Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.V290fs
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PTEN

NM_000314.8:p.V290fs

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

Comprehensive genomic profiling of Taiwanese triple-negative breast cancer samples with medium- and large-sized sequencing panels: A comparative study implicating treatment allocations.

Huang CC et al.

Biomedical Reports, 2025

40831628 (PubMed )
Supplement: Supplementary_Data1.pdf

Comprehensive genomic profiling of Taiwanese triple-negative breast cancer with a large targeted sequencing panel.

Huang CC et al.

Journal of the Chinese Medical Association : Jcma, 2025

Establishment and validation of preclinical models of SMARCA4-inactivated and ARID1A/ARID1B co-inactivated dedifferentiated endometrial carcinoma.

Wong NKY et al.

Gynecologic Oncology, 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

Genomic landscape of the immunogenicity regulation in skin melanomas with diverse tumor mutation burden.

Georgoulias G et al.

Frontiers in Immunology, 2022

36389735 (PubMed )
Supplement: Table_7.xlsx › PTEN

CDKN2A loss-of-function predicts immunotherapy resistance in non-small cell lung cancer.

Gutiontov SI et al.

Scientific Reports, 2021

34625620 (PubMed )
Supplement: 41598_2021_99524_MOESM2_ESM.xlsx › Mutations

Case Report: Double Germline Mutations in BRCA1 and MSH2 in a Patient With Mixed Serous-Endometrioid Endometrial Carcinoma.

Zheng H et al.

Frontiers in Medicine, 2020

33224963 (PubMed )
Supplement: Table_1.XLSX › Sheet1

Recurrent hotspot SF3B1 mutations at codon 625 in vulvovaginal mucosal melanoma identified in a study of 27 Australian mucosal melanomas.

Quek C et al.

Oncotarget, 2019

30847022 (PubMed )
Supplement: oncotarget-10-930-s001.pdf

Oncogenic c-terminal cyclin D1 (CCND1) mutations are enriched in endometrioid endometrial adenocarcinomas.

Xu J et al.

Plos One, 2018

A novel molecular diagnostics platform for somatic and germline precision oncology.

Cabanillas R et al.

Molecular Genetics & Genomic Medicine, 2017

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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."