Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.P95L
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PTEN

NM_000314.8:p.P95L

Associated Papers

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

Colchicine prevents accelerated atherosclerosis in TET2-mutant clonal haematopoiesis.

Zuriaga MA et al.

European Heart Journal, 2024

39212933 (PubMed )
Supplement: ehae546_supplementary_data.pdf

Patient-derived tumor organoids mimic treatment-induced DNA damage response in glioblastoma.

Majc B et al.

Iscience, 2024

39252971 (PubMed )
Supplement: mmc2.xlsx › Sheet1

Genomic profiling of ovarian clear cell carcinoma in Chinese patients reveals potential prognostic biomarkers for survival.

Ye S et al.

Annals of Medicine, 2023

37272300 (PubMed )
Supplement: IANN_A_2218104_SM2772.xlsx › mutation

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

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

Clear cell mesotheliomas with inactivating VHL mutations and near-haploid genomic features.

Michal M et al.

Genes, Chromosomes & Cancer, 2023

vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.

Munté E et al.

Bioinformatics (oxford, England), 2023

36916756 (PubMed )
Supplement: btad128_supplementary_data.zip › btad128_Supplementary_Data › Supplementary_tables10022023.xlsx › ST11-PTEN

Druggable genomic landscapes of high-grade gliomas.

Ghanem P et al.

Frontiers in Medicine, 2023

38143440 (PubMed )
Supplement: Table_1.xlsx › ST5

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

Catch them if you are aware: PTEN postzygotic mosaicism in clinically suspicious patients with PTEN Hamartoma Tumour Syndrome and literature review.

Hendricks LAJ et al.

European Journal of Medical Genetics, 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_MOESM3_ESM.xlsx › OncoKB_unspecified-alterations.

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

Pathogenic nsSNPs that increase the risks of cancers among the Orang Asli and Malays.

Khoruddin NA et al.

Scientific Reports, 2021

34373545 (PubMed )
Supplement: 41598_2021_95618_MOESM1_ESM.xlsx › Training_Dataset

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_

Invasive apocrine carcinoma of the breast: clinicopathologic features and comprehensive genomic profiling of 18 pure triple-negative apocrine carcinomas.

Sun X et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020

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

Genomic Database Analysis of Uterine Leiomyosarcoma Mutational Profile.

Astolfi A et al.

Cancers, 2020

32751892 (PubMed )
Supplement: cancers-12-02126-s001.zip › cancers-864725-supple › cancers-864725-supple-proofed.xlsx › Table_S2

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

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

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

A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children.

Hansen-Kiss E et al.

Journal of Medical Genetics, 2017

Mutations of CREBBP and SOCS1 are independent prognostic factors in diffuse large B cell lymphoma: mutational analysis of the SAKK 38/07 prospective clinical trial cohort.

Juskevicius D et al.

Journal of Hematology & Oncology, 2017

28302137 (PubMed )
Supplement: 13045_2017_438_MOESM1_ESM.xlsx › Selected_mutations_2016.08.22

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 › driver_

Comparative genomic analysis of primary tumors and metastases in breast cancer.

Bertucci F et al.

Oncotarget, 2016

27028851 (PubMed )
Supplement: oncotarget-07-27208-s001.pdf

Tumor genetic analyses of patients with metastatic melanoma treated with the BRAF inhibitor dabrafenib (GSK2118436).

Nathanson KL et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2013

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › COSMIC

A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes.

Rodríguez-Escudero I et al.

Human Molecular Genetics, 2011

Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features.

Pilarski R et al.

Journal of Medical Genetics, 2011

Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers.

Heald B et al.

Gastroenterology, 2010

Mutations of the human PTEN gene.

Bonneau D et al.

Human Mutation, 2000

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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."