Varaico: Literature-Extracted Genetic Variants

Gene:PIK3CA
Variant:p.E110del1
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PIK3CA

NM_006218.4:p.E110del1

Associated Papers

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

Tagore S et al.

Nature Genetics, 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_9

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

McGrath MJ et al.

Febs Letters, 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

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

Acikgoz NB et al.

Molecular Syndromology, 2025

Towards Personalized Precision Oncology: A Feasibility Study of NGS-Based Variant Analysis of FFPE CRC Samples in a Chilean Public Health System Laboratory.

Durán-Jara E et al.

Current Issues in Molecular Biology, 2025

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

Prostate Ductal Adenocarcinoma Revisited: Clinicopathological and Genomic Characterization Identifies Heterogenous Group of Diseases with Implications for Patient Management.

Cai Q et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2025

Clinical Application of Next-Generation Sequencing for Molecular Classification in the Management of Endometrial Cancer: An Observational Cohort Study.

Paratore S et al.

Cancers, 2025

Distinct pathways for genetic and epigenetic predisposition in familial and bilateral Wilms tumor.

Wegert J et al.

Genome Medicine, 2025

40340749 (PubMed )
Supplement: 13073_2025_1482_MOESM1_ESM.xlsx › Table_S2

Genotyping as Part of Routine Clinical Care-The Outcomes for a Large Paediatric Vascular Anomaly Cohort.

O'Sullivan S et al.

American Journal of Medical Genetics. Part A, 2025

Stratified Medicine Pediatrics: Cell-Free DNA and Serial Tumor Sequencing Identifies Subtype-Specific Cancer Evolution and Epigenetic States.

George SL et al.

Cancer Discovery, 2025

39693475 (PubMed )
Supplement: cd-24-0916_supplementary_table_5_suppst5.xlsx › Sheet1

H3 K27M mutation in rosette-forming glioneuronal tumors: a potential diagnostic pitfall.

Marastoni E et al.

Virchows Archiv : an International Journal of Pathology, 2025

Non-Hotspot PIK3CA Variants Have Higher Variant Allele Frequency and are More Common in Syndromic Vascular Malformations.

Andreoti TA et al.

American Journal of Medical Genetics. Part A, 2025

Decoding the molecular landscape: HER2 and PD-L1 in advanced gastric cancer.

Yao J et al.

Frontiers in Immunology, 2025

40519936 (PubMed )
Supplement: Table1.xlsx › SNV

Genomic landscape of malignant phyllodes tumors reveals multiple targetable opportunities.

Rosenberger LH et al.

The Oncologist, 2024

Diagnostic Challenges due to a Germline Missense MSH2 Variant in a Patient With Immunotherapy-Responsive Locally Advanced Rectal Adenocarcinoma.

Evaristo G et al.

Cancer Reports (hoboken, N.j.), 2024

Correspondence on "The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2" by Lai et al.

Horta E et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024

Hallmarks of a genomically distinct subclass of head and neck cancer.

Muijlwijk T et al.

Nature Communications, 2024

39428388 (PubMed )
Supplement: 41467_2024_53390_MOESM4_ESM.xlsx › 3._List_of_all_somatic_variants

Delineation of the phenotypes and genotypes of PIK3CA-related overgrowth spectrum in East asians.

Chen H et al.

Molecular Genetics and Genomics : Mgg, 2024

Clinical and molecular predictors of very late recurrence in oestrogen receptor-positive breast cancer patients.

Richman J et al.

Breast Cancer Research and Treatment, 2024

38709373 (PubMed )
Supplement: 10549_2024_7311_MOESM2_ESM.xlsx › Suppl_Table_5

Characterizing multi-PIK3CA mutations across cancer types: Toward precision oncology.

Nakamura K et al.

Cancer Medicine, 2024

39054873 (PubMed )
Supplement: CAM4-13-e70052-s002.xlsx › Table_S2

PIK3CA mutations in endocrine-resistant breast cancer.

Schagerholm C et al.

Scientific Reports, 2024

Identification of potentially actionable genetic variants in epithelial ovarian cancer: a retrospective cohort study.

Fieuws C et al.

Npj Precision Oncology, 2024

38519644 (PubMed )
Supplement: 41698_2024_565_MOESM1_ESM.pdf

Identification of Potential Genomic Alterations Using Pan-Cancer Cell-Free DNA Next-Generation Sequencing in Patients With Gastric Cancer.

Kim B et al.

Annals of Laboratory Medicine, 2024

37903652 (PubMed )
Supplement: alm-44-2-164-supple1.xlsx › Assay_B

Clinical and Genetic Characteristics of Early and Advanced Gastric Cancer.

Ha GW et al.

Current Issues in Molecular Biology, 2024

Molecular profiling of metastatic breast cancer and target-based therapeutic matching in an Asian tertiary phase I oncology unit.

Walsh RJ et al.

Frontiers in Oncology, 2024

38812774 (PubMed )
Supplement: DataSheet_2.xlsx › Sheet1

Improving genetic diagnostic yield in a large cohort of children with rare vascular anomalies or PIK3CA-related overgrowth spectrum.

Green TE et al.

Genetics in Medicine Open, 2024

Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.

Faivre L et al.

Clinical Genetics, 2023

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

Targeted next-generation sequencing for detection of PIK3CA mutations in archival tissues from patients with Klippel-Trenaunay syndrome in an Asian population : List the full names and institutional addresses for all authors.

Sasaki Y et al.

Orphanet Journal of Rare Diseases, 2023

Somatic mutation spectrum of a Chinese cohort of pediatrics with vascular malformations.

Zhang B et al.

Orphanet Journal of Rare Diseases, 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

Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.

Sakthikumar S et al.

Veterinary and Comparative Oncology, 2023

37248814 (PubMed )
Supplement: supplement_1.xlsx › Suppl._Table_6

Cribriform Morular Thyroid Carcinoma - Ultimobranchial Pouch-Related? Deep Molecular Insights of a Unique Case.

Dettmer MS et al.

Endocrine Pathology, 2023

Modeling the novel SERD elacestrant in cultured fulvestrant-refractory HR-positive breast circulating tumor cells.

Dubash TD et al.

Breast Cancer Research and Treatment, 2023

Delineation of the phenotypes and genotypes of facial infiltrating lipomatosis associated with PIK3CA mutations.

Chen H et al.

Orphanet Journal of Rare Diseases, 2023

Systematic Pan-cancer Functional Inference and Validation of Hyper, Hypo and Neomorphic Mutations.

Tagore S et al.

Biorxiv : the Preprint Server for Biology, 2023

A Gene Panel Associated With Abemaciclib Utility in ESR1-Mutated Breast Cancer After Prior Cyclin-Dependent Kinase 4/6-Inhibitor Progression.

Brett JO et al.

Jco Precision Oncology, 2023

Genetic landscape and personalized tracking of tumor mutations in Vietnamese women with breast cancer.

Nguyen Hoang VA et al.

Molecular Oncology, 2023

36495126 (PubMed )
Supplement: MOL2-17-598-s002.xlsx › SupTable_S5_Variants_in_FFPE
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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."