Varaico: Literature-Extracted Genetic Variants

Gene:PIK3CA
Variant:p.Q546L
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PIK3CA

NM_006218.4:p.Q546L

Associated Papers

A Three-subtype Molecular model of Cervical Cancer: Multiple PI3K Pathway inhibitors suppress growth and cooperate with HPV-directed immunotherapy.

Lou H et al.

Medrxiv : the Preprint Server for Health Sciences, 2026

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

Folliculin (FLCN) in Thyroid Tumors: Incidence, Significance, and Role as a Driver Gene and Secondary Alteration.

Hassan FA et al.

Current Oncology (toronto, Ont.), 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

Genomic landscape of malignant phyllodes tumors reveals multiple targetable opportunities.

Rosenberger LH et al.

The Oncologist, 2024

Cancer risk assessment of premalignant breast tissues from patients with BRCA mutations by genome profiling.

Hirose T et al.

Npj Breast Cancer, 2024

39366967 (PubMed )
Supplement: 41523_2024_693_MOESM3_ESM.xlsx › Supplementary_Data_3

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

Understanding PI3K/Akt/mTOR signaling in squamous cell carcinoma: mutated PIK3CA as an example.

Zheng S et al.

Molecular Biomedicine, 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

Next-Generation Sequencing in Breast Cancer Patients: Real-World Data for Precision Medicine.

Lee H et al.

Cancer Research and Treatment, 2024

Baseline Mutations and ctDNA Dynamics as Prognostic and Predictive Factors in ER-Positive/HER2-Negative Metastatic Breast Cancer Patients.

Pascual J et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023

37490393 (PubMed )
Supplement: ccr-23-0956_supplementary_table_s2_suppts2.xlsx › PEARL_baseline_mutations

Targeted molecular profiling of solid tumours-Indian tertiary cancer centre experience.

Gurav M et al.

Journal of Cancer Research and Clinical Oncology, 2023

Prevalence of Molecular Alterations in a Swiss Cohort of 512 Colorectal Carcinoma Patients by Targeted Next-Generation Sequencing Analysis in Routine Diagnostics.

Haefliger S et al.

Pathobiology : Journal of Immunopathology, Molecular and Cellular Biology, 2023

36202073 (PubMed )
Supplement: pat-0090-0166-s01.pdf

Molecular profiling of solid tumors by next-generation sequencing: an experience from a clinical laboratory.

Bhai P et al.

Frontiers in Oncology, 2023

37483495 (PubMed )
Supplement: Table_6.xlsx › Comprehensive_panel

Modified Taq DNA Polymerase for Allele-Specific Ultra-Sensitive Detection of Genetic Variants.

Lim Y et al.

The Journal of Molecular Diagnostics : Jmd, 2022

Development of a multiplex allele-specific qPCR approach for testing PIK3CA mutations in patients with colorectal cancer.

Oscorbin IP et al.

Heliyon, 2022

Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

White JA et al.

Cancer Research Communications, 2022

36922933 (PubMed )
Supplement: crc-22-0136-s01.xlsx › ST3_Known_Somatic_Variants

Circulating tumor DNA to guide rechallenge with panitumumab in metastatic colorectal cancer: the phase 2 CHRONOS trial.

Sartore-Bianchi A et al.

Nature Medicine, 2022

35915157 (PubMed )
Supplement: 41591_2022_1886_MOESM1_ESM.pdf

PIK3CA Gene Mutations in HNSCC: Systematic Review and Correlations with HPV Status and Patient Survival.

Cochicho D et al.

Cancers, 2022

35267596 (PubMed )
Supplement: cancers-14-01286-s001.zip › Table_S3-HNSCC_PIK3CA_Mutational_profile.pdf

Systematic assessment and optimizing algorithm of tumor mutational burden calculation and their implications in clinical decision-making.

Sun D et al.

Frontiers in Oncology, 2022

36425562 (PubMed )
Supplement: Table_3.xlsx › Sheet1

TP53 mutations are associated with primary endocrine resistance in luminal early breast cancer.

Grote I et al.

Cancer Medicine, 2021

34779146 (PubMed )
Supplement: CAM4-10-8581-s002.xlsx › Supplementary_Table_S2

Development of multiplex digital PCR assays for the detection of PIK3CA mutations in the plasma of metastatic breast cancer patients.

Corné J et al.

Scientific Reports, 2021

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

Fu X et al.

Frontiers in Oncology, 2021

Predictive Role of TP53, PIK3CA and MLL2 in ER+ HER2+ Breast Bancer: Biomarker Analysis of Neo-ALL-IN [NCT 01275859].

Park JH et al.

Anticancer Research, 2020

Genomic characterization of Chinese ovarian clear cell carcinoma identifies driver genes by whole exome sequencing.

Yang Q et al.

Neoplasia (new York, N.y.), 2020

Characterization of Driver Mutations in Anaplastic Thyroid Carcinoma Identifies RAS and PIK3CA Mutations as Negative Survival Predictors.

Lai WA et al.

Cancers, 2020

32698386 (PubMed )
Supplement: cancers-12-01973-s001.pdf

Phase II evaluation of copanlisib, a selective inhibitor of Pi3kca, in patients with persistent or recurrent endometrial carcinoma harboring PIK3CA hotspot mutations: An NRG Oncology study (NRG-GY008).

Santin AD et al.

Gynecologic Oncology Reports, 2020

High Frequency of KRAS Codon 146 and FBXW7 Mutations in Thai Patients with Stage II-III Colon Cancer.

Korphaisarn K et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2019

Comparison of Three Real-Time PCR Assays for the Detection of PIK3CA Somatic Mutations in Formalin-Fixed Paraffin Embedded Tissues of Patients with Breast Carcinomas.

Lambert A et al.

Pathology Oncology Research : Por, 2019

Targeted Next-Generation Sequencing Validates the Use of Diagnostic Biopsies as a Suitable Alternative to Resection Material for Mutation Screening in Colorectal Cancer.

Ham-Karim HA et al.

Molecular Diagnosis & Therapy, 2019

Exon 9 Mutation of PIK3CA Associated With Poor Survival in Patients With Epstein-Barr Virus-associated Gastric Cancer.

Seo AN et al.

Anticancer Research, 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

Characterization of PIK3CA and PIK3R1 somatic mutations in Chinese breast cancer patients.

Chen L et al.

Nature Communications, 2018

29636477 (PubMed )
Supplement: 41467_2018_3867_MOESM1_ESM.pdf

Clinical significance of plasma cell-free DNA mutations in PIK3CA, AKT1, and ESR1 gene according to treatment lines in ER-positive breast cancer.

Takeshita T et al.

Molecular Cancer, 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

ESR1 and PIK3CA mutational status in serum and plasma from metastatic breast cancer patients: A comparative study.

Takeshita T et al.

Cancer Biomarkers : Section a of Disease Markers, 2018

Clinical mutational profiling of 1006 lung cancers by next generation sequencing.

Illei PB et al.

Oncotarget, 2017

29228562 (PubMed )
Supplement: oncotarget-08-96684-s001.pdf

Analysis of ESR1 and PIK3CA mutations in plasma cell-free DNA from ER-positive breast cancer patients.

Takeshita T et al.

Oncotarget, 2017

Tumor burden monitoring using cell-free tumor DNA could be limited by tumor heterogeneity in advanced breast cancer and should be evaluated together with radiographic imaging.

García-Saenz JA et al.

Bmc Cancer, 2017

Relationship between Tumor Biomarkers and Efficacy in EMILIA, a Phase III Study of Trastuzumab Emtansine in HER2-Positive Metastatic Breast Cancer.

Baselga J et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2016

Integrated digital error suppression for improved detection of circulating tumor DNA.

Newman AM et al.

Nature Biotechnology, 2016

27018799 (PubMed )
Supplement: NIHMS764326-supplement-6.xlsx › SuppTable4_hotspot_variants

Multi-platform molecular profiling of a large cohort of glioblastomas reveals potential therapeutic strategies.

Xiu J et al.

Oncotarget, 2016

26933808 (PubMed )
Supplement: oncotarget-07-21556-s001.pdf

Sensitivity of KRAS-Mutant Colorectal Cancers to Combination Therapy That Cotargets MEK and CDK4/6.

Ziemke EK et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2016

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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."