Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.N323fs
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PTEN

NM_000314.8:p.N323fs

Associated Papers

Genomic Profiling of Pediatric Solid Tumors With a Dual DNA/RNA Panel: JCCG-TOP2 Study.

Tao K et al.

Cancer Science, 2026

41249692 (PubMed )
Supplement: CAS-117-522-s002.xlsx › Table_S4

Individualized management strategies for advanced non-small cell lung cancer with EGFR exon 19 deletion and L861Q compound mutations based on circulating tumor DNA monitoring: A case report.

Zhu X et al.

Oncology Letters, 2026

41509005 (PubMed )
Supplement: Supplementary_Data2.pdf

Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.

Li S et al.

Nature Communications, 2025

41261115 (PubMed )
Supplement: 41467_2025_65164_MOESM6_ESM.xlsx › Figure_3C

Evolution and Co-occurrence of PI3K Pathway Gene Mutations in Endometrial Carcinoma Molecular Subtypes at the Single-Cell Level.

Da Cruz Paula A et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

Distinct genomic subgroups and mutational patterns in undifferentiated/dedifferentiated endometrial carcinoma.

Huang CY et al.

Bmc Cancer, 2025

41068688 (PubMed )
Supplement: 12885_2025_15053_MOESM2_ESM.xlsx › Table.S4

Detection of PTEN Mutations in Fine Needle Aspiration Biopsies of Indeterminate Thyroid Nodules: Impact on Diagnosis and Prognosis.

Schlegel LE et al.

Head & Neck, 2025

Exploring the Genetic and Clinical Landscape of Dedifferentiated Endometrioid Carcinoma.

Haraga H et al.

International Journal of Molecular Sciences, 2025

40362376 (PubMed )
Supplement: ijms-26-04137-s001.zip › Supplementary_Table_S1.xlsx › Case3_undifferentiated

Refined variant calling pipeline on RNA-seq data of breast cancer cell lines without matched-normal samples.

Eberth S et al.

Bmc Research Notes, 2025

39955561 (PubMed )
Supplement: 13104_2025_7140_MOESM2_ESM.xlsx › cosmic_mut_bc_mut_gatk_hc_dbsnp

Epilepsy and Developmental Delay in Pediatric Patients With PTEN Variants and a Literature Review.

Li Q et al.

Pediatric Neurology, 2025

Identification and characterization of ADAR1 mutations and changes in gene expression in human cancers.

Valentine A et al.

Cancer Genetics, 2024

Analytical Performance Evaluation of a 523-Gene Circulating Tumor DNA Assay for Next-Generation Sequencing-Based Comprehensive Tumor Profiling in Liquid Biopsy Samples.

Harter J et al.

The Journal of Molecular Diagnostics : Jmd, 2024

Quadruple primary tumors in a lynch syndrome patient surviving more than 26 years with genetic analysis: a case report and literature review.

Zhu B et al.

Frontiers in Oncology, 2024

Neurodevelopmental disorders and cancer networks share pathways, but differ in mechanisms, signaling strength, and outcome.

Yavuz BR et al.

Npj Genomic Medicine, 2023

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

Prospective clinical sequencing of 1016 Chinese prostate cancer patients: uncovering genomic characterization and race disparity.

Wei Y et al.

Molecular Oncology, 2023

37584393 (PubMed )
Supplement: MOL2-17-2183-s002.xlsx › Table_S6

Pleomorphic giant cell carcinoma of the prostate: clinicopathologic analysis and oncological outcomes.

Bilé-Silva A et al.

Virchows Archiv : an International Journal of Pathology, 2023

Molecular profiling of solid tumors by next-generation sequencing: an experience from a clinical laboratory.

Bhai P et al.

Frontiers in Oncology, 2023

37483495 (PubMed )
Supplement: Table_6.xlsx › Comprehensive_panel

Case report: Target and immunotherapy of a lung adenocarcinoma with enteric differentiation, EGFR mutation, and high microsatellite instability.

Yang M et al.

Frontiers in Immunology, 2023

38332908 (PubMed )
Supplement: Table_1.xlsx › Sheet1

Looking closely at overgrowth: Constitutional mosaicism in PTEN hamartoma tumor syndrome.

Newman H et al.

Clinical Genetics, 2022

Uterine lavage identifies cancer mutations and increased TP53 somatic mutation burden in individuals with ovarian cancer.

Ghezelayagh TS et al.

Cancer Research Communications, 2022

36311816 (PubMed )
Supplement: crc-22-0314-s02.xlsx › Table_S6_List_of_mutations

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

NTRK fusion positive colorectal cancer is a unique subset of CRC with high TMB and microsatellite instability.

Wang H et al.

Cancer Medicine, 2022

35506567 (PubMed )
Supplement: CAM4-11-2541-s004.pdf

Detection of oncogenic and clinically actionable mutations in cancer genomes critically depends on variant calling tools.

Garcia-Prieto CA et al.

Bioinformatics (oxford, England), 2022

35512388 (PubMed )
Supplement: btac306_supplementary_data.zip › Supplementary_files.zip › Supplementary_files › Supplementary_file_9.xlsx › Sheet1

Mosaicism in PTEN-new case and comment on the literature.

Rofes P et al.

European Journal of Human Genetics : Ejhg, 2022

JAK3 mutations and mitochondrial apoptosis resistance in T-cell acute lymphoblastic leukemia.

Bodaar K et al.

Leukemia, 2022

35411095 (PubMed )
Supplement: NIHMS1792675-supplement-Supplementary_Table_2.xlsx › Sheet_1

Progressing Vulvar Melanoma Caused by Instability in cKIT Juxtamembrane Domain: A Case Report and Review of Literature.

Englert-Golon M et al.

Current Oncology (toronto, Ont.), 2022

Clinical and genomic features of Chinese lung cancer patients with germline mutations.

Peng W et al.

Nature Communications, 2022

35273153 (PubMed )
Supplement: 41467_2022_28840_MOESM7_ESM.xlsx › Sheet1

An EGFR L858R mutation identified in 1862 Chinese NSCLC patients can be a promising neoantigen vaccine therapeutic strategy.

Lin J et al.

Frontiers in Immunology, 2022

36505399 (PubMed )
Supplement: Table_2.xlsx › vars__fs_

Tumor genomic profiling and personalized tracking of circulating tumor DNA in Vietnamese colorectal cancer patients.

Nguyen HT et al.

Frontiers in Oncology, 2022

36578946 (PubMed )
Supplement: DataSheet_2.xlsx › Variants_detected_in_FFPE

Distinct genomic profile in h. pylori-associated gastric cancer.

Zhang X et al.

Cancer Medicine, 2021

33751865 (PubMed )
Supplement: CAM4-10-2461-s001.xlsx › somatic_muts.gastric_samples.le

A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.

Xiao J et al.

Bmc Cancer, 2021

33726687 (PubMed )
Supplement: 12885_2021_7942_MOESM3_ESM.xlsx › Table_S2

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_

Next-Generation Sequencing Reveals a Very Low Prevalence of Deleterious Mutations of Homologous Recombination Repair Genes and Homologous Recombination Deficiency in Ovarian Clear Cell Carcinoma.

Liu H et al.

Frontiers in Oncology, 2021

35096598 (PubMed )
Supplement: Table_2.xlsx › HRR_mutation_with_III

Squamous cell transformation as a mechanism of acquired resistance to tyrosine kinase inhibitor in EGFR-mutated lung adenocarcinoma: a report of two cases.

Uruga H et al.

Respirology Case Reports, 2020

Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Dong X et al.

Communications Biology, 2020

31925297 (PubMed )
Supplement: 42003_2019_736_MOESM10_ESM.xlsx › Sheet1

Quantitative next-generation sequencing-based analysis indicates progressive accumulation of microsatellite instability between atypical hyperplasia/endometrial intraepithelial neoplasia and paired endometrioid endometrial carcinoma.

Chapel DB et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2019

DNA damage repair alterations are frequent in prostatic adenocarcinomas with focal pleomorphic giant-cell features.

Lotan TL et al.

Histopathology, 2019

Heterogeneous pathway activation and drug response modelled in colorectal-tumor-derived 3D cultures.

Schumacher D et al.

Plos Genetics, 2019

30925167 (PubMed )
Supplement: pgen.1008076.s007.xlsx › S2_Table

Fanconi-BRCA pathway mutations in childhood T-cell acute lymphoblastic leukemia.

Pouliot GP et al.

Plos One, 2019

31721781 (PubMed )
Supplement: pone.0221288.s012.xlsx › Sheet_1

Clinically Actionable Insights into Initial and Matched Recurrent Glioblastomas to Inform Novel Treatment Approaches.

Ellis HP et al.

Journal of Oncology, 2019

32082376 (PubMed )
Supplement: 4878547.f1.zip › 4878547.f1 › Ellis_et_al_SNVs_041018_Supplementary_Tables.xlsx › TableS7_TCGA_mutatons

Hedgehog pathway mutations drive oncogenic transformation in high-risk T-cell acute lymphoblastic leukemia.

Burns MA et al.

Leukemia, 2018

29654263 (PubMed )
Supplement: NIHMS944706-supplement-Table_S2.xlsx › Table_S2

EGFR feedback-inhibition by Ran-binding protein 6 is disrupted in cancer.

Oldrini B et al.

Nature Communications, 2017

29229958 (PubMed )
Supplement: 41467_2017_2185_MOESM8_ESM.xlsx › Table_S7

Circulating Tumor DNA Analysis and Functional Imaging Provide Complementary Approaches for Comprehensive Disease Monitoring in Metastatic Melanoma.

Wong SQ et al.

Jco Precision Oncology, 2017

Molecular Pathology of Anaplastic Thyroid Carcinomas: A Retrospective Study of 144 Cases.

Bonhomme B et al.

Thyroid : Official Journal of the American Thyroid Association, 2017

28351340 (PubMed )
Supplement: sj-pdf-1-thy-10.1089_thy.2016.0254.pdf

Mutational profiling of colorectal cancers with microsatellite instability.

Lin EI et al.

Oncotarget, 2015

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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."