documents:

• Main text

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Kinase drug discovery 20 years after imatinib: progress and future directions.

Nature Reviews. Drug Discovery

P Cohen, D Cross, PA Jänne

Publication Date: 2021-05-17

Variant appearance in text: AKT: E17K

PubMed Link: 34002056

PubMed Central Link

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• Main text

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AKT Inhibitors: New Weapons in the Fight Against Breast Cancer?

Frontiers In Pharmacology

F Martorana, G Motta, G Pavone, L Motta, S Stella, SR Vitale, L Manzella, P Vigneri

Publication Date: 2021

Variant appearance in text: AKT: E17K

PubMed Link: 33995085

PubMed Central Link

Variant Present in the following documents:

• Main text

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Primary ciliated muconodular papillary tumor: A rare pulmonary disease and literature review of 65 cases.

Thoracic Cancer

Y Wang, D Wang, J Wang, S Zhao, D Ren, G Chen, Q Wang, D Xu, S Xu

Publication Date: 2021-05-07

Variant appearance in text: AKT: E17K

PubMed Link: 33960670

PubMed Central Link

Variant Present in the following documents:

• Main text

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Systematic interrogation of mutation groupings reveals divergent downstream expression programs within key cancer genes.

Bmc Bioinformatics

MR Grzadkowski, HD Holly, J Somers, E Demir

Publication Date: 2021-05-06

Variant appearance in text: AKT1: E17K

PubMed Link: 33957863

PubMed Central Link

Variant Present in the following documents:

• Main text

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Genetic Analysis and Targeted Therapy Using Buparlisib and MK2206 in a Patient with Triple Metachronous Cancers of the Kidney, Prostate, and Squamous Cell Carcinoma of the Lung: A Case Report.

Oncotargets And Therapy

T Zhao, Y Tian, X Ding, L Liu, B Tan, B Yang, J Wu, T Lei, R Wang, Y Ding

Publication Date: 2021

Variant appearance in text: AKT1: 49G>A

PubMed Link: 33953569

PubMed Central Link

Variant Present in the following documents:

• Main text

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The CINSARC signature predicts the clinical outcome in patients with Luminal B breast cancer.

Npj Breast Cancer

A Goncalves, P Finetti, D Birnbaum, F Bertucci

Publication Date: 2021-05-05

Variant appearance in text: AKT1: E17K

PubMed Link: 33953185

PubMed Central Link

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• Main text

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Implementation of Precision Oncology for Patients with Metastatic Breast Cancer in an Interdisciplinary MTB Setting.

Diagnostics (Basel, Switzerland)

E Sultova, CB Westphalen, A Jung, J Kumbrink, T Kirchner, D Mayr, M Rudelius, S Ormanns, V Heinemann, KH Metzeler, PA Greif, A Hester, S Mahner, N Harbeck, R Wuerstlein

Publication Date: 2021-04-20

Variant appearance in text: AKT1: 49G>A

PubMed Link: 33924134

PubMed Central Link

Variant Present in the following documents:

• Main text

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Phenotype and Surgical Treatment in a Case of Proteus Syndrome With Craniofacial and Oral Findings.

In Vivo (Athens, Greece)

RE Friedrich

Publication Date: 2021

Variant appearance in text: AKT1: 49G>A; Glu17Lys

PubMed Link: 33910840

PubMed Central Link

Variant Present in the following documents:

• Main text

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Identification of Metastasis-Associated MicroRNAs in Metastatic Melanoma by miRNA Expression Profile and Experimental Validation.

Frontiers In Genetics

Y Gao, J Xu, H Li, Y Hu, G Yu

Publication Date: 2021

Variant appearance in text: AKT1: E17K

PubMed Link: 33897771

PubMed Central Link

Variant Present in the following documents:

• Main text

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Convergent and Divergent Mechanisms of Epileptogenesis in mTORopathies.

Frontiers In Neuroanatomy

LH Nguyen, A Bordey

Publication Date: 2021

Variant appearance in text: AKT: E17K

PubMed Link: 33897381

PubMed Central Link

Variant Present in the following documents:

• Main text

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Redox regulation of the insulin signalling pathway.

Redox Biology

C Lennicke, HM Cochemé

Publication Date: 2021-04-02

Variant appearance in text: AKT: Glu17Lys

PubMed Link: 33893069

PubMed Central Link

Variant Present in the following documents:

• Main text

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SalvGlandDx - a comprehensive salivary gland neoplasm specific next generation sequencing panel to facilitate diagnosis and identify therapeutic targets.

Neoplasia (New York, N.Y.)

SN Freiberger, M Brada, C Fritz, S Höller, A Vogetseder, M Horcic, M Bihl, M Michal, M Lanzer, M Wartenberg, U Borner, PK Bode, MA Broglie, T Rordorf, GB Morand, NJ Rupp

Publication Date: 2021-04-17

Variant appearance in text: AKT1: E17K

PubMed Link: 33878706

PubMed Central Link

Variant Present in the following documents:

• Main text

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MEK inhibitors - novel targeted therapies of neurofibromatosis associated benign and malignant lesions.

Biomarker Research

A Harder

Publication Date: 2021-04-16

Variant appearance in text: AKT1: E17K

PubMed Link: 33863389

PubMed Central Link

Variant Present in the following documents:

• Main text

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Characterization of AKT Somatic Mutations in Chinese Breast Cancer Patients.

Cancer Management And Research

L Wen, G Zhang, C Ren, X Li, H Mok, M Jia, Y Wang, B Chen, K Li, L Cao, C Li, W Xiao, J Lai, J Lin, G Wei, Y Li, Y Zhang, X Chen, N Liao

Publication Date: 2021

Variant appearance in text: AKT: E17K

PubMed Link: 33854375

PubMed Central Link

Variant Present in the following documents:

• Main text

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Impact of clinical targeted sequencing on endocrine responsiveness in estrogen receptor-positive, HER2-negative metastatic breast cancer.

Scientific Reports

K Hagio, T Amano, H Hayashi, T Takeshita, T Oshino, J Kikuchi, Y Ohhara, I Yabe, I Kinoshita, H Nishihara, H Yamashita

Publication Date: 2021-04-14

Variant appearance in text: AKT1: E17K

PubMed Link: 33854152

PubMed Central Link

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• Main text

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Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications

SL Romero-Cordoba, I Salido-Guadarrama, R Rebollar-Vega, V Bautista-Piña, C Dominguez-Reyes, A Tenorio-Torres, F Villegas-Carlos, JC Fernández-López, L Uribe-Figueroa, L Alfaro-Ruiz, A Hidalgo-Miranda

Publication Date: 2021-04-14

Variant appearance in text: AKT1: Glu17Lys

PubMed Link: 33854067

PubMed Central Link

Variant Present in the following documents:

• Main text

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The feasibility of circulating tumor DNA analysis as a marker of recurrence in triple-negative breast cancer.

Oncology Letters

S Okazaki, T Sasaki, S Yasuda, M Abe, N Yoshida, R Yoshida, K Ishibashi, Y Minami, S Okumura, S Chiba, H Takei, R Hayashi, T Nagato, H Kobayashi, A Sugitani, Y Ono, Y Mizukami, M Kitada, Y Ohsaki

Publication Date: 2021-05

Variant appearance in text: AKT1: 49G>A

PubMed Link: 33841581

PubMed Central Link

Variant Present in the following documents:

• Main text

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Low-level variant calling for non-matched samples using a position-based and nucleotide-specific approach.

Bmc Bioinformatics

JN Dudley, CS Hong, MA Hawari, J Shwetar, JC Sapp, J Lack, H Shiferaw, , JJ Johnston, LG Biesecker

Publication Date: 2021-04-08

Variant appearance in text: AKT1: Glu17Lys

PubMed Link: 33832433

PubMed Central Link

Variant Present in the following documents:

• Main text

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Meningioma: A Review of Epidemiology, Pathology, Diagnosis, Treatment, and Future Directions.

Biomedicines

C Ogasawara, BD Philbrick, DC Adamson

Publication Date: 2021-03-21

Variant appearance in text: AKT1: Glu17Lys

PubMed Link: 33801089

PubMed Central Link

Variant Present in the following documents:

• Main text

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Molecular characterization of lung squamous cell carcinoma tumors reveals therapeutically relevant alterations.

Oncotarget

A Joshi, R Mishra, S Desai, P Chandrani, H Kore, R Sunder, S Hait, P Iyer, V Trivedi, A Choughule, V Noronha, A Joshi, V Patil, N Menon, R Kumar, K Prabhash, A Dutt

Publication Date: 2021-03-16

Variant appearance in text: AKT1: E17K

PubMed Link: 33796225

PubMed Central Link

Variant Present in the following documents:

• Main text

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Associations of pathological diagnosis and genetic abnormalities in meningiomas with the embryological origins of the meninges.

Scientific Reports

A Okano, S Miyawaki, H Hongo, S Dofuku, Y Teranishi, J Mitsui, M Tanaka, M Shin, H Nakatomi, N Saito

Publication Date: 2021-03-26

Variant appearance in text: AKT1: Glu17Lys

PubMed Link: 33772057

PubMed Central Link

Variant Present in the following documents:

• Main text

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OncoGEMINI: software for investigating tumor variants from multiple biopsies with integrated cancer annotations.

Genome Medicine

TJ Nicholas, MJ Cormier, X Huang, Y Qiao, GT Marth, AR Quinlan

Publication Date: 2021-03-26

Variant appearance in text: AKT1: E17K

PubMed Link: 33771218

PubMed Central Link

Variant Present in the following documents:

• Main text

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Circulating tumor DNA as a dynamic biomarker of response to palbociclib and fulvestrant in metastatic breast cancer patients.

Breast Cancer Research : Bcr

L Darrigues, JY Pierga, A Bernard-Tessier, I Bièche, AB Silveira, M Michel, D Loirat, P Cottu, L Cabel, C Dubot, R Geiss, F Ricci, A Vincent-Salomon, C Proudhon, FC Bidard

Publication Date: 2021-03-06

Variant appearance in text: AKT1: E17K

PubMed Link: 33676547

PubMed Central Link

Variant Present in the following documents:

• Main text

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Molecular Biomarkers for Contemporary Therapies in Hormone Receptor-Positive Breast Cancer.

Genes

A Freelander, LJ Brown, A Parker, D Segara, N Portman, B Lau, E Lim

Publication Date: 2021-02-17

Variant appearance in text: AKT: E17K

PubMed Link: 33671468

PubMed Central Link

Variant Present in the following documents:

• Main text

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Therapeutic Advances in Oncology.

International Journal Of Molecular Sciences

J Liu, P Pandya, S Afshar

Publication Date: 2021-02-18

Variant appearance in text: AKT: E17K

PubMed Link: 33670524

PubMed Central Link

Variant Present in the following documents:

• Main text

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The Correlation of Mutations and Expressions of Genes within the PI3K/Akt/mTOR Pathway in Breast Cancer-A Preliminary Study.

International Journal Of Molecular Sciences

P Kołodziej, M Nicoś, PA Krawczyk, J Bogucki, A Karczmarczyk, D Zalewski, T Kubrak, E Kołodziej, A Makuch-Kocka, B Madej-Czerwonka, BJ Płachno, J Kocki, A Bogucka-Kocka

Publication Date: 2021-02-19

Variant appearance in text: AKT1: 49G>A

PubMed Link: 33669698

PubMed Central Link

Variant Present in the following documents:

• Main text

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Identification of a PLCE1‑regulated competing endogenous RNA regulatory network for esophageal squamous cell carcinoma.

Oncology Reports

Z Yang, Y Hui, H Peng, H Zhang, M Li, L Song, F Li, X Cui

Publication Date: 2021-01-04

Variant appearance in text: AKT1: E17K

PubMed Link: 33650665

PubMed Central Link

Variant Present in the following documents:

• Main text

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Comprehensive molecular profiling of Taiwanese breast cancers revealed potential therapeutic targets: prevalence of actionable mutations among 380 targeted sequencing analyses.

Bmc Cancer

CC Huang, YF Tsai, CY Liu, TC Chao, PJ Lien, YS Lin, CJ Feng, JH Chiu, CY Hsu, LM Tseng

Publication Date: 2021-02-25

Variant appearance in text: AKT1: E17K

PubMed Link: 33632156

PubMed Central Link

Variant Present in the following documents:

• Main text

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Clinical significance of checkpoint regulator "Programmed death ligand-1 (PD-L1)" expression in meningioma: review of the current status.

Journal Of Neuro-Oncology

S Karimi, S Mansouri, F Nassiri, S Bunda, O Singh, PK Brastianos, IF Dunn, G Zadeh

Publication Date: 2021-02

Variant appearance in text: AKT1: E17K

PubMed Link: 33611710

PubMed Central Link

Variant Present in the following documents:

• Main text

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Identification of AKT1/β-catenin mutations conferring cetuximab and chemotherapeutic drug resistance in colorectal cancer treatment.

Oncology Letters

G Hasbal-Celikok, P Aksoy-Sagirli, G Altiparmak-Ulbegi, A Can

Publication Date: 2021-03

Variant appearance in text: AKT1: E17K

PubMed Link: 33574948

PubMed Central Link

Variant Present in the following documents:

• Main text

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The Role of mTOR Signaling as a Therapeutic Target in Cancer.

International Journal Of Molecular Sciences

NV Popova, M Jücker

Publication Date: 2021-02-09

Variant appearance in text: AKT1: E17K

PubMed Link: 33572326

PubMed Central Link

Variant Present in the following documents:

• Main text

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Genomic and Epigenetic Advances in Focal Cortical Dysplasia Types I and II: A Scoping Review.

Frontiers In Neuroscience

J Jesus-Ribeiro, LM Pires, JD Melo, IP Ribeiro, O Rebelo, F Sales, A Freire, JB Melo

Publication Date: 2020

Variant appearance in text: AKT1: Glu17Lys

PubMed Link: 33551717

PubMed Central Link

Variant Present in the following documents:

• Main text

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Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder?

Neurology. Genetics

R Guerrini, M Cavallin, T Pippucci, A Rosati, F Bisulli, P Dimartino, C Barba, R Garbelli, AM Buccoliero, L Tassi, V Conti

Publication Date: 2021-02

Variant appearance in text: AKT1: 49G>A; Glu17Lys

PubMed Link: 33542949

PubMed Central Link

Variant Present in the following documents:

• Main text

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Druggable targets meet oncogenic drivers: opportunities and limitations of target-based classification of tumors and the role of Molecular Tumor Boards.

Esmo Open

R Danesi, S Fogli, S Indraccolo, M Del Re, AP Dei Tos, L Leoncini, L Antonuzzo, L Bonanno, V Guarneri, A Pierini, G Amunni, P Conte

Publication Date: 2021-02-01

Variant appearance in text: AKT: E17K

PubMed Link: 33540286

PubMed Central Link

Variant Present in the following documents:

• Main text

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Hierarchical tumor heterogeneity mediated by cell contact between distinct genetic subclones.

The Journal Of Clinical Investigation

S Karthikeyan, IG Waters, L Dennison, D Chu, J Donaldson, DH Shin, DM Rosen, PI Gonzalez-Ericsson, V Sanchez, ME Sanders, MV Pantone, RE Bergman, BA Davidson, SC Reed, DJ Zabransky, K Cravero, K Kyker-Snowman, B Button, HY Wong, PJ Hurley, S Croessmann, B Park

Publication Date: 2021-02-02

Variant appearance in text: AKT1: E17K

PubMed Link: 33529175

PubMed Central Link

Variant Present in the following documents:

• Main text

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Loss of G-Protein Pathway Suppressor 2 Promotes Tumor Growth Through Activation of AKT Signaling.

Frontiers In Cell And Developmental Biology

S Chan, E Smith, Y Gao, J Kwan, BC Blum, AM Tilston-Lunel, I Turcinovic, X Varelas, MD Cardamone, S Monti, A Emili, V Perissi

Publication Date: 2020

Variant appearance in text: AKT: E17K

PubMed Link: 33490071

PubMed Central Link

Variant Present in the following documents:

• Main text

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Beyond diagnostic yield: prenatal exome sequencing results in maternal, neonatal, and familial clinical management changes.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

LK Tolusso, P Hazelton, B Wong, DT Swarr

Publication Date: 2021-01-13

Variant appearance in text: AKT1: 49G>A; Glu17Lys

PubMed Link: 33442022

PubMed Central Link

Variant Present in the following documents:

• Main text

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Morphological, immunohistochemical, and genetic analyses of bronchiolar adenoma and its putative variants.

The Journal Of Pathology. Clinical Research

J Shao, JC Yin, H Bao, R Zhao, Y Han, L Zhu, X Wu, Y Shao, J Zhang

Publication Date: 2021-01-05

Variant appearance in text: AKT1: 49G>A; E17K

PubMed Link: 33400370

PubMed Central Link

Variant Present in the following documents:

• Main text

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Proteus syndrome caused by novel somatic AKT1 duplication.

Saudi Medical Journal

T AlAnzi, E Al-Mashharawi, A Alhashem

Publication Date: 2021-01

Variant appearance in text: AKT1: 49G>A

PubMed Link: 33399177

PubMed Central Link

Variant Present in the following documents:

• Main text

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[Analysis of Clinical Characteristics of 35 Cases 
of Pulmonary Sclerosing Pneumocytoma].

Zhongguo Fei Ai Za Zhi = Chinese Journal Of Lung Cancer

X Liu, Z Huang, J Zhang

Publication Date: 2020-12-20

Variant appearance in text: AKT1: E17K

PubMed Link: 33357311

PubMed Central Link

Variant Present in the following documents:

• Main text

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Genetic aberrations in Chinese pancreatic cancer patients and their association with anatomic location and disease outcomes.

Cancer Medicine

J Lu, R Yu, R Liu, X Liang, J Sun, H Zhang, H Wu, Z Zhang, YW Shao, J Guo, Z Liang

Publication Date: 2020-12-22

Variant appearance in text: AKT1: E17K

PubMed Link: 33350171

PubMed Central Link

Variant Present in the following documents:

• Main text

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Advances in meningioma genomics, proteomics, and epigenetics: insights into biomarker identification and targeted therapies.

Oncotarget

AA Nazem, J Ruzevick, MJ Ferreira

Publication Date: 2020-12-08

Variant appearance in text: AKT1: E17K

PubMed Link: 33346248

PubMed Central Link

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The molecular and gene/miRNA expression profiles of radioiodine resistant papillary thyroid cancer.

Journal Of Experimental & Clinical Cancer Research : Cr

C Colombo, E Minna, C Gargiuli, M Muzza, M Dugo, L De Cecco, G Pogliaghi, D Tosi, G Bulfamante, A Greco, L Fugazzola, MG Borrello

Publication Date: 2020-11-16

Variant appearance in text: AKT1: E17K

PubMed Link: 33198784

PubMed Central Link

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

Nature Communications

GT Lang, YZ Jiang, JX Shi, F Yang, XG Li, YC Pei, CH Zhang, D Ma, Y Xiao, PC Hu, H Wang, YS Yang, LW Guo, XX Lu, MZ Xue, P Wang, AY Cao, H Ling, ZH Wang, KD Yu, GH Di, DQ Li, YJ Wang, Y Yu, LM Shi, X Hu, W Huang, ZM Shao

Publication Date: 2020-11-10

Variant appearance in text: AKT: E17K

PubMed Link: 33173047

PubMed Central Link

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Phase 2 study of buparlisib (BKM120), a pan-class I PI3K inhibitor, in patients with metastatic triple-negative breast cancer.

Breast Cancer Research : Bcr

AC Garrido-Castro, C Saura, R Barroso-Sousa, H Guo, E Ciruelos, B Bermejo, J Gavilá, V Serra, A Prat, L Paré, P Céliz, P Villagrasa, Y Li, J Savoie, Z Xu, CL Arteaga, IE Krop, DB Solit, GB Mills, LC Cantley, EP Winer, NU Lin, J Rodon

Publication Date: 2020-11-02

Variant appearance in text: AKT1: E17K

PubMed Link: 33138866

PubMed Central Link

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Effect of AKT1 (p. E17K) Hotspot Mutation on Malignant Tumorigenesis and Prognosis.

Frontiers In Cell And Developmental Biology

Y Chen, L Huang, Y Dong, C Tao, R Zhang, H Shao, H Shen

Publication Date: 2020

Variant appearance in text: AKT: E17K

PubMed Link: 33123537

PubMed Central Link

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Phase 1 study of the HSP90 inhibitor onalespib in combination with AT7519, a pan-CDK inhibitor, in patients with advanced solid tumors.

Cancer Chemotherapy And Pharmacology

KT Do, G O'Sullivan Coyne, JL Hays, JG Supko, SV Liu, K Beebe, L Neckers, JB Trepel, MJ Lee, T Smyth, C Gannon, J Hedglin, A Muzikansky, S Campos, J Lyons, P Ivy, JH Doroshow, AP Chen, GI Shapiro

Publication Date: 2020-12

Variant appearance in text: AKT: E17K

PubMed Link: 33095286

PubMed Central Link

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Randomized Controlled Trials Versus Real World Evidence: Neither Magic Nor Myth.

Clinical Pharmacology And Therapeutics

HG Eichler, F Pignatti, B Schwarzer-Daum, A Hidalgo-Simon, I Eichler, P Arlett, A Humphreys, S Vamvakas, N Brun, G Rasi

Publication Date: 2020-10-16

Variant appearance in text: AKT1: E17K

PubMed Link: 33063841

PubMed Central Link

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Phenotypic and genetic spectrum of isolated macrodactyly: somatic mosaicism of PIK3CA and AKT1 oncogenic variants.

Orphanet Journal Of Rare Diseases

W Tian, Y Huang, L Sun, Y Guo, S Zhao, M Lin, X Dong, W Zhong, Y Yin, Z Chen, N Zhang, Y Zhang, L Wang, J Lin, Z Yan, X Yang, J Zhao, G Qiu, J Zhang, Z Wu, N Wu,

Publication Date: 2020-10-14

Variant appearance in text: AKT1: Glu17Lys

PubMed Link: 33054853

PubMed Central Link

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Development and characterization of protein kinase B/AKT isoform-specific nanobodies.

Plos One

T Merckaert, O Zwaenepoel, K Gevaert, J Gettemans

Publication Date: 2020

Variant appearance in text: AKT1: E17K

PubMed Link: 33045011

PubMed Central Link

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Somatic mutation profiling in BRCA-negative breast and ovarian cancer patients by multigene panel sequencing.

American Journal Of Cancer Research

A Kwong, IW Cheuk, VY Shin, CY Ho, CH Au, DN Ho, EY Wong, SW Yu, J Chen, KK Chan, HY Ngan, TL Chan, ES Ma

Publication Date: 2020

Variant appearance in text: AKT: 49G>A

PubMed Link: 33042626

PubMed Central Link

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Mutant SF3B1 promotes AKT and NF-kB driven mammary tumorigenesis.

The Journal Of Clinical Investigation

B Liu, Z Liu, S Chen, M Ki, C Erickson, JS Reis-Filho, BH Durham, Q Chang, E de Stanchina, Y Sun, R Rabadan, O Abdel-Wahab, S Chandarlapaty

Publication Date: 2020-10-08

Variant appearance in text: AKT: E17K

PubMed Link: 33031100

PubMed Central Link

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An All-In-One Transcriptome-Based Assay to Identify Therapy-Guiding Genomic Aberrations in Nonsmall Cell Lung Cancer Patients.

Cancers

J Wei, AA Rybczynska, P Meng, M Terpstra, A Saber, J Sietzema, W Timens, E Schuuring, TJN Hiltermann, HJM Groen, AJ van der Wekken, A van den Berg, K Kok

Publication Date: 2020-10-01

Variant appearance in text: AKT1: E17K

PubMed Link: 33019710

PubMed Central Link

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Acne following Blaschko's lines in Proteus syndrome.

Jaad Case Reports

AM Cartron, DJ Pithadia, A Buser, LG Biesecker, TN Darling

Publication Date: 2020-10

Variant appearance in text: AKT1: 49G>A

PubMed Link: 33005710

PubMed Central Link

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Hyperprogression: A novel response pattern under immunotherapy.

Clinical And Translational Medicine

XJ Han, A Alu, YN Xiao, YQ Wei, XW Wei

Publication Date: 2020-09

Variant appearance in text: AKT1: E17K

PubMed Link: 32997401

PubMed Central Link

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Integrated molecular characterization reveals potential therapeutic strategies for pulmonary sarcomatoid carcinoma.

Nature Communications

Z Yang, J Xu, L Li, R Li, Y Wang, Y Tian, W Guo, Z Wang, F Tan, J Ying, Y Jiao, S Gao, J Wang, Y Gao, J He

Publication Date: 2020-09-28

Variant appearance in text: AKT1: E17K

PubMed Link: 32985499

PubMed Central Link

Variant Present in the following documents:

• Main text
• Supplemental file

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Prevalence of Phosphatidylinositol-3-Kinase (PI3K) Pathway Alterations and Co-alteration of Other Molecular Markers in Breast Cancer.

Frontiers In Oncology

K Khoury, AR Tan, A Elliott, J Xiu, Z Gatalica, AL Heeke, C Isaacs, PR Pohlmann, LS Schwartzberg, M Simon, WM Korn, SM Swain, F Lynce

Publication Date: 2020

Variant appearance in text: AKT1: E17K

PubMed Link: 32983983

PubMed Central Link

Variant Present in the following documents:

• Main text

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High Sensitivity of Circulating Tumor Cells Derived from a Colorectal Cancer Patient for Dual Inhibition with AKT and mTOR Inhibitors.

Cells

DJ Smit, L Cayrefourcq, MT Haider, N Hinz, K Pantel, C Alix-Panabières, M Jücker

Publication Date: 2020-09-20

Variant appearance in text: AKT: E17K

PubMed Link: 32962206

PubMed Central Link

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Molecular target: pan-AKT in gastric cancer.

Esmo Open

BW Kang, I Chau

Publication Date: 2020-09

Variant appearance in text: AKT: E17K

PubMed Link: 32948630

PubMed Central Link

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Papillary-cystic neoplasms of the middle ear are distinct from endolymphatic sac tumours.

Histopathology

C Taverna, F Pollastri, R Pecci, B Giannoni, C Fattorini, M Santucci, SK Mueller, R Stoehr, A Franchi, A Agaimy

Publication Date: 2020-09-17

Variant appearance in text: AKT1: Glu17Lys

PubMed Link: 32940914

PubMed Central Link

Variant Present in the following documents:

• Supplemental file

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The mutational landscape of the SCAN-B real-world primary breast cancer transcriptome.

Embo Molecular Medicine

C Brueffer, S Gladchuk, C Winter, J Vallon-Christersson, C Hegardt, J Häkkinen, AM George, Y Chen, A Ehinger, C Larsson, N Loman, M Malmberg, L Rydén, Å Borg, LH Saal

Publication Date: 2020-10-07

Variant appearance in text: AKT1: E17K

PubMed Link: 32926574

PubMed Central Link

Variant Present in the following documents:

• Main text

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Cellular and molecular mechanisms of PIK3CA-related vascular anomalies.

Vascular Biology (Bristol, England)

TD Le Cras, E Boscolo

Publication Date: 2019

Variant appearance in text: AKT: E17K

PubMed Link: 32923951

PubMed Central Link

Variant Present in the following documents:

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

Jco Precision Oncology

B Kingston, C Bailleux, S Delaloge, G Schiavon, V Scott, M Lacroix-Triki, TH Carr, I Kozarewa, H Gevensleben, Z Kemp, A Pearson, N Turner, F André

Publication Date: 2019

Variant appearance in text: AKT: E17K

PubMed Link: 32923864

PubMed Central Link

Variant Present in the following documents:

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Prioritization of Therapy Options for a Patient With High Tumor Mutation Burden and Microsatellite Instability but No Clinical Benefit From Immunotherapy.

Jco Precision Oncology

RS Nelson, RJ Mehta, HL McLeod, CM Walko

Publication Date: 2019

Variant appearance in text: AKT1: E17K

PubMed Link: 32923851

PubMed Central Link

Variant Present in the following documents:

• Main text

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Circulating tumour DNA analysis to direct therapy in advanced breast cancer (plasmaMATCH): a multicentre, multicohort, phase 2a, platform trial.

The Lancet. Oncology

NC Turner, B Kingston, LS Kilburn, S Kernaghan, AM Wardley, IR Macpherson, RD Baird, R Roylance, P Stephens, O Oikonomidou, JP Braybrooke, M Tuthill, J Abraham, MC Winter, H Bye, M Hubank, H Gevensleben, R Cutts, C Snowdon, D Rea, D Cameron, A Shaaban, K Randle, S Martin, K Wilkinson, L Moretti, JM Bliss, A Ring

Publication Date: 2020-10

Variant appearance in text: AKT1: Glu17Lys

PubMed Link: 32919527

PubMed Central Link

Variant Present in the following documents:

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Evaluation of Commercial Circulating Tumor DNA Test in Metastatic Prostate Cancer.

Jco Precision Oncology

S Taavitsainen, M Annala, E Ledet, K Beja, PJ Miller, M Moses, M Nykter, KN Chi, O Sartor, AW Wyatt

Publication Date: 2019

Variant appearance in text: AKT1: E17K

PubMed Link: 32914020

PubMed Central Link

Variant Present in the following documents:

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De Novo ESR1 Hotspot Mutation in a Patient With Endometrial Cancer Treated With an Aromatase Inhibitor.

Jco Precision Oncology

A Morel, J Masliah-Planchon, G Bataillon, V Becette, C Morel, S Antonio, E Girard, I Bièche, C Le Tourneau, M Kamal

Publication Date: 2019

Variant appearance in text: AKT1: 49G>A; E17K

PubMed Link: 32914015

PubMed Central Link

Variant Present in the following documents:

• Main text

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Exploitation of Precision Medicine Trials Data: Examples of Long Responders From the SHIVA01 Trial.

Jco Precision Oncology

C Basse, C Morel, C Callens, G Pierron, V Servois, A Vincent-Salomon, A Jobard, M Alt, F Ricci, D Loirat, MP Sablin, M Bretagne, M Saint-Ghislain, S Hescot, A Gonçalves, O Tredan, C Dubot, C Gavoille, JP Delord, M Campone, N Isambert, L Belin, I Bieche, M Kamal, C Le Tourneau

Publication Date: 2018

Variant appearance in text: AKT1: Glu17Lys

PubMed Link: 32914004

PubMed Central Link

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Multiplex Gene Profiling of Cell-Free DNA in Patients With Metastatic Melanoma for Monitoring Disease.

Jco Precision Oncology

SY Lin, SK Huang, KT Huynh, MP Salomon, SC Chang, DM Marzese, RB Lanman, A Talasaz, DSB Hoon

Publication Date: 2018

Variant appearance in text: AKT1: E17K

PubMed Link: 32913981

PubMed Central Link

Variant Present in the following documents:

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PTEN Loss-of-Function Alterations Are Associated With Intrinsic Resistance to BRAF Inhibitors in Metastatic Melanoma.

Jco Precision Oncology

F Catalanotti, DT Cheng, AN Shoushtari, DB Johnson, KS Panageas, P Momtaz, C Higham, HH Won, JJ Harding, T Merghoub, N Rosen, JA Sosman, MF Berger, PB Chapman, DB Solit

Publication Date: 2017

Variant appearance in text: AKT: E17K

PubMed Link: 32913971

PubMed Central Link

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Polyphenolic Proanthocyanidin-B2 suppresses proliferation of liver cancer cells and hepatocellular carcinogenesis through directly binding and inhibiting AKT activity.

Redox Biology

G Liu, A Shi, N Wang, M Li, X He, C Yin, Q Tu, X Shen, Y Tao, Q Wang, H Yin

Publication Date: 2020-08-25

Variant appearance in text: AKT: E17K

PubMed Link: 32863234

PubMed Central Link

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Systems Biology Approaches Reveal Potential Phenotype-Modifier Genes in Neurofibromatosis Type 1.

Cancers

T Woycinck Kowalski, L Brussa Reis, T Finger Andreis, P Ashton-Prolla, C Rosset

Publication Date: 2020-08-26

Variant appearance in text: AKT1: E17K

PubMed Link: 32858845

PubMed Central Link

Variant Present in the following documents:

• Main text
• Supplemental file

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Assessing the Impact of Data Preprocessing on Analyzing Next Generation Sequencing Data.

Frontiers In Bioengineering And Biotechnology

B He, R Zhu, H Yang, Q Lu, W Wang, L Song, X Sun, G Zhang, S Li, J Yang, G Tian, P Bing, J Lang

Publication Date: 2020

Variant appearance in text: AKT: E17K

PubMed Link: 32850708

PubMed Central Link

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Clinical implications of prospective genomic profiling of metastatic breast cancer patients.

Breast Cancer Research : Bcr

CT van Geelen, P Savas, ZL Teo, SJ Luen, CF Weng, YA Ko, KS Kuykhoven, F Caramia, R Salgado, PA Francis, SJ Dawson, SB Fox, A Fellowes, S Loi

Publication Date: 2020-08-18

Variant appearance in text: AKT1: E17K

PubMed Link: 32811538

PubMed Central Link

Variant Present in the following documents:

• Main text
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Clinical Application of Targeted Deep Sequencing in Metastatic Colorectal Cancer Patients: Actionable Genomic Alteration in K-MASTER project.

Cancer Research And Treatment : Official Journal Of Korean Cancer Association

Y Lee, S Lee, JS Sung, HJ Chung, AR Lim, JW Kim, YJ Choi, KH Park, YH Kim

Publication Date: 2020-08-18

Variant appearance in text: AKT1: E17K

PubMed Link: 32810930

PubMed Central Link

Variant Present in the following documents:

• Main text
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Pathogenic postzygotic mosaicism in the tyrosine receptor kinase pathway: potential unidentified human disease hidden away in a few cells.

The Febs Journal

I Tiemann-Boege, T Mair, A Yasari, M Zurovec

Publication Date: 2020-08-18

Variant appearance in text: AKT1: E17K

PubMed Link: 32810928

PubMed Central Link

Variant Present in the following documents:

• Supplemental file

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Alternative transcript annotations:

Transcript	cDNA	Protein	Consequence	Exon	Intron
ENST00000349310.3	c.49G>A	p.Glu17Lys	missense_variant,splice_region_variant	4/15	-
ENST00000402615.2	c.49G>A	p.Glu17Lys	missense_variant,splice_region_variant	3/14	-
ENST00000407796.2	c.49G>A	p.Glu17Lys	missense_variant,splice_region_variant	3/14	-
ENST00000554581.1	c.49G>A	p.Glu17Lys	missense_variant,splice_region_variant	2/13	-
ENST00000554848.1	c.49G>A	p.Glu17Lys	missense_variant,splice_region_variant	3/14	-
ENST00000555380.1	c.-138G>A	-	splice_region_variant,5_prime_UTR_variant	2/5	-
ENST00000555528.1	c.49G>A	p.Glu17Lys	missense_variant,splice_region_variant	3/14	-
ENST00000555926.1	c.49G>A	p.Glu17Lys	missense_variant,splice_region_variant	4/5	-
NM_001014431.2	c.49G>A	p.Glu17Lys	missense_variant,splice_region_variant	3/14	-
NM_001014432.1	c.49G>A	p.Glu17Lys	missense_variant,splice_region_variant	4/15	-
NM_005163.2	c.49G>A	p.Glu17Lys	missense_variant,splice_region_variant	3/14	-