Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.L139*
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PTEN

NM_000314.8:p.L139*

Associated Papers

Comprehensive genomic characterization of sporadic synchronous colorectal cancer: Implications for treatment optimization and clinical outcome.

Yang LP et al.

Cell Reports. Medicine, 2023

37794586 (PubMed )
Supplement: mmc4.xlsx › TCGA_path_oncokb

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

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

Evolution of intra-tumoral heterogeneity across different pathological stages in papillary thyroid carcinoma.

Affinito O et al.

Cancer Cell International, 2022

35996174 (PubMed )
Supplement: 12935_2022_2680_MOESM5_ESM.xlsx › Stage2

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.

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

34492006 (PubMed )
Supplement: pgen.1009774.s009.xlsx › Read_me

Genetic alteration of Chinese patients with rectal mucosal melanoma.

Li H et al.

Bmc Cancer, 2021

34044811 (PubMed )
Supplement: 12885_2021_8383_MOESM1_ESM.xlsx › Supplementary_Table_1

Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Hescheler DA et al.

Frontiers in Endocrinology, 2021

34630336 (PubMed )
Supplement: Table_1.xlsx › Tab3

Loss of FBXW7-mediated degradation of BRAF elicits resistance to BET inhibitors in adult T cell leukemia cells.

Yeh CH et al.

Molecular Cancer, 2020

A case of Cowden syndrome with a novel mutation in the PTEN gene.

Kawase Y et al.

The Journal of Medical Investigation : Jmi, 2020

Autism Spectrum Disorder and miRNA: An Overview of Experimental Models.

Schepici G et al.

Brain Sciences, 2019

PTEN gene mutations in patients with macrocephaly and classic autism: A systematic review.

Zahedi Abghari F et al.

Medical Journal of the Islamic Republic of Iran, 2019

Analysis of Tissue and Circulating Tumor DNA by Next-Generation Sequencing of Hepatocellular Carcinoma: Implications for Targeted Therapeutics.

Ikeda S et al.

Molecular Cancer Therapeutics, 2018

Next-Generation Sequencing of Circulating Tumor DNA Reveals Frequent Alterations in Advanced Hepatocellular Carcinoma.

Ikeda S et al.

The Oncologist, 2018

The driver landscape of sporadic chordoma.

Tarpey PS et al.

Nature Communications, 2017

29026114 (PubMed )
Supplement: 41467_2017_1026_MOESM1_ESM.pdf

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

Hansen-Kiss E et al.

Journal of Medical Genetics, 2017

Molecular analysis of aggressive renal cell carcinoma with unclassified histology reveals distinct subsets.

Chen YB et al.

Nature Communications, 2016

27713405 (PubMed )
Supplement: ncomms13131-s3.xlsx › All_mutations

Loss of switch/sucrose non-fermenting complex protein expression is associated with dedifferentiation in endometrial carcinomas.

Karnezis AN et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2016

The diagnostic application of RNA sequencing in patients with thyroid cancer: an analysis of 851 variants and 133 fusions in 524 genes.

Pagan M et al.

Bmc Bioinformatics, 2016

26818556 (PubMed )
Supplement: 12859_2015_849_MOESM3_ESM.pdf

A 50-Year-Old Woman With Cowden Syndrome and Joint Pains.

Sagar V et al.

Arthritis Care & Research, 2015

Genomic landscape of salivary gland tumors.

Kato S et al.

Oncotarget, 2015

26247885 (PubMed )
Supplement: oncotarget-06-25631-s002.xlsx › Sheet1

Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.

Spinelli L et al.

Journal of Medical Genetics, 2015

25527629 (PubMed )
Supplement: jmedgenet-2014-102803-s1.pdf

Alterations of INPP4B, PIK3CA and pAkt of the PI3K pathway are associated with squamous cell carcinoma of the lung.

Stjernström A et al.

Cancer Medicine, 2014

Autism genetics.

Persico AM et al.

Behavioural Brain Research, 2013

Molecular alterations in endometrial archived liquid-based cytology.

Di Lorito A et al.

Diagnostic Cytopathology, 2013

Sensitivity to the MEK inhibitor E6201 in melanoma cells is associated with mutant BRAF and wildtype PTEN status.

Byron SA et al.

Molecular Cancer, 2012

Genetic alterations of PTEN in human melanoma.

Aguissa-Touré AH et al.

Cellular and Molecular Life Sciences : Cmls, 2012

The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.

Varga EA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2009

Identification of ARHGEF17, DENND2D, FGFR3, and RB1 mutations in melanoma by inhibition of nonsense-mediated mRNA decay.

Bloethner S et al.

Genes, Chromosomes & Cancer, 2008

Protein phosphatase 2A is a negative regulator of IL-2 production in patients with systemic lupus erythematosus.

Katsiari CG et al.

The Journal of Clinical Investigation, 2005

Loss of a single allele of SHIP exacerbates the immunopathology of Pten heterozygous mice.

Moody JL et al.

Genes and Immunity, 2003

CCND1- and ERBB2-gene deregulation and PTEN mutation analyses in invasive lobular carcinoma of the breast.

Mercapide J et al.

Molecular Carcinogenesis, 2002

Mutation analysis of the PTEN / MMAC1 gene in Japanese patients with Cowden disease.

Sawada T et al.

Japanese Journal of Cancer Research : Gann, 2000

Effect of nonsense mutations on PTEN mRNA stability.

Raizis AM et al.

Human Genetics, 2000

Mutations of the human PTEN gene.

Bonneau D et al.

Human Mutation, 2000

Mutational spectra of PTEN/MMAC1 gene: a tumor suppressor with lipid phosphatase activity.

Ali IU et al.

Journal of the National Cancer Institute, 1999

Identification of a novel PTEN mutation (L139X) in a patient with Cowden disease and Sjögren's syndrome.

Raizis AM et al.

Molecular Pathology : Mp, 1998

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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."