Varaico: Literature-Extracted Genetic Variants

Gene:PIK3CA
Variant:p.Q546P
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PIK3CA

NM_006218.4:p.Q546P

Associated Papers

Tall cell carcinoma with reversed polarity of the breast harbouring IDH1 hotspot mutation: morphologic, immunohistochemical and genetic characterization of two cases.

Krings G et al.

Histopathology, 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

Discovery metabolomics and genetic analysis reveal lipid pathway alterations associated with malignant phenotype acquisition in pleomorphic adenoma and a novel NTF3::ITPR2 fusion in carcinoma ex pleomorphic adenoma.

de Lima-Souza RA 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

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

Circulating tumor DNA profiling for non-invasive genomic analysis in Indian lung cancer patients: A real-world experience.

Jha P et al.

The Journal of Liquid Biopsy, 2025

40503459 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_S2

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

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

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

Single-center analysis of a real-world cohort of patients with metastatic urothelial carcinoma evaluated by NGS: molecular landscape and efficacy of targeted therapies.

Gutiérrez Pérez C et al.

Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, 2025

Clinicopathogenomic analysis of PI3K/AKT/PTEN-altered luminal metastatic breast cancer in Japan.

Tada H et al.

Breast Cancer (tokyo, Japan), 2025

Genome sequencing enhances the diagnostic yield and expands the genetic landscape of male breast cancer.

Wen W et al.

Genetics in Medicine Open, 2025

39981113 (PubMed )
Supplement: mmc5.xlsx › Sheet1

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

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

Survey for Activating Oncogenic Mutation Variants in Metazoan Germline Genes.

Krueger KE

Journal of Molecular Evolution, 2024

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

Similar genetic profile in early and late stage urothelial tract cancer.

Stormoen DR et al.

Journal of Cancer Research and Clinical Oncology, 2024

38976041 (PubMed )
Supplement: 432_2024_5850_MOESM2_ESM.xlsx › TCGA-cohort

A cystic and bullous lung disease associated with a PIK3CA-related overgrowth syndrome.

Halitim P et al.

Erj Open Research, 2024

PIK3CA Hotspot Mutations in Saliva as a Diagnostic Marker in Oral Squamous Cell Carcinoma Patients.

Krüger K et al.

Anticancer Research, 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

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

Genomic landscape and tumor mutational features of resected preinvasive to invasive lung adenocarcinoma.

Lin Y et al.

Frontiers in Oncology, 2024

38803537 (PubMed )
Supplement: Table_1.xlsx › Table_S4

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

Development and Validation of a Novel Dual-Drop-off ddPCR Assay for the Simultaneous Detection of Ten Hotspots PIK3CA Mutations.

Stergiopoulou D et al.

Analytical Chemistry, 2023

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

Molecular profiling of a real-world breast cancer cohort with genetically inferred ancestries reveals actionable tumor biology differences between European ancestry and African ancestry patient populations.

Miyashita M et al.

Breast Cancer Research : Bcr, 2023

37231433 (PubMed )
Supplement: 13058_2023_1627_MOESM4_ESM.xlsx › HR_HER2-__mutations_

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

PIK3CA Mutations as a Prognostic Factor in Patients With Residual Rectal Cancer After Neoadjuvant Chemoradiotherapy.

Byun J et al.

Anticancer Research, 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

Anticancer effects of alpelisib on PIK3CA-mutated canine mammary tumor cell lines.

Yeom J et al.

Frontiers in Veterinary Science, 2023

Neoadjuvant afatinib with paclitaxel for triple-negative breast cancer and the molecular characteristics in responders and non-responders.

Lin PH et al.

Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2022

Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Boström M et al.

Nature Communications, 2022

36396655 (PubMed )
Supplement: 41467_2022_34746_MOESM10_ESM.xlsx › Supplementary_Data_7

Shallow WGS of individual CTCs identifies actionable targets for informing treatment decisions in metastatic breast cancer.

Fernandez-Garcia D et al.

British Journal of Cancer, 2022

36088510 (PubMed )
Supplement: 41416_2022_1962_MOESM2_ESM.xlsx › Supp_Table_4-Oncomine_results

Phenotypic plasticity and genetic control in colorectal cancer evolution.

Househam J et al.

Nature, 2022

Prospective genomically guided identification of "early/evolving" and "undersampled" IDH-wildtype glioblastoma leads to improved clinical outcomes.

Zhang Y et al.

Neuro-oncology, 2022

35395677 (PubMed )
Supplement: noac089_suppl_supplementary_tables_s1-s11.xlsx › Table_S2_TCGA_cohort

Clinicopathologic Characteristics and Outcomes for Patients With KRAS G12D-Mutant NSCLC.

Cooper AJ et al.

Jto Clinical and Research Reports, 2022

36118132 (PubMed )
Supplement: mmc2.docx

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

Clinical value of next-generation sequencing in guiding decisions regarding endocrine therapy for advanced HR-positive/HER-2-negative breast cancer.

Lyu D et al.

Chinese Journal of Cancer Research = Chung-kuo Yen Cheng Yen Chiu, 2022

Multi-gene custom panels for the characterisation of metastatic colorectal carcinoma in clinical practice: express the role of PIK3CA mutations.

de Biase D et al.

Journal of Clinical Pathology, 2022

The Prevalence of BRAF, PIK3CA, and RAS Mutations in Indian Patients with Colorectal Cancer.

Shetty O et al.

South Asian Journal of Cancer, 2022

Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Gounder MM et al.

Nature Communications, 2022

35705558 (PubMed )
Supplement: 41467_2022_30496_MOESM2_ESM.xls › variants_table_final_for_supple

Whole-Exome Sequencing Reveals Clinical Potential of Circulating Tumor DNA from Peritoneal Fluid and Plasma in Endometrial Cancer.

Ju HY et al.

Cancers, 2022

35626111 (PubMed )
Supplement: cancers-14-02506-s001.zip › Supplementary_Tables.xlsx › Supplementary_Table_S2

CancerVar: An artificial intelligence-empowered platform for clinical interpretation of somatic mutations in cancer.

Li Q et al.

Science Advances, 2022

35544644 (PubMed )
Supplement: sciadv.abj1624_table_s3.zip › sciadv.abj1624_table_s3.xlsx › Supp-Table-3

Utility of Select Gene Mutation Detection in Tumors by the Idylla Rapid Multiplex PCR Platform in Comparison to Next-Generation Sequencing.

Nkosi D et al.

Genes, 2022

35627184 (PubMed )
Supplement: genes-13-00799-s001.zip › genes-1613678-supplementary.pdf
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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."