Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.G129R
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PTEN

NM_000314.8:p.G129R

Associated Papers

Impaired nuclear PTEN function drives macrocephaly, lymphadenopathy and late-onset cancer in PTEN hamartoma tumour syndrome.

Tibarewal P et al.

Disease Models & Mechanisms, 2026

Ancestry-dependent patterns of somatic mosaicism and clonal hematopoiesis mutations in over 125,000 individuals reveal distinct cancer associations.

Colin-Leitzinger C et al.

Human Genomics, 2025

41331781 (PubMed )
Supplement: 40246_2025_847_MOESM1_ESM.pdf

Long read sequencing reveals novel genomic and epigenomic alterations in repetitive regions of high grade serous ovarian cancer.

Takamatsu S et al.

Scientific Reports, 2025

41168225 (PubMed )
Supplement: 41598_2025_21907_MOESM2_ESM.xlsx › SupTable_somatic_pathogenic_mut

Multigene germline and somatic testing for epithelial ovarian cancer in China.

Li L et al.

Npj Precision Oncology, 2025

40804290 (PubMed )
Supplement: 41698_2025_1074_MOESM1_ESM.pdf

PIK3CB Inhibitor GSK2636771 in Cancers With PTEN Mutation/Deletion or Loss of PTEN Protein Expression: Results From the NCI-MATCH ECOG-ACRIN Trial (EAY131) Subprotocols N and P.

Janku F et al.

Jco Precision Oncology, 2025

40865033 (PubMed )
Supplement: protocol1_PO-25-00265.pdf

BRD2 Bromodomain-Mediated Regulation of Cell State Plasticity Modulates Therapy Response in Glioblastoma.

Vadla R et al.

Neuro-oncology, 2025

Clonal hematopoiesis is associated with distinct rheumatoid arthritis phenotypes.

Hiitola E et al.

Science Advances, 2025

40305610 (PubMed )
Supplement: sciadv.adt9846_tables_s1_to_s13.zip › adt9846_tables_s1_to_s13.xlsx › S4

Folliculin (FLCN) in Thyroid Tumors: Incidence, Significance, and Role as a Driver Gene and Secondary Alteration.

Hassan FA et al.

Current Oncology (toronto, Ont.), 2025

Peripheral blood somatic mosaicism and clonal hematopoiesis across ancestry backgrounds.

Colin-Leitzinger C et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40166537 (PubMed )
Supplement: media-1.pdf

Glioblastoma, IDH-Wildtype With Epithelioid Morphology and a BCR::NTRK2 Fusion.

Umeres-Francia GE et al.

International Journal of Surgical Pathology, 2025

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

Li Q et al.

Pediatric Neurology, 2025

Clinicopathogenomic analysis of PI3K/AKT/PTEN-altered luminal metastatic breast cancer in Japan.

Tada H et al.

Breast Cancer (tokyo, Japan), 2025

Unveiling immunogenic characteristics and neoantigens in endometrial cancer with POLE hotspot mutations for improved immunotherapy.

Huang J et al.

Frontiers in Immunology, 2025

39931062 (PubMed )
Supplement: Table1.xlsx › Sheet1

Comprehensive computational analysis of deleterious nsSNPs in PTEN gene for structural and functional insights.

Sharma D et al.

Molecular Biology Research Communications, 2025

Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.

Yu J et al.

Frontiers in Oncology, 2025

41179686 (PubMed )
Supplement: Table3.xls › Mutations_in_35d_TISF

Pleiotropic tumor suppressive functions of PTEN missense mutations during gliomagenesis.

Jun HJ et al.

Iscience, 2024

39660053 (PubMed )
Supplement: mmc1.pdf

Beyond HRD Status: Unraveling Genetic Variants Impacting PARP Inhibitor Sensitivity in Advanced Ovarian Cancer.

Kjeldsen MK et al.

Cancer Research Communications, 2024

39591206 (PubMed )
Supplement: crc-24-0294_supplementarygenetable_s1_suppst1.xlsx › SupplementaryGeneTableS1

PD-L1 and nectin-4 expression and genomic characterization of bladder cancer with divergent differentiation.

Martini DJ et al.

Cancer, 2024

Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.

Padigepati SR et al.

Human Genetics, 2024

39085601 (PubMed )
Supplement: 439_2024_2691_MOESM2_ESM.xlsx › PTEN

PTEN-mediated dephosphorylation of 53BP1 confers cellular resistance to DNA damage in cancer cells.

He J et al.

Molecular 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

Identification of cancer driver mutations in liquid-based cytology samples for the screening of endometrial diseases.

Matsuura M et al.

Bjc Reports, 2023

39516270 (PubMed )
Supplement: 44276_2023_20_MOESM3_ESM.xlsx › Table_S3

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

Branchioma with a nested/organoid morphology: molecular profiling of a distinctive potentially misleading variant and reappraisal of potential relationship to CD34-positive/Rb1-deficient tumors of the neck.

Baněčková M et al.

Virchows Archiv : an International Journal of Pathology, 2023

Variants in PTEN Are Associated With a Diverse Spectrum of Cortical Dysplasia.

Shelkowitz E et al.

Pediatric Neurology, 2023

Classification of PTEN missense VUS through exascale simulations.

Sinha S et al.

Briefings in Bioinformatics, 2023

Reciprocal negative feedback regulation of ATF6α and PTEN promotes prostate cancer progression.

Feng T et al.

Cellular and Molecular Life Sciences : Cmls, 2023

Concordance between cancer gene alterations in tumor and circulating tumor DNA correlates with poor survival in a real-world precision-medicine population.

Rosenberg S et al.

Molecular Oncology, 2023

36694946 (PubMed )
Supplement: MOL2-17-1844-s003.xlsx › 2a.Studied_gene

Genetic mutations in smoking-associated prostate cancer.

Elshafei A et al.

The Prostate, 2023

Glioblastoma Mesenchymal Transition and Invasion are Dependent on a NF-κB/BRD2 Chromatin Complex.

Vadla R et al.

Biorxiv : the Preprint Server for Biology, 2023

Clinical, pathological, and comprehensive molecular analysis of the uterine clear cell carcinoma: a retrospective national study from TMRG and GINECO network.

Nigon E et al.

Journal of Translational Medicine, 2023

37353806 (PubMed )
Supplement: 12967_2023_4264_MOESM5_ESM.xlsx › Feuil1

Comparison of clinicopathological and genomic profiles in anal squamous cell carcinoma between Japanese and Caucasian cohorts.

Ito T et al.

Scientific Reports, 2023

36869079 (PubMed )
Supplement: 41598_2023_30624_MOESM2_ESM.xlsx › Table_S3

Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Keskin Karakoyun H et al.

Frontiers in Genetics, 2023

36896237 (PubMed )
Supplement: Table1.xlsx › clinvar_breastcancer_allvariant

Tracking tumor evolution during the first-line treatment in brain glioma via serial profiling of cell-free tumor DNA from tumor in situ fluid.

Sheng Z et al.

Frontiers in Oncology, 2023

37920153 (PubMed )
Supplement: Table_1.xlsx › Table_S4.__Targetable_variants

PTEN loss drives resistance to the neddylation inhibitor MLN4924 in glioblastoma and can be overcome with TOP2A inhibitors.

Ferdosi SR et al.

Neuro-oncology, 2022

Smurf1 Suppression Enhances Temozolomide Chemosensitivity in Glioblastoma by Facilitating PTEN Nuclear Translocation.

Dong L et al.

Cells, 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

Comprehensive characterization of PTEN mutational profile in a series of 34,129 colorectal cancers.

Serebriiskii IG et al.

Nature Communications, 2022

35338148 (PubMed )
Supplement: 41467_2022_29227_MOESM6_ESM.xlsx › Supplemenraty_Data_3

PTEN/PI3K/Akt pathway alters sensitivity of T-cell acute lymphoblastic leukemia to L-asparaginase.

Hlozkova K et al.

Scientific Reports, 2022

Phase II Study of Taselisib in PIK3CA-Mutated Solid Tumors Other Than Breast and Squamous Lung Cancer: Results From the NCI-MATCH ECOG-ACRIN Trial (EAY131) Subprotocol I.

Krop IE et al.

Jco Precision Oncology, 2022

Integrating thousands of PTEN variant activity and abundance measurements reveals variant subgroups and new dominant negatives in cancers.

Matreyek KA et al.

Genome Medicine, 2021

A scalable Drosophila assay for clinical interpretation of human PTEN variants in suppression of PI3K/AKT induced cellular proliferation.

Ganguly P et al.

Plos Genetics, 2021

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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."