Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.H93Y
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PTEN

NM_000314.8:p.H93Y

Associated Papers

Contribution of Germline Predisposition to Pediatric Thyroid Cancer.

Harrison C et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

PIK3CB Inhibitor GSK2636771 in Cancers With PTEN Mutation/Deletion or Loss of PTEN Protein Expression: Results From the NCI-MATCH ECOG-ACRIN Trial (EAY131) Subprotocols N and P.

Janku F et al.

Jco Precision Oncology, 2025

40865033 (PubMed )
Supplement: protocol1_PO-25-00265.pdf

Dominant Negative PTEN Alterations in Endometrial Carcinoma Are Associated With Retained Immunohistochemical PTEN Expression.

Keyhanian K et al.

The American Journal of Surgical Pathology, 2025

Allosteric modulation of NF1 GAP: Differential distributions of catalytically competent populations in loss-of-function and gain-of-function mutants.

Xu L et al.

Protein Science : a Publication of the Protein Society, 2025

Utilizing TP53 hotspot mutations as effective predictors of gemcitabine treatment outcome in non-small-cell lung cancer.

Tseng YH et al.

Cell Death Discovery, 2025

39870629 (PubMed )
Supplement: 41420_2025_2300_MOESM2_ESM.xlsx › Supplement_table_2

Pleiotropic tumor suppressive functions of PTEN missense mutations during gliomagenesis.

Jun HJ et al.

Iscience, 2024

39660053 (PubMed )
Supplement: mmc1.pdf

Colchicine prevents accelerated atherosclerosis in TET2-mutant clonal haematopoiesis.

Zuriaga MA et al.

European Heart Journal, 2024

39212933 (PubMed )
Supplement: ehae546_supplementary_data.pdf

Decoding PTEN: from biological functions to signaling pathways in tumors.

Huang X et al.

Molecular Biology Reports, 2024

Utilizing PTEN immunohistochemistry as a screening test for Cowden syndrome.

Hartsough E et al.

American Journal of Clinical Pathology, 2024

Molecular-based targeted therapies in patients with hepatocellular carcinoma and hepato-cholangiocarcinoma refractory to atezolizumab/bevacizumab.

Limousin W et al.

Journal of Hepatology, 2023

Genetic modification of inflammation- and clonal hematopoiesis-associated cardiovascular risk.

Yu Z et al.

The Journal of Clinical Investigation, 2023

37498674 (PubMed )
Supplement: jci-133-168597-s140.pdf

Long-term longitudinal analysis of 4,187 participants reveals new insights into determinants of incident clonal hematopoiesis.

Uddin MM et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37732181 (PubMed )
Supplement: media-2.xlsx › Table_S2

Characteristics and prognosis of rrDLBCL with TP53 mutations and a high-risk subgroup represented by the co-mutations of DDX3X-TP53.

Gao F et al.

Cancer Medicine, 2023

36971051 (PubMed )
Supplement: CAM4-12-10267-s001.xlsx › Sheet1

Clinical outcome and biomarker assessments of a multi-centre phase II trial assessing niraparib with or without dostarlimab in recurrent endometrial carcinoma.

Madariaga A et al.

Nature Communications, 2023

36922497 (PubMed )
Supplement: 41467_2023_37084_MOESM1_ESM.pdf

Molecular dynamic simulation and functional analysis of pathogenic PTEN mutations in glioblastoma.

Cetintas VB et al.

Journal of Biomolecular Structure & Dynamics, 2023

Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.

Chen JL et al.

Annual Review of Genomics and Human Genetics, 2022

36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › PTEN

Cancer-driving mutations are enriched in genic regions intolerant to germline variation.

Vitsios D et al.

Science Advances, 2022

36026442 (PubMed )
Supplement: sciadv.abo6371_tables_s1_to_s13.zip › sciadv.abo6371_tables_s1_to_s13.xlsx › S1

Case Series: Neurobehavioral Profile of Adolescents with PTEN Hamartoma Tumor Syndrome.

Hasler HM et al.

Journal of Pediatric Neuropsychology, 2022

Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.

Sobahy TM et al.

Bmc Medical Genomics, 2022

35468810 (PubMed )
Supplement: 12920_2022_1235_MOESM4_ESM.xlsx › Information

Comprehensive characterization of PTEN mutational profile in a series of 34,129 colorectal cancers.

Serebriiskii IG et al.

Nature Communications, 2022

35338148 (PubMed )
Supplement: 41467_2022_29227_MOESM6_ESM.xlsx › Supplemenraty_Data_3

Phase II Study of Taselisib in PIK3CA-Mutated Solid Tumors Other Than Breast and Squamous Lung Cancer: Results From the NCI-MATCH ECOG-ACRIN Trial (EAY131) Subprotocol I.

Krop IE et al.

Jco Precision Oncology, 2022

Application of liquid biopsy-based targeted capture sequencing analysis to improve the precision treatment of non-small cell lung cancer by tyrosine kinase inhibitors.

Zhang L et al.

Bmj Open Respiratory Research, 2022

Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

G V et al.

Frontiers in Genetics, 2022

36561320 (PubMed )
Supplement: Table3.xlsx › Sheet1

Mismatch Repair Deficiency and Somatic Mutations in Human Sinonasal Tumors.

Hieggelke L et al.

Cancers, 2021

34885191 (PubMed )
Supplement: cancers-13-06081-s001.zip › Table_S3_Targeted_panel_sequencing_result_of_sinonasal_tumor_cohort.pdf

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

Ganguly P et al.

Plos Genetics, 2021

34492006 (PubMed )
Supplement: pgen.1009774.s009.xlsx › Batch_3

Comprehensive characterization of 536 patient-derived xenograft models prioritizes candidatesfor targeted treatment.

Sun H et al.

Nature Communications, 2021

34429404 (PubMed )
Supplement: 41467_2021_25177_MOESM8_ESM.xlsx › Sheet1

Mutation-specific non-canonical pathway of PTEN as a distinct therapeutic target for glioblastoma.

Choi SW et al.

Cell Death & Disease, 2021

Mutation patterns in recurrent and/or metastatic oropharyngeal squamous cell carcinomas in relation to human papillomavirus status.

Reder H et al.

Cancer Medicine, 2021

33527763 (PubMed )
Supplement: CAM4-10-1347-s006.pdf

Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes

Doddato G et al.

Frontiers in Oncology, 2021

Distinguishing between PTEN clinical phenotypes through mutation analysis.

Portelli S et al.

Computational and Structural Biotechnology Journal, 2021

34141133 (PubMed )
Supplement: mmc1.docx

Genetic Landscape of Relapsed and Refractory Diffuse Large B-Cell Lymphoma: A Systemic Review and Association Analysis With Next-Generation Sequencing.

Gao F et al.

Frontiers in Genetics, 2021

34925435 (PubMed )
Supplement: DataSheet2.xlsx › Sheet1

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

Hong TH et al.

Journal for Immunotherapy of Cancer, 2020

33077514 (PubMed )
Supplement: jitc-2020-001199supp002.pdf

Detection of circulating tumor DNA in patients of operative colorectal and gastric cancers.

Suzuki T et al.

Oncotarget, 2020

32922660 (PubMed )
Supplement: oncotarget-11-3198-s002.xlsx › Table_1

Analyzing aggregation propensities of clinically relevant PTEN mutants: a new culprit in pathogenesis of cancer and other PTENopathies.

Palumbo E et al.

Journal of Biomolecular Structure & Dynamics, 2020

31232187 (PubMed )
Supplement: supplement_1.zip › Supplement_S4_mutants_nochange.xlsx › Mutants_no_change

Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction.

Post KL et al.

Nature Communications, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."