Varaico: Literature-Extracted Genetic Variants

Gene:PIK3CA
Variant:p.Q546E
Back to variants list

PIK3CA

NM_006218.4:p.Q546E

Associated Papers

Integrating genotype-phenotype correlations into the diagnostic workflow of odontogenic tumors and cysts: insights from a 69 lesion cohort.

Gültekin SE et al.

Clinical Oral Investigations, 2025

Analysis of Oncogene Mutations in Odontogenic Myxoma.

Pankam J et al.

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

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

Bhavnagari HM et al.

Medical Oncology (northwood, London, England), 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

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

Clinical and analytical validation of MI Cancer Seek®, a companion diagnostic whole exome and whole transcriptome sequencing-based comprehensive molecular profiling assay.

Domenyuk V et al.

Oncotarget, 2025

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

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

A targeted next-generation sequencing panel for identification of clinically relevant mutation profiles in solid tumours.

Das K et al.

Scientific Reports, 2025

40593313 (PubMed )
Supplement: 41598_2025_8039_MOESM1_ESM.xlsx › Supplementary_Table_S6

Retrospective comparison between breast cancer tissue- and blood-based next-generation sequencing results in detection of PIK3CA, AKT1, and PTEN alterations.

Chaki M et al.

Breast Cancer Research : Bcr, 2025

40597213 (PubMed )
Supplement: 13058_2025_2055_MOESM1_ESM.pdf

Implementation and outcome of personalized treatment strategies in advanced genitourinary cancers.

Klostermann A et al.

Esmo Open, 2025

Search for Mutations Connected With Non-Response to Anti-EGFR Therapy in mCRC in the Morphologically Defined Regions of Primary Tumours.

Čarnogurská M et al.

Cancer Medicine, 2025

Detection of ESR1 Mutations in Tissue and Liquid Biopsy with Novel Next-Generation Sequencing and Digital Droplet PCR Assays: Insights from Multi-Center Real Life Data of Almost 6000 Patients.

Borkar S et al.

Cancers, 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

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

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

Tada H et al.

Breast Cancer (tokyo, Japan), 2025

High frequency of the PIK3CA H1047L mutation in Indonesian breast cancer across molecular subtypes.

Prajoko YW et al.

Plos One, 2025

Molecular identification of KRAS, BRAF, and PIK3CA mutations in colorectal cancer patients from the Kurdistan region of Iraq.

Hamasharif HG

Molecular Biology Research Communications, 2025

Breast cancer brain metastases genomic profiling identifies alterations targetable by immune-checkpoint and PARP inhibitors.

Giannoudis A et al.

Npj Precision Oncology, 2024

The theory of massively repeated evolution and full identifications of cancer-driving nucleotides (CDNs).

Zhang L et al.

Elife, 2024

39688960 (PubMed )
Supplement: elife-99340-supp1.xlsx › CDN.Missense.gnomad

Genomic landscape of malignant phyllodes tumors reveals multiple targetable opportunities.

Rosenberger LH et al.

The Oncologist, 2024

Practical treatment strategies and novel therapies in the phosphoinositide 3-kinase (PI3K)/protein kinase B (AKT)/mammalian target of rapamycin (mTOR) pathway in hormone receptor-positive/human epidermal growth factor receptor 2 (HER2)-negative (HR+/HER2-) advanced breast cancer.

Fanucci K et al.

Esmo Open, 2024

Targeted Sequencing of HER2-Positive Breast Cancer Mutations Revealed a Potential Association between PIK3CA and Trastuzumab Resistance.

Mekhamer AM et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2024

39611930 (PubMed )
Supplement: APJCP-25-4051-s001.pdf

Mutation patterns in colorectal cancer and their relationship with prognosis.

Su Z et al.

Heliyon, 2024

39263143 (PubMed )
Supplement: mmc1.xlsx › Tabelle1

Analysis of PIK3CA mutations in the primary and recurrent tumors of hormone receptor positive/human epidermal growth factor receptor 2 negative breast cancer.

Wang Y et al.

Japanese Journal of Clinical Oncology, 2024

PIK3CA Hotspot Mutations in Saliva as a Diagnostic Marker in Oral Squamous Cell Carcinoma Patients.

Krüger K et al.

Anticancer Research, 2024

Liquid Biopsy Profiling with Multiple Tests in Patients with Metastatic Breast Cancer.

Higa N et al.

Journal of Molecular Pathology, 2024

41614092 (PubMed )
Supplement: NIHMS2059476-supplement-Supplementary_Material.pdf

PIK3CA mutations in endocrine-resistant breast cancer.

Schagerholm C et al.

Scientific Reports, 2024

Pan-Cancer Comparative and Integrative Analyses of Driver Alterations Using Japanese and International Genomic Databases.

Horie S et al.

Cancer Discovery, 2024

38276885 (PubMed )
Supplement: cd-23-0902_supplementary_table_s6_suppst6.xlsx › S6

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

AutoEpiCollect, a Novel Machine Learning-Based GUI Software for Vaccine Design: Application to Pan-Cancer Vaccine Design Targeting PIK3CA Neoantigens.

Samudrala M et al.

Bioengineering (basel, Switzerland), 2024

Highly Sensitive Detection of PIK3CA Mutations by Looping-Out Probes-Based Melting Curve Analysis.

Xu B et al.

Biochemical Genetics, 2024

Accurate Detection of Multiple Tumor Mutations in Formalin-Fixed Paraffin-Embedded Tissues by Coupling Sequence Artifacts Elimination and Mutation Enrichment With MeltArray.

Lan Y et al.

Laboratory Investigation; a Journal of Technical Methods and Pathology, 2024

Exploring Co-occurring POLE Exonuclease and Non-exonuclease Domain Mutations and Their Impact on Tumor Mutagenicity.

Shah SM et al.

Cancer Research Communications, 2024

38282550 (PubMed )
Supplement: crc-23-0312-s02.xlsx › Fig3B_EC_data

From haystack to high precision: advanced sequencing methods to unraveling circulating tumor DNA mutations.

da Silva TF et al.

Frontiers in Molecular Biosciences, 2024

Prevalence and prognosis of PIK3CA mutations in Bulgarian patients with metastatic breast cancer receiving endocrine therapy in first-line setting.

Gencheva R et al.

Cancer Reports (hoboken, N.j.), 2023

Digging into the NGS Information from a Large-Scale South European Population with Metastatic/Unresectable Pancreatic Ductal Adenocarcinoma: A Real-World Genomic Depiction.

Ziogas DC et al.

Cancers, 2023

38201431 (PubMed )
Supplement: cancers-16-00002-s001.zip › Supplementary_Tables.pdf

New molecular prognostic factors of adult diffuse lower-grade gliomas in post-2016 molecular era: a retrospective analysis from single center.

Wang Q et al.

British Journal of Neurosurgery, 2023

Detection of low-frequency mutations in clinical samples by increasing mutation abundance via the excision of wild-type sequences.

Chen W et al.

Nature Biomedical Engineering, 2023

The quest for the optimal biomarker: is extending the spectrum of targeted PIK3CA mutations in breast cancer carcinoma worthwhile?

Quesada S et al.

Annals of Translational Medicine, 2023

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

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

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

Driver and targetable alterations in Chinese patients with small bowel carcinoma.

Li J et al.

Journal of Cancer Research and Clinical Oncology, 2023

Frequency and mutational spectrum of PIK3CA gene mutations in breast cancer patients: Largest and first report from Lebanon.

Hamadeh LN et al.

Gene, 2023

Genomic analysis of plasma circulating tumor DNA in patients with heavily pretreated HER2 + metastatic breast cancer.

Lee K et al.

Scientific Reports, 2023

37336919 (PubMed )
Supplement: 41598_2023_35925_MOESM1_ESM.xlsx › Table_S4__patho_variants_
1–50 of 193 papers
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."