Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.R130fs
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PTEN

NM_000314.8:p.R130fs

Associated Papers

Coexistent PTEN and PIK3CA alterations hyperactivate mTORC1 signaling in endometrial cancers and cause their selective sensitivity to mTORC1 inhibition.

Solomon H et al.

Biorxiv : the Preprint Server for Biology, 2026

Comparative analysis of RNA expression in a single institution cohort of pediatric cancer patients.

Vasquez YA et al.

Npj Precision Oncology, 2025

40119139 (PubMed )
Supplement: 41698_2025_852_MOESM11_ESM.xlsx › Supplementary_Data_9

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

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 › Supplemental_Figure_3_OC_data

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

Michal M et al.

Genes, Chromosomes & Cancer, 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

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

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

Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups.

Miller EM et al.

Bmc Medical Genomics, 2020

33256706 (PubMed )
Supplement: 12920_2020_824_MOESM5_ESM.xlsx › Sheet1

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

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

Dual MAPK Inhibition Is an Effective Therapeutic Strategy for a Subset of Class II BRAF Mutant Melanomas.

Dankner M et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2018

Preclinical evaluation and reverse phase protein Array-based profiling of PI3K and MEK inhibitors in endometrial carcinoma in vitro.

Aslan O et al.

Bmc Cancer, 2018

Endometrial Cancers Harboring Mutated Fibroblast Growth Factor Receptor 2 Protein Are Successfully Treated With a New Small Tyrosine Kinase Inhibitor in an Orthotopic Mouse Model.

Taurin S et al.

International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society, 2018

Functional characterization of somatic mutations in cancer using network-based inference of protein activity.

Alvarez MJ et al.

Nature Genetics, 2016

27322546 (PubMed )
Supplement: NIHMS789775-supplement-1.pdf

Precise Classification of Cervical Carcinomas Combined with Somatic Mutation Profiling Contributes to Predicting Disease Outcome.

Spaans VM et al.

Plos One, 2015

Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

MacConaill LE et al.

The Journal of Molecular Diagnostics : Jmd, 2014

Mutational landscape and significance across 12 major cancer types.

Kandoth C et al.

Nature, 2013

24132290 (PubMed )
Supplement: 41586_2013_BFnature12634_MOESM82_ESM.zip › nature12634-s1 › Supplementary_Table_5.xlsx › S_Table_5

PI3K pathway dependencies in endometrioid endometrial cancer cell lines.

Weigelt B et al.

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

The mutational landscape of adenoid cystic carcinoma.

Ho AS et al.

Nature Genetics, 2013

Activity of the fibroblast growth factor receptor inhibitors dovitinib (TKI258) and NVP-BGJ398 in human endometrial cancer cells.

Konecny GE et al.

Molecular Cancer Therapeutics, 2013

Mutational profiling reveals PIK3CA mutations in gallbladder carcinoma.

Deshpande V et al.

Bmc Cancer, 2011

21303542 (PubMed )
Supplement: 1471-2407-11-60-S1.XLS › Table_1_OM3_core_sites

PTEN deficiency in endometrioid endometrial adenocarcinomas predicts sensitivity to PARP inhibitors.

Dedes KJ et al.

Science Translational Medicine, 2010

Profiling critical cancer gene mutations in clinical tumor samples.

MacConaill LE et al.

Plos One, 2009

19924296 (PubMed )
Supplement: pone.0007887.s002.xls › Table_S1_
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