Associated Papers
Impaired nuclear PTEN function drives macrocephaly, lymphadenopathy and late-onset cancer in PTEN hamartoma tumour syndrome.
Tibarewal P et al.
Disease Models & Mechanisms, 2026
41215730 (PubMed )
Supplement: dmm-19-052527-TableS8.xlsx › Table_S8
Concurrent genomic assessment of circulating tumour cells and ctDNA to guide therapy in metastatic breast cancer.
Allsopp RC et al.
Bmc Cancer, 2025
41351070 (PubMed )
Supplement: 12885_2025_15187_MOESM1_ESM.zip › Supp_Table_1.xlsx › Sheet1
Molecular analysis of the evolutionary history of endometrial and ovarian carcinoma in Lynch syndrome.
Kauppinen AK et al.
International Journal of Cancer, 2025
40772756 (PubMed )
Supplement: IJC-157-2294-s002.xlsx › A_Blood_as_normal
Integrative Neoepitope Discovery in Glioblastoma via HLA Class I Profiling and AlphaFold2-Multimer.
Francés R et al.
Biomedicines, 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
Pleiotropic tumor suppressive functions of PTEN missense mutations during gliomagenesis.
Jun HJ et al.
Iscience, 2024
PIK3CA Mutations and Co-Mutations in Operated Non-Small Cell Lung Carcinoma.
Cokpinar S et al.
Journal of Clinical Medicine, 2024
39685930 (PubMed )
Supplement: jcm-13-07472-s001.zip › jcm-3207376-supplementary.pdf
Genomic profiling and clinical utility of circulating tumor DNA in metastatic prostate cancer: SCRUM-Japan MONSTAR SCREEN project.
Shiota M et al.
Bjc Reports, 2024
39516321 (PubMed )
Supplement: 44276_2024_49_MOESM4_ESM.xlsx › supplementary_table_2
Exploring Co-occurring POLE Exonuclease and Non-exonuclease Domain Mutations and Their Impact on Tumor Mutagenicity.
Shah SM et al.
Cancer Research Communications, 2024
38282550 (PubMed )
Supplement: crc-23-0312-s02.xlsx › Fig3B_EC_data
Source, co-occurrence, and prognostic value of PTEN mutations or loss in colorectal cancer.
Serebriiskii IG et al.
Npj Genomic Medicine, 2023
38001126 (PubMed )
Supplement: 41525_2023_384_MOESM1_ESM.xlsx › Table_S6
Analysis of circulating tumor DNA during checkpoint inhibition in metastatic melanoma using a tumor-agnostic panel.
Kisistók J et al.
Melanoma Research, 2023
37294123 (PubMed )
Supplement: mr-33-364-s001.xlsx › Supplementary5_nonSNPVariants
Pilot clinical trial and phenotypic analysis in chemotherapy-pretreated, metastatic triple-negative breast cancer patients treated with oral TAK-228 and TAK-117 (PIKTOR) to increase DNA damage repair deficiency followed by cisplatin and nab paclitaxel.
Lang JD et al.
Biomarker Research, 2023
37491309 (PubMed )
Supplement: 40364_2023_511_MOESM16_ESM.xlsx › 09JM
Plasma ctDNA increases tissue NGS-based detection of therapeutically targetable mutations in lung cancers.
Xie J et al.
Bmc Cancer, 2023
37004022 (PubMed )
Supplement: 12885_2023_10674_MOESM1_ESM.xlsx › data
In-depth characterization of intratumoral heterogeneity in refractory B-cell non-Hodgkin lymphoma through the lens of a Research Autopsy Program.
Isaev K et al.
Haematologica, 2023
35734926 (PubMed )
Supplement: 2022_280900_ISAEV_TABS3_SUPPL.xlsx › Sheet1
Molecular dynamic simulation and functional analysis of pathogenic PTEN mutations in glioblastoma.
Cetintas VB et al.
Journal of Biomolecular Structure & Dynamics, 2023
RB1 aberrations predict outcomes of immune checkpoint inhibitor combination therapy in NSCLC.
Wang Q et al.
Frontiers in Oncology, 2023
37441425 (PubMed )
Supplement: Table_3.xlsx › mutations
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
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
Genomic landscape of gliosarcoma: distinguishing features and targetable alterations.
Zaki MM et al.
Scientific Reports, 2021
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.s010.xlsx › Annotation_of_PTEN_variants
A Genome-Wide Profiling of Glioma Patients with an IDH1 Mutation Using the Catalogue of Somatic Mutations in Cancer Database.
Pappula AL et al.
Cancers, 2021
34503108 (PubMed )
Supplement: cancers-13-04299-s001.zip › Supplemental_Tables_final.xlsx › Table_S11
Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors.
Akolkar D et al.
Plos One, 2021
33556149 (PubMed )
Supplement: pone.0246048.s008.xlsx › Sheet1
Distinguishing between PTEN clinical phenotypes through mutation analysis.
Portelli S et al.
Computational and Structural Biotechnology Journal, 2021
34141133 (PubMed )
Supplement: mmc1.docx
Identification of the Prognostic Signatures of Glioma With Different PTEN Status.
Zhang P et al.
Frontiers in Oncology, 2021
34336645 (PubMed )
Supplement: DataSheet_2.zip › Supplementary_Table_2.xlsx › TCGA_
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
Next-generation sequencing analysis of endometrial screening liquid-based cytology specimens: a comparative study to tissue specimens.
Akahane T et al.
Bmc Medical Genomics, 2020
32652986 (PubMed )
Supplement: 12920_2020_753_MOESM1_ESM.xlsx › Sheet1
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
Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.
Dong X et al.
Communications Biology, 2020
31925297 (PubMed )
Supplement: 42003_2019_736_MOESM10_ESM.xlsx › Sheet1
The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.
Punta M et al.
Frontiers in Immunology, 2020
33133066 (PubMed )
Supplement: Table_1.xlsx › Drivers-not-HR
Correlation of genetic alterations by whole-exome sequencing with clinical outcomes of glioblastoma patients from the Lebanese population.
Saadeh FS et al.
Plos One, 2020
33237934 (PubMed )
Supplement: pone.0242793.s003.xlsx › Sheet1
Predicting the Disease Risk of Protein Mutation Sequences With Pre-training Model.
Li K et al.
Frontiers in Genetics, 2020
33408741 (PubMed )
Supplement: Table_3.XLSX › Sheet2
Integrating a Large Next-Generation Sequencing Panel into the Clinical Diagnosis of Gliomas Provides a Comprehensive Platform for Classification from FFPE Tissue or Smear Preparations.
Parilla M et al.
Journal of Neuropathology and Experimental Neurology, 2019
Clinically Actionable Insights into Initial and Matched Recurrent Glioblastomas to Inform Novel Treatment Approaches.
Ellis HP et al.
Journal of Oncology, 2019
32082376 (PubMed )
Supplement: 4878547.f1.zip › 4878547.f1 › Ellis_et_al_SNVs_041018_Supplementary_Tables.xlsx › TableS7_TCGA_mutatons
Analytic validation and real-time clinical application of an amplicon-based targeted gene panel for advanced cancer.
Wing MR et al.
Oncotarget, 2017
29100271 (PubMed )
Supplement: oncotarget-08-75822-s008.xlsx › S7._167_patients
Genomic Profiling of Large-Cell Neuroendocrine Carcinoma of the Lung.
Miyoshi T et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017
27507618 (PubMed )
Supplement: 10780432ccr160355-sup-162074_1_supp_3593422_88n10b.xlsx › Supplementary_Table_4
Genomic Analysis of Uterine Lavage Fluid Detects Early Endometrial Cancers and Reveals a Prevalent Landscape of Driver Mutations in Women without Histopathologic Evidence of Cancer: A Prospective Cross-Sectional Study.
Nair N et al.
Plos Medicine, 2016
28027320 (PubMed )
Supplement: pmed.1002206.s015.xlsx › potential_drivers
Structural mutation analysis of PTEN and its genotype-phenotype correlations in endometriosis and cancer.
Smith IN et al.
Proteins, 2016
Hidden association of Cowden syndrome, PTEN mutation and meningioma frequency.
Yakubov E et al.
Oncoscience, 2016
27489861 (PubMed )
Supplement: oncoscience-03-149-s001.pdf
Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.
Spinelli L et al.
Journal of Medical Genetics, 2015
25527629 (PubMed )
Supplement: jmedgenet-2014-102803-s1.pdf
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