Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.T319_L320delFs
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PTEN

NM_000314.8:p.T319_L320delFs

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

Targeted RNA sequencing of thyroid tumors from individuals with PTEN hamartoma tumor syndrome reveals a unique transcriptome with a predominantly RAS-like expression profile.

Plitt G et al.

Surgery, 2026

SOMATIC GENE VARIANTS IN UNRESECTABLE CUTANEOUS MELANOMA CELLS AND DETECTION OF PHARMACOGENOMIC MARKERS: INFLUENCE ON STRATEGY OF EFFECTIVE CANCER TREATMENT.

Gulkovskyi R et al.

Experimental Oncology, 2025

Molecular analysis of the evolutionary history of endometrial and ovarian carcinoma in Lynch syndrome.

Kauppinen AK et al.

International Journal of Cancer, 2025

40772756 (PubMed )
Supplement: IJC-157-2294-s002.xlsx › A_Blood_as_normal

High Prevalence of Potential Molecular Therapeutic Targets in Poorly Differentiated Thyroid Carcinoma.

Zambelli V et al.

Endocrine Pathology, 2025

41123735 (PubMed )
Supplement: 12022_2025_9883_MOESM4_ESM.xlsx › Foglio1

Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.

Meintani A et al.

International Journal of Molecular Sciences, 2025

40649709 (PubMed )
Supplement: ijms-26-05930-s001.zip › SUPPLEMENTARY_TABLE_1.xlsx › Comparison_FFPE

Molecular and functional profiling unravels targetable vulnerabilities in colorectal cancer.

Vlachavas EI et al.

Molecular Oncology, 2025

39876058 (PubMed )
Supplement: MOL2-19-1751-s014.xlsx › Sheet_1

Artificial intelligence-driven microsatellite instability profiling reveals distinctive genetic features in patients with lung cancer.

Thomas QD et al.

Cancer, 2025

40297960 (PubMed )
Supplement: CNCR-131-e35882-s001.xlsx › Sup_Table_4

Comprehensive mapping elucidates high risk genotypes in primary metastatic breast cancer.

Berg T et al.

Neoplasia (new York, N.y.), 2025

40121945 (PubMed )
Supplement: mmc5.xlsx › Ark1

Comprehensive germline and somatic profiling of high-risk Thai breast cancer via next-generation sequencing.

Kamdee K et al.

Scientific Reports, 2025

40181060 (PubMed )
Supplement: 41598_2025_95834_MOESM2_ESM.xlsx › S._Data_4.

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

Genetic Alterations, Therapy Response, and Survival Among Patients With Triple-Negative Breast Cancer: A Secondary Analysis of a Randomized Clinical Trial.

Richters L et al.

Jama Network Open, 2025

40009381 (PubMed )
Supplement: jamanetwopen-e2461639-s002.pdf

Early Detection of the Pathogenetic Variants of Homologous Recombination Repair Genes in Prostate Cancer: Critical Analysis and Experimental Design.

Bottillo I et al.

Biology, 2025

Comparison of targeted next generation sequencing assays in non-small cell lung cancer patients.

Drejeriene I et al.

Discover Oncology, 2024

39692940 (PubMed )
Supplement: 12672_2024_1640_MOESM1_ESM.docx

Genomic Profiling in Glioma Patients to Explore Clinically Relevant Markers.

Varachev V et al.

International Journal of Molecular Sciences, 2024

39684714 (PubMed )
Supplement: ijms-25-13004-s001.zip › Table_S1._Examples_of_somatic_genetic_alterations_in_glioma_samples.xlsx › ____1

The Genomic Landscape of Benign and Malignant Thyroid Tumors from Individuals Carrying Germline PTEN Variants Is Distinct from Sporadic Thyroid Cancers.

Plitt G et al.

Cancer Research, 2024

Four cancer cases with pathological germline variant RAD51D c.270_271dup.

Ishihara E et al.

The Journal of Obstetrics and Gynaecology Research, 2024

Susceptibility gene mutations in germline and tumors of patients with HER2-negative advanced breast cancer.

Fasching PA et al.

Npj Breast Cancer, 2024

39003306 (PubMed )
Supplement: 41523_2024_667_MOESM1_ESM.pdf

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

Unravelling the role of PLK1 in tumorigenesis by revealing the mutational landscape of colorectal and lung cancer with PLK1 mutations.

Wang S et al.

Journal of Cellular and Molecular Medicine, 2024

38887977 (PubMed )
Supplement: JCMM-28-e18497-s002.xlsx › Sheet1

Genomic profiling and clinical utility of circulating tumor DNA in metastatic prostate cancer: SCRUM-Japan MONSTAR SCREEN project.

Shiota M et al.

Bjc Reports, 2024

39516321 (PubMed )
Supplement: 44276_2024_49_MOESM4_ESM.xlsx › supplementary_table_2

Fulvestrant and everolimus efficacy after CDK4/6 inhibitor: a prospective study with circulating tumor DNA analysis.

Vasseur A et al.

Oncogene, 2024

38413796 (PubMed )
Supplement: 41388_2024_2986_MOESM2_ESM.xlsx › Feuil1

Targeted next-generation sequencing of 491 lung cancers in clinical practice: Implications for future detection strategy and targeted therapy.

Liu XD et al.

Heliyon, 2024

38496837 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Expanding Broad Molecular Reflex Testing in Non-Small Cell Lung Cancer to Squamous Histology.

Zacharias M et al.

Cancers, 2024

38473263 (PubMed )
Supplement: cancers-16-00903-s001.zip › TableS2.xlsx › Tabelle

Functional Homologous Recombination (HR) Screening Shows the Majority of BRCA1/2-Mutant Breast and Ovarian Cancer Cell Lines Are HR-Proficient.

Meijer TG et al.

Cancers, 2024

38398132 (PubMed )
Supplement: cancers-16-00741-s001.zip › Table_S1-2_WES_results.xlsx › Table_S1

Molecular Characterization and Subtyping of Breast Cancer Cell Lines Provide Novel Insights into Cancer Relevant Genes.

Pommerenke C et al.

Cells, 2024

38391914 (PubMed )
Supplement: cells-13-00301-s001.zip › Table_S2.xlsx › Mutations

The Utility of NGS Analysis in Homologous Recombination Deficiency Tracking.

Tsantikidi A et al.

Diagnostics (basel, Switzerland), 2023

37761329 (PubMed )
Supplement: diagnostics-13-02962-s001.zip › supplementary__Table_S2.xlsx › Table_S2_Samples_analyzed

First case of endometrial cancer after yolk sac tumor in a patient with Li-Fraumeni syndrome.

Ye QL et al.

Bmc Women's Health, 2023

Molecular profiling of a real-world breast cancer cohort with genetically inferred ancestries reveals actionable tumor biology differences between European ancestry and African ancestry patient populations.

Miyashita M et al.

Breast Cancer Research : Bcr, 2023

37231433 (PubMed )
Supplement: 13058_2023_1627_MOESM4_ESM.xlsx › All_Subtypes__mutations_

Liquid Biopsy of Cerebrospinal Fluid Enables Selective Profiling of Glioma Molecular Subtypes at First Clinical Presentation.

Orzan F et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023

36648487 (PubMed )
Supplement: ccr-22-2903_supplementary_information_1_suppms1.pdf

Clinical utility of Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan.

Kage H et al.

Cancer Science, 2023

36601953 (PubMed )
Supplement: CAS-114-1710-s001.xlsx › Sup_Table_3

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

PTEN in triple-negative breast carcinoma: protein expression and genomic alteration in pretreatment and posttreatment specimens.

Chen H et al.

Therapeutic Advances in Medical 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

Investigation of Molecular Features Involved in Clinical Responses and Survival in Advanced Endometrial Carcinoma Treated by Hormone Therapy.

Neron M et al.

Journal of Personalized Medicine, 2022

35629078 (PubMed )
Supplement: jpm-12-00655-s001.zip › Supplementary_tables__MC20220419.xlsx › Table_S4

Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients.

Pena-Couso L et al.

Orphanet Journal of Rare Diseases, 2022

35227301 (PubMed )
Supplement: 13023_2021_2079_MOESM1_ESM.pdf

Germline breast cancer susceptibility genes, tumor characteristics, and survival.

Ho PJ et al.

Genome Medicine, 2021

34857041 (PubMed )
Supplement: 13073_2021_978_MOESM1_ESM.xlsx › sT2

Genetic Variants and Tumor Immune Microenvironment: Clues for Targeted Therapies in Inflammatory Breast Cancer (IBC).

Gong Y et al.

International Journal of Molecular Sciences, 2021

34445631 (PubMed )
Supplement: ijms-22-08924-s001.zip › Table_S2.pdf

Sensitivity, specificity, and accuracy of a liquid biopsy approach utilizing molecular amplification pools.

Garcia J et al.

Scientific Reports, 2021

34031447 (PubMed )
Supplement: 41598_2021_89592_MOESM1_ESM.xlsx › Supplementary_Table_S2

Chromosome 2q gain and epigenetic silencing of GATA3 in microglandular adenosis of the breast.

Radner M et al.

The Journal of Pathology. Clinical Research, 2021

33382535 (PubMed )
Supplement: CJP2-7-220-s002.xlsx › Table_S8

Genomic profile of advanced breast cancer in circulating tumour DNA.

Kingston B et al.

Nature Communications, 2021

33893289 (PubMed )
Supplement: 41467_2021_22605_MOESM4_ESM.xlsx › SNVs_Indels

Mutation-specific non-canonical pathway of PTEN as a distinct therapeutic target for glioblastoma.

Choi SW et al.

Cell Death & Disease, 2021

33828082 (PubMed )
Supplement: 41419_2021_3657_MOESM15_ESM.pdf

Distinct Somatic Alteration Features Identified by Gene Panel Sequencing in Korean Triple-Negative Breast Cancer with High Ki67 Expression.

Sun WY et al.

Diagnostics (basel, Switzerland), 2021

33804295 (PubMed )
Supplement: diagnostics-11-00416-s001.pdf

Integrated Analysis of Genomic and Immunological Features in Lung Adenocarcinoma With Micropapillary Component.

Zhang S et al.

Frontiers in Oncology, 2021

34221970 (PubMed )
Supplement: Table_5.xlsx › Supplementary_Table_S5

Profiling Receptor Tyrosine Kinase Fusions in Chinese Breast Cancers.

Tao Z et al.

Frontiers in Oncology, 2021

34650924 (PubMed )
Supplement: DataSheet_1.xlsx › mutation_list
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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."