Varaico: Literature-Extracted Genetic Variants

Gene:PIK3CA
Variant:p.H1047L
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PIK3CA

NM_006218.4:p.H1047L

Associated Papers

A droplet digital LAMP-based lab-on-a-disc system for multiplex allele-specific detection of tumor-derived DNA mutations.

Lu H et al.

Biosensors & Bioelectronics, 2026

Dideoxy Sequencing Enhances Detection of KIT Mutations in Gastrointestinal Stromal Tumors Initially Evaluated by Next-Generation Sequencing Hotspot Panels.

Robinson L et al.

The Journal of Molecular Diagnostics : Jmd, 2026

Analytical and clinical validation of a novel CE-IVD kit for PIK3CA hotspot mutations in liquid biopsy samples.

Stergiopoulou D et al.

The Journal of Liquid Biopsy, 2026

Pan-cancer inference and validation of hypermorphic, hypomorphic and neomorphic mutations.

Tagore S et al.

Nature Genetics, 2026

Molecular Landscape of Resected Thymomas: Insights from Mutational Profiling.

Frasca L et al.

Diagnostics (basel, Switzerland), 2026

PIK3CA Alterations in NSCLC: Clinical Characteristics of a "Neglected" Population of Oncogene-Addicted Patients.

Rossi S et al.

Biomedicines, 2026

Genomic landscape of metastatic breast cancers in young adults: a liquid biopsy analysis of women aged 20-40 years.

Diab E et al.

Breast (edinburgh, Scotland), 2026

Alpelisib, a PI3Kα inhibitor, effectively treats vascular anomalies with diverse genotypes and phenotypes.

Pithadia DJ et al.

Blood Vessels, Thrombosis & Hemostasis, 2026

Establishment of a Large-Scale PDX Library of Head and Neck Cancers for Functional Precision Oncology.

Yanagi H et al.

Cancer Medicine, 2026

41709080 (PubMed )
Supplement: CAM4-15-e71521-s001.xlsx › SupplementaryTableS2

Molecular Characterization of Vascular Anomalies Tissues Guides Clinical Diagnosis.

Henslee SB et al.

Lymphatic Research and Biology, 2026

Association of TIGIT and CD155 with KRAS, NRAS, BRAF, PIK3CA, and AKT Gene Mutations, MSI Status, and Cytokine Profiles in Colorectal Cancer.

Ochman B et al.

International Journal of Molecular Sciences, 2026

Systematic evaluation of neoepitope predictions challenges clinically observed T-cell responses and their impact on immune evasion.

Zaghla BKQ et al.

Journal for Immunotherapy of Cancer, 2026

Integrating ctDNA Dynamics and Sequential Organoid Drug Screening Enhances Breast Cancer Treatment Efficacy.

Liu J et al.

Cancer Research, 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

Tumor-normal sequencing reveals novel TP53 germline and clinically actionable somatic mutations in Nigerian breast cancer patients.

Onyia AF et al.

Cancer Genetics, 2026

Case Report: Mixed ductal-lobular carcinoma consisting of invasive lobular carcinoma with a glycogen-rich clear cell pattern and elevated tumor mutation burden.

Kawachi K et al.

Frontiers in Oncology, 2026

Clonal Dynamics and Molecular Heterogeneity of Metaplastic Breast Cancer: Focus on TP53 and PIK3CA Truncal Mutations.

Ye R et al.

Breast Cancer (dove Medical Press), 2026

Ultra-deep targeted next-generation sequencing with peripheral blood in patients with vascular malformations: a cohort of 40 patients.

Mitamura S et al.

Molecular Biology Reports, 2025

The power of five - inositol polyphosphate 5-phosphatase gene mutations at the intersection of development and disease.

McGrath MJ et al.

Febs Letters, 2025

Assessing endocrine resistance: monitoring circulating ESR1 mutations in Irosustat-treated ER positive breast cancer.

Page K et al.

Breast Cancer Research and Treatment, 2025

41364261 (PubMed )
Supplement: 10549_2025_7857_MOESM7_ESM.xlsx › Supp_Table_4

Mosaic hotspot PIK3CA mutations cause non-cell-autonomous vascular overgrowth and pan-lineage dysregulation at disease onset.

Brunsdon H 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

A prospective, multicenter, comprehensive genomic profile signature study in patients with EGFR-mutant advanced non-small cell lung cancer at the first-line treatment failure of osimertinib.

Shi Y et al.

Signal Transduction and Targeted Therapy, 2025

41326340 (PubMed )
Supplement: 41392_2025_2481_MOESM1_ESM.docx

ctDNA detectability and representativeness in seven body liquids from patients with metastatic breast cancer.

Richard F et al.

Nature Communications, 2025

Understanding the conformational dynamics of PI3Kα due to helical domain mutations: insights from Markov state model analysis.

Jani V et al.

Molecular Diversity, 2025

Personalized and Tumor Informed Circulating Tumor DNA Assay for Molecular Residual Disease Monitoring of Solid Malignancies.

Liu L et al.

Medcomm, 2025

41346570 (PubMed )
Supplement: MCO2-6-e70483-s002.xlsx › Tumour_cellularity

DNA polymerase epsilon-mutant colorectal cancers: Insights into non-exonuclease domain mutation variants, microsatellite instability status, and co-mutation profiles.

Taskiran I et al.

World Journal of Gastroenterology, 2025

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

PIK3CA-Related Phenotypes due to Germline and Somatic Mosaic Variants: A two-Case Report.

Acikgoz NB et al.

Molecular Syndromology, 2025

Comprehensive molecular landscape of anal squamous cell carcinoma: analysis of tissue and liquid biopsies from 1844 patients.

Smolenschi C et al.

Npj Precision Oncology, 2025

41286505 (PubMed )
Supplement: 41698_2025_1181_MOESM1_ESM.pdf

Determinants of long-term response to patritumab deruxtecan in breast cancer patient-derived xenografts.

Òdena A et al.

Npj Precision Oncology, 2025

41272064 (PubMed )
Supplement: 41698_2025_1172_MOESM1_ESM.pdf

Translating genomic insights into therapy: an NGS-based mutation profiling study in breast cancer.

Bhavnagari HM et al.

Medical Oncology (northwood, London, England), 2025

Double nonallelic somatic activating oncogene variants in a series of mosaic vascular anomalies.

Kuentz P et al.

The British Journal of Dermatology, 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

Detection of PIK3CA Mutations in Anal Dysplasia.

Johnson HR et al.

The Journal of Surgical Research, 2025

Somatic mutation and selection at population scale.

Lawson ARJ et al.

Nature, 2025

41062696 (PubMed )
Supplement: 41586_2025_9584_MOESM6_ESM.xlsx › sitednds_oral

Early phase development of PI3kinase inhibitors for anticancer therapies.

Caputo C et al.

Expert Opinion on Investigational Drugs, 2025

Genomic profiling in hepatocellular carcinoma: a real-world retrospective analysis.

Salani F et al.

Esmo Open, 2025

41167083 (PubMed )
Supplement: mmc5.xlsx › Table_S12B

Analysis of the Occurrence of PIK3CA Gene Mutation in Children with Lymphatic Malformation-Single Center Study.

Kukulska J et al.

Children (basel, Switzerland), 2025

Comprehensive genomic profiling of Taiwanese triple-negative breast cancer samples with medium- and large-sized sequencing panels: A comparative study implicating treatment allocations.

Huang CC et al.

Biomedical Reports, 2025

Hormone Receptor Positive/HER2 Negative Breast Carcinoma: Association of PIK3CA Mutational Status with PD-L1 and Tumor Cell Microenvironment and Their Prognostic Significance.

Lopac D et al.

International Journal of Molecular Sciences, 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."