Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.V85Splc
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PTEN

NM_000314.8:p.V85Splc

Associated Papers

The breakome of BRCA1 and BRCA2 pathway mutation carriers reveals early processes in breast oncogenesis.

Oster Flayshman S et al.

Cell Death & Disease, 2025

41350536 (PubMed )
Supplement: 41419_2025_8235_MOESM1_ESM.zip › Supplementary_material › Table_5-_Cell_line_characteristics_table.xlsx › Sheet1

Ivabradine induces RAD51 degradation, potentiating PARP inhibitor efficacy in non-germline BRCA pathogenic variant triple-negative breast cancer.

Tsoi H et al.

Journal of Translational Medicine, 2025

40764992 (PubMed )
Supplement: 12967_2025_6902_MOESM4_ESM.xlsx › Sheet1

Genomic landscape and comparative analysis of tissue and liquid-based NGS in Taiwanese anaplastic thyroid carcinoma.

Yeh CN et al.

Npj Precision Oncology, 2025

39809865 (PubMed )
Supplement: 41698_2025_802_MOESM1_ESM.pdf

Functional Homologous Recombination (HR) Screening Shows the Majority of BRCA1/2-Mutant Breast and Ovarian Cancer Cell Lines Are HR-Proficient.

Meijer TG et al.

Cancers, 2024

38398132 (PubMed )
Supplement: cancers-16-00741-s001.zip › Table_S1-2_WES_results.xlsx › Table_S1

Variants in PTEN Are Associated With a Diverse Spectrum of Cortical Dysplasia.

Shelkowitz E et al.

Pediatric Neurology, 2023

Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.

Abul-Husn NS et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

36993157 (PubMed )
Supplement: media-2.xlsx › eTable_5

Discovering Synergistic Compounds with BYL-719 in PI3K Overactivated Basal-like PDXs.

Boyd DC et al.

Cancers, 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

Combined p53- and PTEN-deficiency activates expression of mesenchyme homeobox 1 (MEOX1) required for growth of triple-negative breast cancer.

Gasparyan M et al.

The Journal of Biological Chemistry, 2020

Activating PTEN Tumor Suppressor Expression with the CRISPR/dCas9 System.

Moses C et al.

Molecular Therapy. Nucleic Acids, 2019

30654190 (PubMed )
Supplement: mmc1.pdf

Identification of a novel truncating mutation in PALB2 gene by a multigene sequencing panel for mutational screening of breast cancer risk-associated and related genes.

Guacci A et al.

Journal of Clinical Laboratory Analysis, 2018

Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.

Chen HJ et al.

Human Mutation, 2017

PTEN status is a crucial determinant of the functional outcome of combined MEK and mTOR inhibition in cancer.

Milella M et al.

Scientific Reports, 2017

High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome.

Bubien V et al.

Journal of Medical Genetics, 2013

High levels of p110δ PI3K expression in solid tumor cells suppress PTEN activity, generating cellular sensitivity to p110δ inhibitors through PTEN activation.

Tzenaki N et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2012

Synthetic lethal targeting of PTEN mutant cells with PARP inhibitors.

Mendes-Pereira AM et al.

Embo Molecular Medicine, 2009

20049735 (PubMed )
Supplement: emmm0001-0315-SD1.pdf

Recurrent gross mutations of the PTEN tumor suppressor gene in breast cancers with deficient DSB repair.

Saal LH et al.

Nature Genetics, 2008

Exon expression arrays as a tool to identify new cancer genes.

Schutte M et al.

Plos One, 2007

Phosphatidylinositol-3-OH kinase or RAS pathway mutations in human breast cancer cell lines.

Hollestelle A et al.

Molecular Cancer Research : Mcr, 2007

Hamartoma and lentiginosis syndromes: clinical and molecular aspects.

Marsh DJ et al.

Frontiers of Hormone Research, 2001

Association of splicing defects in PTEN leading to exon skipping or partial intron retention in Cowden syndrome.

Celebi JT et al.

Human Genetics, 2000

Mutations of the human PTEN gene.

Bonneau D et al.

Human Mutation, 2000

Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations.

Nelen MR et al.

European Journal of Human Genetics : Ejhg, 1999

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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."