Varaico: Literature-Extracted Genetic Variants

Gene:PIK3CA
Variant:p.Q546H
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PIK3CA

NM_006218.4:p.Q546H

Associated Papers

Clinical and Genetic Landscape of Glioblastoma, IDH-Wildtype With FGFR Gene Family Alterations.

Kegoya Y et al.

Cancer Science, 2026

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

McGrath MJ et al.

Febs Letters, 2025

Concurrent genomic assessment of circulating tumour cells and ctDNA to guide therapy in metastatic breast cancer.

Allsopp RC et al.

Bmc Cancer, 2025

41351070 (PubMed )
Supplement: 12885_2025_15187_MOESM1_ESM.zip › Supp_Table_1.xlsx › Sheet1

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

Complementary modes of resistance to EGFR TKI in lung adenocarcinoma through MAPK activation and cellular plasticity.

Zatzman M et al.

Biorxiv : the Preprint Server for Biology, 2025

40654861 (PubMed )
Supplement: media-1.xlsx › Table_S1_-_Cohort_Metadata

ctDNA-based liquid biopsy reveals wider mutational profile with therapy resistance and metastasis susceptibility signatures in early-stage breast cancer patients.

Bharde A et al.

The Journal of Liquid Biopsy, 2025

PIK3CA Mutations and Co-Mutations in Operated Non-Small Cell Lung Carcinoma.

Cokpinar S et al.

Journal of Clinical Medicine, 2024

Recapitulating the adenoma-carcinoma sequence by selection of four spontaneous oncogenic mutations in mismatch-repair-deficient human colon organoids.

Mizutani T et al.

Nature Cancer, 2024

39487295 (PubMed )
Supplement: 43018_2024_841_MOESM8_ESM.xlsx › Fig.4e

Oncogenic composite mutations can be predicted by co-mutations and their chromosomal location.

Küçükosmanoglu A et al.

Molecular Oncology, 2024

38757376 (PubMed )
Supplement: MOL2-18-2407-s001.xlsx › 1B_Cases_composite_mutations

Integrating Genetic Alterations and Histopathological Features for Enhanced Risk Stratification in Non-Muscle-Invasive Bladder Cancer.

Lillesand M et al.

Diagnostics (basel, Switzerland), 2024

39410541 (PubMed )
Supplement: diagnostics-14-02137-s001.zip › Table_S2.xlsx › Table_S2

Beyond tobacco: genomic disparities in lung cancer between smokers and never-smokers.

Garrido J et al.

Bmc Cancer, 2024

39097719 (PubMed )
Supplement: 12885_2024_12737_MOESM2_ESM.xlsx › Table_S1

Comprehensive genomic profiling and therapeutic implications for Taiwanese patients with treatment-naïve breast cancer.

Chen SH et al.

Cancer Medicine, 2024

38895905 (PubMed )
Supplement: CAM4-13-e7384-s003.xlsx › Sheet1

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

Genomic characterization and immunotherapy for microsatellite instability-high in cholangiocarcinoma.

Yang X et al.

Bmc Medicine, 2024

38281914 (PubMed )
Supplement: 12916_2024_3257_MOESM1_ESM.xlsx › Table_S4

Detection of driver mutations and genomic signatures in endometrial cancers using artificial intelligence algorithms.

Stan A et al.

Plos One, 2024

38408048 (PubMed )
Supplement: pone.0299114.s011.xlsx › Supplementary_Table_S6

Identification of cancer driver mutations in liquid-based cytology samples for the screening of endometrial diseases.

Matsuura M et al.

Bjc Reports, 2023

39516270 (PubMed )
Supplement: 44276_2023_20_MOESM3_ESM.xlsx › Table_S3

ER+, HER2- advanced breast cancer treated with taselisib and fulvestrant: genomic landscape and associated clinical outcomes.

Chen JW et al.

Molecular Oncology, 2023

36892268 (PubMed )
Supplement: MOL2-17-2000-s008.pdf

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

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

Protein Tyrosine Phosphatase Non-Receptor 11 (PTPN11/Shp2) as a Driver Oncogene and a Novel Therapeutic Target in Non-Small Cell Lung Cancer (NSCLC).

Richards CE et al.

International Journal of Molecular Sciences, 2023

37445722 (PubMed )
Supplement: ijms-24-10545-s001.zip › PTPN11_paper_supplementary_tables_25042023.pdf

Multiple PIK3CA mutation clonality correlates with outcomes in taselisib + fulvestrant-treated ER+/HER2-, PIK3CA-mutated breast cancers.

Hutchinson KE et al.

Genome Medicine, 2023

37101291 (PubMed )
Supplement: 13073_2023_1181_MOESM1_ESM.pdf

Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.

Mussa A et al.

Journal of Medical Genetics, 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

Somatic mutation detection and KRAS amplification in testicular germ cell tumors.

Cabral ERM et al.

Frontiers in Oncology, 2023

37007070 (PubMed )
Supplement: DataSheet_1.zip › Table_S2.XLSX › Planilha1

Profiling PIK3CA variants in disorders of somatic mosaicism.

Mojarad BA et al.

Genetics in Medicine Open, 2023

39669231 (PubMed )
Supplement: mmc2.xlsx › Sheet1

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

Multiparametric Classification of Non-Muscle Invasive Papillary Urothelial Neoplasms: Combining Morphological, Phenotypical, and Molecular Features for Improved Risk Stratification.

Montes-Mojarro IA et al.

International Journal of Molecular Sciences, 2022

35897708 (PubMed )
Supplement: ijms-23-08133-s001.zip › ijms-1819103-supplementary.pdf

Evaluation of the Mutation Profile via Next-Generation Sequencing in a Turkish Population With Non-small Cell Lung Cancer.

Kahraman Çetin N et al.

Balkan Medical Journal, 2021

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

Comprehensive characterization of protein-protein interactions perturbed by disease mutations.

Cheng F et al.

Nature Genetics, 2021

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

Fu X et al.

Frontiers in Oncology, 2021

Characterization of the genomic landscape and actionable mutations in Chinese breast cancers by clinical sequencing.

Lang GT et al.

Nature Communications, 2020

33173047 (PubMed )
Supplement: 41467_2020_19342_MOESM7_ESM.xlsx › PGI_fudan_NC_clnical.oc

Genomic profiling of newly diagnosed glioblastoma patients and its potential for clinical utility - a prospective, translational study.

Nørøxe DS et al.

Molecular Oncology, 2020

32885540 (PubMed )
Supplement: MOL2-14-2727-s001.pdf

Assessment of a Highly Curated Somatic Oncology Database to Aid in the Interpretation of Clinically Important Variants in Next-Generation Sequencing Results.

Yaung SJ et al.

The Journal of Molecular Diagnostics : Jmd, 2020

Molecular profiling of mesonephric and mesonephric-like carcinomas of cervical, endometrial and ovarian origin.

Lin DI et al.

Gynecologic Oncology Reports, 2020

Genetic markers and phosphoprotein forms of beta-catenin pβ-Cat552 and pβ-Cat675 are prognostic biomarkers of cervical cancer.

Scholl SM et al.

Ebiomedicine, 2020

33096476 (PubMed )
Supplement: mmc2.xlsx › RAIDS_algo_filtering_wLOH_forma

Molecular Basis of Mismatch Repair Protein Deficiency in Tumors from Lynch Suspected Cases with Negative Germline Test Results.

Olkinuora A et al.

Cancers, 2020

32660107 (PubMed )
Supplement: cancers-12-01853-s001.zip › Supplementary_Files_olkinuora › Table_S2_olkinuora.xlsx › Table_S2

PIK3CA gene mutations in the helical domain correlate with high tumor mutation burden and poor prognosis in metastatic breast carcinomas with late-line therapies.

Tang Y et al.

Aging, 2020

Targeted Gene Next-Generation Sequencing Panel in Patients with Advanced Lung Adenocarcinoma: Paving the Way for Clinical Implementation.

Fernandes MGO et al.

Cancers, 2019

31443496 (PubMed )
Supplement: cancers-11-01229-s001.pdf

Analysis of error profiles in deep next-generation sequencing data.

Ma X et al.

Genome Biology, 2019

30867008 (PubMed )
Supplement: 13059_2019_1659_MOESM1_ESM.xlsx › S3_b

Targeted next-generation sequencing of endometrial cancer and matched circulating tumor DNA: identification of plasma-based, tumor-associated mutations in early stage patients.

Bolivar AM et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2019

Comparison of TCGA and GENIE genomic datasets for the detection of clinically actionable alterations in breast cancer.

Kaur P et al.

Scientific Reports, 2019

30728399 (PubMed )
Supplement: 41598_2018_37574_MOESM1_ESM.pdf

Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Koyama T et al.

Bmc Cancer, 2019

30709382 (PubMed )
Supplement: 12885_2019_5313_MOESM2_ESM.xlsx › supplementary_2_filtered
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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."