Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.R233*
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PTEN

NM_000314.8:p.R233*

Associated Papers

Cowden Syndrome.

Tan YL et al.

The British Journal of Dermatology, 2026

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

Analysis of discordance between mismatch repair and microsatellite instability testing in endometrial cancer.

Xi Y et al.

Human Pathology, 2026

Common gene mutations in 103 authenticated colorectal cancer cell lines.

Kranjec C et al.

Oncogenesis, 2026

41593049 (PubMed )
Supplement: 41389_2026_599_MOESM2_ESM.xlsx › Supplementary_Table_10

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_S9

Decoding the Mutational Hierarchy of Thyroid Cancer and Associated Signaling Pathways.

Nashier D et al.

Archives of Medical Research, 2026

Distal noncontiguous recurrence and sarcomatous transformation of glioblastoma with stable molecular profile: illustrative case.

Howran J et al.

Journal of Neurosurgery. Case Lessons, 2026

Prenatal Diagnosis of Malformations of Cortical Development: A Review of Genetic and Imaging Advances.

Hu J et al.

Biomedicines, 2026

41595643 (PubMed )
Supplement: biomedicines-14-00107-s001.zip › Supplementary_File_S1.xlsx › Data_Extraction

Binimetinib and encorafenib for the treatment of advanced solid tumors with non-V600E BRAF mutations: results from the Phase II BEAVER trial.

Rose AAN et al.

Nature Communications, 2026

41484121 (PubMed )
Supplement: 41467_2025_68076_MOESM1_ESM.pdf

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

Tibarewal P et al.

Disease Models & Mechanisms, 2026

Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.

Nakata E et al.

Cancer Science, 2026

41128349 (PubMed )
Supplement: CAS-117-156-s003.xlsx › Sheet1

Analyzing the genetic profile of autistic children and adolescents with minimal verbal abilities.

Guerrera S et al.

Frontiers in Genetics, 2026

Clinical and genetic features of multiple primary tumours cohorts with a renal cell carcinoma: Implications for molecular genetic investigations.

Zhang H et al.

International Journal of Cancer, 2025

Loss of heterozygosity exposes germline mutations in complex I and drives Warburg metabolism in oncocytic carcinoma of the thyroid.

de la Calle Arregui C et al.

Biorxiv : the Preprint Server for Biology, 2025

Concurrent genomic assessment of circulating tumour cells and ctDNA to guide therapy in metastatic breast cancer.

Allsopp RC et al.

Bmc Cancer, 2025

41351070 (PubMed )
Supplement: 12885_2025_15187_MOESM1_ESM.zip › Supp_Table_1.xlsx › Sheet1

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

Blood-Based Genomic Alteration Signature for Predicting Progression-Free Survival in De Novo Metastatic Hormone-Sensitive Prostate Cancer: A Real-World Study.

Wang R et al.

Cancer Research Communications, 2025

41217768 (PubMed )
Supplement: crc-25-0384_supplementary_table_s2_suppst2.xlsx › Supplementary_Table_2

Enabling whole genome sequencing analysis from FFPE specimens in clinical oncology.

Domenico D et al.

Nature Communications, 2025

41309586 (PubMed )
Supplement: 41467_2025_65654_MOESM3_ESM.xlsx › Supplementary_Data_4

Unveiling splicing disruptions due to common somatic variants in acute myeloid leukemia.

Morote-Faubel M et al.

Human Genomics, 2025

41189001 (PubMed )
Supplement: 40246_2025_842_MOESM1_ESM.pdf

Renal haemangioblastoma: a clinicopathologic and molecular characterization of 8 cases supporting the presence of recurrent MTOR pathway alterations.

Rodriguez Pena MDC et al.

Histopathology, 2025

Clinical features, mutational landscape and their prognostic impact in Chinese paediatric patients with T-cell lymphoblastic lymphoma.

Li Y et al.

British Journal of Haematology, 2025

40958529 (PubMed )
Supplement: supplement_1.zip › Table_S3.xlsx › Sheet1

A subgroup of anaplastic thyroid carcinomas harbors MET alterations with potential therapeutic options.

Theurer S et al.

Pathology, Research and Practice, 2025

Systematic characterization of full-length RNA isoforms in human colorectal cancer at single-cell resolution.

Lu P et al.

Protein & Cell, 2025

Comprehensive genomic landscape of metastatic hormone-sensitive prostate cancer in the Chinese population.

Yang B et al.

World Journal of Surgical Oncology, 2025

41121095 (PubMed )
Supplement: 12957_2025_4049_MOESM3_ESM.xlsx › Somatic_mutations

First-Tier Versus Last-Tier Trio Whole-Genome Sequencing for the Diagnosis of Pediatric-Onset Rare Diseases.

Lucca C et al.

Clinical Genetics, 2025

40274276 (PubMed )
Supplement: CGE-108-412-s001.pdf

Germline Cancer Predisposition Results From the National Cancer Institute-Children's Oncology Group Pediatric MATCH Trial.

Scollon S et al.

Jco Precision Oncology, 2025

41166674 (PubMed )
Supplement: po-9-e2500742-s001.pdf

Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.

Abujamous L et al.

The Oncologist, 2025

40665690 (PubMed )
Supplement: oyaf205_supplementary_data.zip › SupplementaryTable3.xlsx › SupplementaryTable3

Mutation profile and chromosomal abnormality in adenomyosis.

Suda K et al.

Reproduction (cambridge, England), 2025

40679511 (PubMed )
Supplement: supplementary_tables_1-12.xlsx › Suppl.Table_5

Morphological, immunohistochemical and molecular analysis of follicular dendritic cell sarcomas: L1CAM as a new diagnostic marker.

Schelbert S et al.

Histopathology, 2025

40289262 (PubMed )
Supplement: HIS-87-258-s001.zip › his15458-sup-0003-Supplementary_Table_2-4_revised_changes_highlighted.xlsx › Table_S2

A base editing platform for the correction of cancer driver mutations unmasks conserved p53 transcription programs.

Wang P et al.

Genome Biology, 2025

Precancerous Cells Initiate Glioblastoma Evolution and Contribute to Intratumoral Heterogeneity.

Kim HJ et al.

Cancer Discovery, 2025

40233712 (PubMed )
Supplement: cd-24-0234_supplementary_figures_s1-s15_suppsf1.pdf

Pancreatic neuroendocrine neoplasms (pNENs): Genetic and environmental biomarkers for risk of occurrence and prognosis.

Tacelli M et al.

Seminars in Cancer Biology, 2025

Clinicopathological and molecular characterization of KRAS wild-type pancreatic ductal adenocarcinomas reveals precursor lesions with oncogenic mutations and fusions in RAS pathway genes.

Toriyama K et al.

The Journal of Pathology, 2025

40317966 (PubMed )
Supplement: PATH-266-337-s002.zip › path6432-sup-0003-TableS3.xlsx › Table_S3.1

A Rare Case of Primary Hepatic Undifferentiated Pleomorphic Sarcoma: Exploring Cancer-related Gene Mutations.

Suzuki H et al.

Internal Medicine (tokyo, Japan), 2025

Phenotypic Features of Fourteen Fetal Cases With a PTEN Variant.

Yu QX et al.

Prenatal Diagnosis, 2025

Systematic comprehension of genomics and mutational landscape of glioma: A goal towards advanced therapeutics.

Dakal TC et al.

Neuroscience, 2025

Therapeutic Potential of Translational Readthrough at Disease-Associated Premature Termination Codons From Tumor Suppressor Genes.

Torices L et al.

Iubmb Life, 2025

Performance Comparison of Droplet Digital PCR and Next-Generation Sequencing for Circulating Tumor DNA Detection in Non-Metastatic Rectal Cancer.

Szeto S et al.

Cancer Medicine, 2025

40346007 (PubMed )
Supplement: CAM4-14-e70943-s001.docx

Clinical-Genetic Approach to Conditions with Macrocephaly and ASD/Behaviour Abnormalities: Variants in PTEN and PPP2R5D Are the Most Recurrent Gene Mutations in a Patient-Oriented Diagnostic Strategy.

L'Erario FF et al.

Genes, 2025

Endometrial carcinomas with ambiguous histology often harbor TP53 mutations.

Davidson B et al.

Virchows Archiv : an International Journal of Pathology, 2025

39235515 (PubMed )
Supplement: 428_2024_3912_MOESM1_ESM.xlsx › Mutation_list

Small SNPs, Big Effects: A Review of Single Nucleotide Variations and Polymorphisms in Key Genes Associated With Autism Spectrum Disorder.

Srinath S et al.

International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2025

Comparative analysis of RNA expression in a single institution cohort of pediatric cancer patients.

Vasquez YA et al.

Npj Precision Oncology, 2025

40119139 (PubMed )
Supplement: 41698_2025_852_MOESM11_ESM.xlsx › Supplementary_Data_9

The Histomorphology to Molecular Transition: Exploring the Genomic Landscape of Poorly Differentiated Epithelial Endometrial Cancers.

Molefi T et al.

Cells, 2025

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

Li Q et al.

Pediatric Neurology, 2025

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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."