Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.E256K
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PTEN

NM_000314.8:p.E256K

Associated Papers

Identification of actionable targets using DEPArray-based sorting of pure carcinoma and stromal populations from formalin-fixed paraffin-embedded tissues followed by shallow whole-genome sequencing.

Nteliopoulos G et al.

The Journal of Pathology, 2026

41144934 (PubMed )
Supplement: PATH-268-13-s002.xlsx › Table_S4

Somatic mutations in 3929 HPV positive cervical cells associated with infection outcome and HPV type.

Pinheiro M et al.

Nature Communications, 2024

39266536 (PubMed )
Supplement: 41467_2024_51713_MOESM5_ESM.xlsx › Data_2

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

Diagnostic Utility of Next-Generation Sequencing in Circulating Free DNA and a Comparison With Matched Tissue in Gallbladder Carcinoma.

Mishra S et al.

Laboratory Investigation; a Journal of Technical Methods and Pathology, 2024

The repertoire of germline variants in patients with early-onset rectal cancer.

Beltrami CM et al.

Cancer Communications (london, England), 2022

35029067 (PubMed )
Supplement: CAC2-42-481-s003.xlsx › Supp._Table_S3

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

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

Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma.

Winter H et al.

Cancers, 2019

31795195 (PubMed )
Supplement: cancers-11-01895-s001.zip › ICC_ctDNA_Cancers_Supplementary_Table_5._50_cancer_gene_panel_information.xlsx › cms_106003

Assessment of epigenetic alterations and in silico analysis of mutation affecting PTEN expression among Indian cervical cancer patients.

Naseem A et al.

Journal of Cellular Biochemistry, 2019

Clinical Implications of Plasma-Based Genotyping With the Delivery of Personalized Therapy in Metastatic Non-Small Cell Lung Cancer.

Aggarwal C et al.

Jama Oncology, 2019

Targeted molecular profiling of rare genetic alterations in colorectal cancer using next-generation sequencing.

Jauhri M et al.

Medical Oncology (northwood, London, England), 2016

Cell-free DNA mutations as biomarkers in breast cancer patients receiving tamoxifen.

Jansen MP et al.

Oncotarget, 2016

27270325 (PubMed )
Supplement: oncotarget-07-43412-s002.xlsx › 2015nov19_additional_table_A3

High-throughput profiling identifies clinically actionable mutations in salivary duct carcinoma.

Ku BM et al.

Journal of Translational Medicine, 2014

Validation and utilisation of high-coverage next-generation sequencing to deliver the pharmacological audit trail.

Ong M et al.

British Journal of Cancer, 2014

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

The structural impact of cancer-associated missense mutations in oncogenes and tumor suppressors.

Stehr H et al.

Molecular Cancer, 2011

21575214 (PubMed )
Supplement: 1476-4598-10-54-S3.XLS › mutations.txt

PTEN mutation spectrum in breast cancers and breast hyperplasia.

Yang J et al.

Journal of Cancer Research and Clinical Oncology, 2010

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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."