Varaico: Literature-Extracted Genetic Variants

Gene:PIK3CA
Variant:p.Q546R
Back to variants list

PIK3CA

NM_006218.4:p.Q546R

Associated Papers

Pan-cancer inference and validation of hypermorphic, hypomorphic and neomorphic mutations.

Tagore S et al.

Nature Genetics, 2026

Clinicopathologic and Molecular Features of Tubo-Ovarian Carcinosarcomas with an Emphasis on p53 Wild-Type, KRAS-Mutated Tumors.

Hammer PM et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2026

SATB2 Induces Malignant Transformation and Cancer Stem Cell Characteristics, and Inhibition of Its Expression Reverses Drug Resistance in Mesothelioma.

Brown C et al.

Cells, 2026

Identifying and capitalizing on unique molecular alterations of mucinous ovarian carcinoma for the development of novel therapeutic strategies.

Jang M et al.

Gynecologic Oncology Reports, 2026

Phylogenetic analysis of paired breast carcinomas identifies genetic events associated with clonal recurrence and invasive progression.

Kader T et al.

The Journal of Pathology, 2026

41165701 (PubMed )
Supplement: PATH-268-1-s001.zip › path6461-sup-0001-SuppMatMethFiguresS1-S18TablesS1-S9 › path6461-sup-0003-TableS4.xlsx › Variants_recurrence_cases

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

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

Understanding the conformational dynamics of PI3Kα due to helical domain mutations: insights from Markov state model analysis.

Jani V et al.

Molecular Diversity, 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

Genomic profiling in hepatocellular carcinoma: a real-world retrospective analysis.

Salani F et al.

Esmo Open, 2025

41167083 (PubMed )
Supplement: mmc5.xlsx › Table_S12B

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_MOESM2_ESM.xlsx › liquid_biopsy

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

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

MutationAssessor in cBioPortal.

Su Y et al.

Biorxiv : the Preprint Server for Biology, 2025

40832239 (PubMed )
Supplement: media-1.pdf

Immunohistochemical and molecular evolutionary features of jejunoileal adenocarcinoma unveiled through comparative analysis with colorectal adenocarcinoma.

Ishikawa R et al.

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

40403397 (PubMed )
Supplement: mmc5.xlsx › Supplementary_Table_S5D

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

MET exon 14 skipping mutations in non-small-cell lung cancer a 3 years screening experience.

Dhiab RB et al.

Scientific Reports, 2025

40456875 (PubMed )
Supplement: 41598_2025_99541_MOESM2_ESM.xlsx › Feuil1

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

Takamatsu R et al.

Archives of Pathology & Laboratory Medicine, 2025

Genotyping as Part of Routine Clinical Care-The Outcomes for a Large Paediatric Vascular Anomaly Cohort.

O'Sullivan S et al.

American Journal of Medical Genetics. Part A, 2025

Variants of Uncertain Significance in Vascular Anomalies: The Role of Reclassification.

Blatt J et al.

Pediatric Blood & Cancer, 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

Whole exome sequencing of multi-regions reveals tumor heterogeneity in Opisthorchis viverrini-associated cholangiocarcinoma.

Sitthirak S et al.

Scientific Reports, 2025

40157958 (PubMed )
Supplement: 41598_2025_95142_MOESM17_ESM.xlsx › Sheet1

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

Molecular characterization of colorectal cancer (CRC) using next generation sequencing (NGS) in bridging the gap between research and clinical practice: from biomarker discovery to clinical implementation.

Afolabi HA et al.

Discover Oncology, 2025

Longitudinal multimodal profiling of IDH-wildtype glioblastoma reveals the molecular evolution and cellular phenotypes underlying prognostically different treatment responses.

Lucas CG et al.

Neuro-oncology, 2025

39560080 (PubMed )
Supplement: noae214_suppl_supplementary_tables.xlsx › Table_S5

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

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

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

Cokpinar S et al.

Journal of Clinical Medicine, 2024

Genomic landscape of malignant phyllodes tumors reveals multiple targetable opportunities.

Rosenberger LH et al.

The Oncologist, 2024

Molecular characteristics of advanced colorectal cancer and multi-hit PIK3CA mutations.

Yasin F et al.

The Oncologist, 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

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

PD-L1 and nectin-4 expression and genomic characterization of bladder cancer with divergent differentiation.

Martini DJ et al.

Cancer, 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

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_MOESM2_ESM.xlsx › Supplementary_Data_2

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

Organismal metabolism regulates the expansion of oncogenic PIK3CA mutant clones in normal esophagus.

Herms A et al.

Nature Genetics, 2024

39169259 (PubMed )
Supplement: 41588_2024_1891_MOESM5_ESM.xlsx › Supplementary_Table_5

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
1–50 of 385 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."