Varaico: Literature-Extracted Genetic Variants

Gene:PIK3CA
Variant:p.E545D
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PIK3CA

NM_006218.4:p.E545D

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

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

Clinical and Genomic Factors Associated with Elacestrant Outcomes in ESR1-Mutant Metastatic Breast Cancer.

Lloyd MR et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 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

High depth targeted next-generation sequencing in vascular malformations.

Pakhathirathien P et al.

Human Molecular Genetics, 2025

Diagnostic utility of ESR1 mutation detection in liquid biopsy of metastatic breast cancer patients.

Sandbothe M et al.

Virchows Archiv : an International Journal of Pathology, 2025

39392509 (PubMed )
Supplement: 428_2024_3942_MOESM3_ESM.xlsx › FFPE_metastases

High-grade endometrioid carcinomas with pilomatrix-like features lacking CTNNB1 Mutations: Clinicopathologic characteristics and novel molecular events.

Qin L et al.

Human Pathology, 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

PTEN hamartoma of soft tissue (PHOST) and fibroadipose vascular anomaly (FAVA): a comparative clinicopathologic and molecular analysis.

Xue S et al.

Virchows Archiv : an International Journal of Pathology, 2025

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

Abujamous L et al.

The Oncologist, 2025

Circulating tumor DNA predicts clinical benefits of immune checkpoint blockade in HER2-negative patients with advanced gastric cancer.

He M et al.

Gastric Cancer : Official Journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association, 2025

40372586 (PubMed )
Supplement: 10120_2025_1621_MOESM2_ESM.xlsx › Table_S4

Profiling of HER2, KRAS, and PIK3CA mutations in uterine cervical neuroendocrine carcinoma and implications for oncogenic driver targeting therapy.

Chao WR et al.

Cancer Genetics, 2025

Gene actionability according to the ESMO Scale for Clinical Actionability of molecular Targets (ESCAT) in No Specific Molecular Profile (NSMP) endometrial cancer.

Mastrantoni L et al.

Esmo Open, 2025

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

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

Clinical Sequence Revealed the Prevalence and Biological Significance of Somatic Pathogenic Variants in Thoracic Cancer: Implications for Germline Status.

Fukushima T et al.

Clinical Lung Cancer, 2025

Clinicogenomic landscape and function of PIK3CA , AKT1 , and PTEN mutations in breast cancer.

Tao JJ et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Advancing Precision Oncology: Whole-Exome Sequencing in Endometrial Cancer Liquid-Based Cytology.

Takamatsu R et al.

Archives of Pathology & Laboratory Medicine, 2025

Comprehensive Genomic Profiling of Indian Patients With Lung Cancer.

Sharma S et al.

Jco Global Oncology, 2025

40324118 (PubMed )
Supplement: DS1_GO-24-00587.pdf

PIK3CA gene mutation status associated with poor prognosis of breast cancer: a retrospective cohort study.

Yan M et al.

Bmc Cancer, 2025

Somatic mutational profiling and clinical impact of driver genes in Latin-Iberian medulloblastomas: Towards precision medicine.

Barateiro LGRP et al.

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2025

Importance of EQA/PT for the detection of genetic variants in comprehensive cancer genome testing.

Matsushita K et al.

Scientific Reports, 2025

Selective utilization of circulating tumor DNA testing enables disease monitoring in endometrial and ovarian carcinomas.

Jamieson A et al.

Journal of Gynecologic Oncology, 2025

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

Preclinical NCI-MPACT: prospective modeling of the mutation-based NCI-MPACT clinical trial therapeutic strategy in patient-derived xenograft models.

Evrard YA et al.

Frontiers in Oncology, 2025

40458731 (PubMed )
Supplement: Table1.xlsx › Supplementry_Table_1_aMOI

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

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

Large-scale analysis of whole genome sequencing data from formalin-fixed paraffin-embedded cancer specimens demonstrates preservation of clinical utility.

Basyuni S et al.

Nature Communications, 2024

39231944 (PubMed )
Supplement: 41467_2024_51577_MOESM13_ESM.xlsx › Oxford_cohort

Functional characterization of PI3K C2 domain mutations detected in breast cancer circulating tumor cells and metastatic cells.

Smit DJ et al.

Cellular Signalling, 2024

Longitudinal dynamics of circulating tumor DNA for treatment monitoring in patients with breast cancer recurrence.

Yoo TR et al.

Scientific Reports, 2024

Copy number signatures and CCNE1 amplification reveal the involvement of replication stress in high-grade endometrial tumors oncogenesis.

Marlin R et al.

Cellular Oncology (dordrecht, Netherlands), 2024

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

Chen H et al.

Molecular Genetics and Genomics : Mgg, 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

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

Horie S et al.

Cancer Discovery, 2024

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

PIK3CA mutation-driven immune signature as a prognostic marker for evaluating the tumor immune microenvironment and therapeutic response in breast cancer.

Ren X et al.

Journal of Cancer Research and Clinical Oncology, 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
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