Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.E242*
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PTEN

NM_000314.8:p.E242*

Associated Papers

Evolution and Co-occurrence of PI3K Pathway Gene Mutations in Endometrial Carcinoma Molecular Subtypes at the Single-Cell Level.

Da Cruz Paula A et al.

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

Longitudinal multimodal profiling of IDH-wildtype glioblastoma reveals the molecular evolution and cellular phenotypes underlying prognostically different treatment responses.

Lucas CG et al.

Neuro-oncology, 2025

39560080 (PubMed )
Supplement: noae214_suppl_supplementary_tables.xlsx › Table_S5

Genomic and transcriptomic profiles associated with response to eribulin and nivolumab combination in HER-2-negative metastatic breast cancer.

Park C et al.

Cancer Immunology, Immunotherapy : Cii, 2024

39105849 (PubMed )
Supplement: 262_2024_3782_MOESM1_ESM.pdf

Thyroid nodules with DICER1 mutation or PTEN alteration: A comparative cytologic, clinical, and molecular study of 117 FNA cases.

Jitpasutham T et al.

Cancer Cytopathology, 2024

Targeted next-generation sequencing of 491 lung cancers in clinical practice: Implications for future detection strategy and targeted therapy.

Liu XD et al.

Heliyon, 2024

38496837 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Expanding Broad Molecular Reflex Testing in Non-Small Cell Lung Cancer to Squamous Histology.

Zacharias M et al.

Cancers, 2024

38473263 (PubMed )
Supplement: cancers-16-00903-s001.zip › TableS2.xlsx › Tabelle

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

Identification of cancer driver mutations in liquid-based cytology samples for the screening of endometrial diseases.

Matsuura M et al.

Bjc Reports, 2023

39516270 (PubMed )
Supplement: 44276_2023_20_MOESM3_ESM.xlsx › Table_S6

Concordance between cancer gene alterations in tumor and circulating tumor DNA correlates with poor survival in a real-world precision-medicine population.

Rosenberg S et al.

Molecular Oncology, 2023

36694946 (PubMed )
Supplement: MOL2-17-1844-s003.xlsx › 2a.Studied_gene

Loss of CDKN2A/B is a Molecular Marker of High-grade Histology and is Associated with Aggressive Behavior in Acinic Cell Carcinoma.

Dogan S et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2023

Pure and mixed clear cell carcinoma of the endometrium: A molecular and immunohistochemical analysis study.

Reijnen C et al.

Cancer Medicine, 2023

37081760 (PubMed )
Supplement: CAM4-12-12365-s001.pdf

Genomics of Breast Cancer Brain Metastases: A Meta-Analysis and Therapeutic Implications.

Nguyen TT et al.

Cancers, 2023

Novel anti-PTEN C2 domain monoclonal antibodies to analyse the expression and function of PTEN isoform variants.

Torices L et al.

Plos One, 2023

Co-existence of 2 clinically significant variants causing disorders of somatic mosaicism.

Cao Y et al.

Genetics in Medicine Open, 2023

Uterine lavage identifies cancer mutations and increased TP53 somatic mutation burden in individuals with ovarian cancer.

Ghezelayagh TS et al.

Cancer Research Communications, 2022

36311816 (PubMed )
Supplement: crc-22-0314-s02.xlsx › Table_S6_List_of_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

Detection of oncogenic and clinically actionable mutations in cancer genomes critically depends on variant calling tools.

Garcia-Prieto CA et al.

Bioinformatics (oxford, England), 2022

35512388 (PubMed )
Supplement: btac306_supplementary_data.zip › Supplementary_files.zip › Supplementary_files › Supplementary_file_9.xlsx › Sheet1

The evolution of RET inhibitor resistance in RET-driven lung and thyroid cancers.

Rosen EY et al.

Nature Communications, 2022

35304457 (PubMed )
Supplement: 41467_2022_28848_MOESM1_ESM.pdf

Discordance of PIK3CA and TP53 mutations between breast cancer brain metastases and matched primary tumors.

Thulin A et al.

Scientific Reports, 2021

34876602 (PubMed )
Supplement: 41598_2021_2903_MOESM1_ESM.xlsx › Blad1

Genetic heterogeneity during breast cancer progression in young patients.

Hagio K et al.

Breast (edinburgh, Scotland), 2021

IGF2 is a potential factor in RAI-refractory differentiated thyroid cancer.

Crezee T et al.

Oncology Letters, 2021

Hedgehog Pathway Alterations Downstream of Patched-1 Are Common in Infundibulocystic Basal Cell Carcinoma.

Russell-Goldman E et al.

The American Journal of Dermatopathology, 2021

The transcriptional landscape of Shh medulloblastoma.

Skowron P et al.

Nature Communications, 2021

33741928 (PubMed )
Supplement: 41467_2021_21883_MOESM5_ESM.xlsx › _B__Functional_Mutations

Clinical implications of plasma circulating tumor DNA in gynecologic cancer patients.

Charo LM et al.

Molecular Oncology, 2021

32881280 (PubMed )
Supplement: MOL2-15-67-s001.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_

Molecular profiling identifies synchronous endometrial and ovarian cancers as metastatic endometrial cancer with favorable clinical outcome.

Reijnen C et al.

International Journal of Cancer, 2020

32022266 (PubMed )
Supplement: IJC-147-478-s001.pdf

Ultra-Mutation in IDH Wild-Type Glioblastomas of Patients Younger than 55 Years is Associated with Defective Mismatch Repair, Microsatellite Instability, and Giant Cell Enrichment.

Barresi V et al.

Cancers, 2019

31480372 (PubMed )
Supplement: cancers-11-01279-s001.xlsx › S2_mutations

Targeted sequencing with a customized panel to assess histological typing in endometrial carcinoma.

Cuevas D et al.

Virchows Archiv : an International Journal of Pathology, 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

Lung cancer in never smokers from the Princess Margaret Cancer Centre.

Korpanty GJ et al.

Oncotarget, 2018

29854298 (PubMed )
Supplement: oncotarget-09-22559-s001.pdf

Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

Tatton-Brown K et al.

American Journal of Human Genetics, 2017

28475857 (PubMed )
Supplement: mmc2.xlsx › Supplementary_Table_1
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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."