Varaico: Literature-Extracted Genetic Variants

Gene:PIK3CA
Variant:p.N1068fs
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PIK3CA

NM_006218.4:p.N1068fs

Associated Papers

Development and Performance Validation of a Comprehensive Liquid Biopsy Genotyping Panel for Pan-cancer Analysis.

Lim S et al.

Annals of Laboratory Medicine, 2025

40888113 (PubMed )
Supplement: alm-46-2-210-supple.pdf

Comprehensive mapping elucidates high risk genotypes in primary metastatic breast cancer.

Berg T et al.

Neoplasia (new York, N.y.), 2025

40121945 (PubMed )
Supplement: mmc5.xlsx › Ark1

Molecular Basis of Oncogenic PI3K Proteins.

Sheng Z et al.

Cancers, 2024

Analytical and Clinical Validation of a Highly Sensitive NGS-Based ctDNA Assay with Real-World Concordance in Non-Small Cell Lung Cancer.

Yi H et al.

Cancer Research and Treatment, 2024

Analytical Performance Evaluation of a 523-Gene Circulating Tumor DNA Assay for Next-Generation Sequencing-Based Comprehensive Tumor Profiling in Liquid Biopsy Samples.

Harter J et al.

The Journal of Molecular Diagnostics : Jmd, 2024

CHB patients with rtA181T-mutated HBV infection are associated with higher risk hepatocellular carcinoma due to increases in mutation rates of tumour suppressor genes.

Ning Q et al.

Journal of Viral Hepatitis, 2023

37735836 (PubMed )
Supplement: supplement_1.doc

Validation of a Molecular Diagnostic Test for Circulating Tumor DNA by Next-Gen Sequencing.

Fernandez SV et al.

International Journal of Molecular Sciences, 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

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_

Evaluation of the Analytical Performance of Oncomine Lung cfDNA Assay for Detection of Plasma EGFR Mutations.

Cho YG et al.

Genes, 2023

Oncogenic mutations of PIK3CA lead to increased membrane recruitment driven by reorientation of the ABD, p85 and C-terminus.

Jenkins ML et al.

Nature Communications, 2023

High prevalence of somatic PIK3CA and TP53 pathogenic variants in the normal mammary gland tissue of sporadic breast cancer patients revealed by duplex sequencing.

Kostecka A et al.

Npj Breast Cancer, 2022

Highly sensitive liquid biopsy Duplex sequencing complements tissue biopsy to enhance detection of clinically relevant genetic variants.

Hallermayr A et al.

Frontiers in Oncology, 2022

36636551 (PubMed )
Supplement: Table_1.xlsx › Supplementary_Table_10

Therapeutic implications of activating noncanonical PIK3CA mutations in head and neck squamous cell carcinoma.

Jin N et al.

The Journal of Clinical Investigation, 2021

Validation of a liquid biopsy assay with molecular and clinical profiling of circulating tumor DNA.

Finkle JD et al.

Npj Precision Oncology, 2021

34215841 (PubMed )
Supplement: 41698_2021_202_MOESM1_ESM.pdf

Ultrasensitive detection of tumor-specific mutations in saliva of patients with oral cavity squamous cell carcinoma.

Shanmugam A et al.

Cancer, 2021

The Spectrum, Tendency and Predictive Value of PIK3CA Mutation in Chinese Colorectal Cancer Patients.

Fu X et al.

Frontiers in Oncology, 2021

PIK3CA C-terminal frameshift mutations are novel oncogenic events that sensitize tumors to PI3K-α inhibition.

Spangle JM et al.

Proceedings of the National Academy of Sciences of the United States of America, 2020

Technical Evaluation of Commercial Mutation Analysis Platforms and Reference Materials for Liquid Biopsy Profiling.

Weber S et al.

Cancers, 2020

32560092 (PubMed )
Supplement: cancers-12-01588-s001.zip › Table_S3.xlsx › Table_S3

Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma.

Winter H et al.

Cancers, 2019

31795195 (PubMed )
Supplement: cancers-11-01895-s001.zip › ICC_ctDNA_Cancers_Supplementary_Table_5._50_cancer_gene_panel_information.xlsx › cms_106003

Development and validation of a targeted gene sequencing panel for application to disparate cancers.

McCabe MJ et al.

Scientific Reports, 2019

Multilaboratory Assessment of a New Reference Material for Quality Assurance of Cell-Free Tumor DNA Measurements.

He HJ et al.

The Journal of Molecular Diagnostics : Jmd, 2019

Pharmacogenetics of hepatocellular carcinoma and cholangiocarcinoma.

Alonso-Peña M et al.

Cancer Drug Resistance (alhambra, Calif.), 2019

Fibroblast growth factor receptor 3 (FGFR3) aberrations in muscle-invasive urothelial carcinoma.

Kim YS et al.

Bmc Urology, 2018

30064409 (PubMed )
Supplement: 12894_2018_380_MOESM1_ESM.xlsx › Supplementary_Table_1

CDKN2A loss and PIK3CA mutation in myoepithelial-like metaplastic breast cancer.

Bartels S et al.

The Journal of Pathology, 2018

Molecular Characterization of Urothelial Carcinoma of the Bladder and Upper Urinary Tract.

Lee JY et al.

Translational Oncology, 2018

29161613 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1

Prognostic factors in the myoepithelial-like spindle cell type of metaplastic breast cancer.

Leo F et al.

Virchows Archiv : an International Journal of Pathology, 2016

Mutations in PI3K/AKT pathway genes and amplifications of PIK3CA are associated with patterns of recurrence in gastric cancers.

Fang WL et al.

Oncotarget, 2016

26701847 (PubMed )
Supplement: oncotarget-07-6201-s001.pdf

Mutational profiling of brain metastasis from breast cancer: matched pair analysis of targeted sequencing between brain metastasis and primary breast cancer.

Lee JY et al.

Oncotarget, 2015

26527317 (PubMed )
Supplement: oncotarget-06-43731-s002.xlsx › Table_S1

Molecular characterization of patients with pathologic complete response or early failure after neoadjuvant chemotherapy for locally advanced breast cancer using next generation sequencing and nCounter assay.

Park K et al.

Oncotarget, 2015

26009992 (PubMed )
Supplement: oncotarget-06-24499-s002.xlsx › Supplementary_Table_1

Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

MacConaill LE et al.

The Journal of Molecular Diagnostics : Jmd, 2014

AKT inhibitors promote cell death in cervical cancer through disruption of mTOR signaling and glucose uptake.

Rashmi R et al.

Plos One, 2014

High-throughput sequencing and copy number variation detection using formalin fixed embedded tissue in metastatic gastric cancer.

Kim S et al.

Plos One, 2014

25372287 (PubMed )
Supplement: pone.0111693.s003.xls › ion_ampliseq_cancer_panel_mutat

Altered composition of fatty acids exacerbates hepatotumorigenesis during activation of the phosphatidylinositol 3-kinase pathway.

Kudo Y et al.

Journal of Hepatology, 2011

Mutational profiling reveals PIK3CA mutations in gallbladder carcinoma.

Deshpande V et al.

Bmc Cancer, 2011

21303542 (PubMed )
Supplement: 1471-2407-11-60-S1.XLS › Table_1_OM3_core_sites

Profiling critical cancer gene mutations in clinical tumor samples.

MacConaill LE et al.

Plos One, 2009

19924296 (PubMed )
Supplement: pone.0007887.s002.xls › Table_S1_
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