Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.E256*
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PTEN

NM_000314.8:p.E256*

Associated Papers

Concordance and Clinical Significance of Genomic Alterations in Progressive Tumor Tissue and Matched Circulating Tumor DNA in Aggressive-variant Prostate Cancer.

Wang R et al.

Cancer Research Communications, 2023

37877742 (PubMed )
Supplement: crc-23-0175-s02.xls › Supplementary_Table_2

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

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

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 global analysis of the reconstitution of PTEN function by translational readthrough of PTEN pathogenic premature termination codons.

Luna S et al.

Human Mutation, 2021

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_

DNA polymerase ε and δ exonuclease domain mutations in endometrial cancer.

Church DN et al.

Human Molecular Genetics, 2013

23528559 (PubMed )
Supplement: supp_ddt131_ddt131supp.pdf

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

Bubien V et al.

Journal of Medical Genetics, 2013

The impact of NOTCH1, FBW7 and PTEN mutations on prognosis and downstream signaling in pediatric T-cell acute lymphoblastic leukemia: a report from the Children's Oncology Group.

Larson Gedman A et al.

Leukemia, 2009

Molecular alterations associated with cyclin D1 overexpression in endometrial cancer.

Moreno-Bueno G et al.

International Journal of Cancer, 2004

PTEN: one gene, many syndromes.

Eng C

Human Mutation, 2003

Mutations of the human PTEN gene.

Bonneau D et al.

Human Mutation, 2000

Identification of PTEN mutations in five families with Bannayan-Zonana syndrome.

Tok Celebi J et al.

Experimental Dermatology, 1999

Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype.

Longy M et al.

Journal of Medical Genetics, 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."