Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.Q97*
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PTEN

NM_000314.8:p.Q97*

Associated Papers

PRIME: an interpretable artificial intelligence model based on liquid biopsy improves prediction of progression risk in non-small cell lung cancer.

Wang Y et al.

Military Medical Research, 2026

41491583 (PubMed )
Supplement: 40779_2025_679_MOESM1_ESM.xlsx › Table_S8

PTEN hamartoma of soft tissue (PHOST) and fibroadipose vascular anomaly (FAVA): a comparative clinicopathologic and molecular analysis.

Xue S et al.

Virchows Archiv : an International Journal of Pathology, 2025

Somatic mutations in 3929 HPV positive cervical cells associated with infection outcome and HPV type.

Pinheiro M et al.

Nature Communications, 2024

39266536 (PubMed )
Supplement: 41467_2024_51713_MOESM5_ESM.xlsx › Data_2

PTEN hamartoma tumor syndrome: Clinical and genetic characterization in pediatric patients.

Martín-Valbuena J et al.

Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2024

Thyroid nodules with DICER1 mutation or PTEN alteration: A comparative cytologic, clinical, and molecular study of 117 FNA cases.

Jitpasutham T et al.

Cancer Cytopathology, 2024

Prevalent landscape of tumor genomic alterations of luminal B1 breast cancers using a comprehensive genomic profiling assay in Taiwan.

Chen BF et al.

Breast Cancer (tokyo, Japan), 2024

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 › Fig3B_EC_data

PTEN hamartoma tumour syndrome: case report based on data from the Iranian hereditary colorectal cancer registry and literature review.

Rahmatinejad Z et al.

Diagnostic Pathology, 2023

A Case of Cowden Syndrome Presenting with Diverse Cutaneous Manifestations.

Lee J et al.

Annals of Dermatology, 2023

PTEN regulates proliferation and osteogenesis of dental pulp cells and adipogenesis of human adipose-derived stem cells.

Nowwarote N et al.

Oral Diseases, 2023

Clinical and molecular characteristics of kinase domain duplications across diverse cancer types in the Chinese population.

Lai X et al.

Cancer Medicine, 2023

36325957 (PubMed )
Supplement: CAM4-12-6009-s003.xlsx › Table_S2

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

Interrogating glioma-M2 macrophage interactions identifies Gal-9/Tim-3 as a viable target against PTEN-null glioblastoma.

Ni X et al.

Science Advances, 2022

35857445 (PubMed )
Supplement: sciadv.abl5165_sm.pdf

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.

Bariatric Surgery for Cowden Syndrome with PTEN Mutation: a Case Report.

Jang HN et al.

Obesity Surgery, 2021

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

Sequencing and curation strategies for identifying candidate glioblastoma treatments.

Frank MO et al.

Bmc Medical Genomics, 2019

The genomic landscape of cutaneous SCC reveals drivers and a novel azathioprine associated mutational signature.

Inman GJ et al.

Nature Communications, 2018

30202019 (PubMed )
Supplement: 41467_2018_6027_MOESM16_ESM.xlsx › Sheet1

Multi-focal sequencing of a diffuse intrinsic pontine glioma establishes PTEN loss as an early event.

Koschmann C et al.

Npj Precision Oncology, 2017

Genetic Investigation of Uterine Carcinosarcoma: Case Report and Cohort Analysis.

Hembree TN et al.

Cancer Control : Journal of the Moffitt Cancer Center, 2016

Potentially functional SNPs (pfSNPs) as novel genomic predictors of 5-FU response in metastatic colorectal cancer patients.

Wang J et al.

Plos One, 2014

25372392 (PubMed )
Supplement: pone.0111694.s006.pdf

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."