Varaico: Literature-Extracted Genetic Variants

Gene:PIK3CA
Variant:p.P539R
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PIK3CA

NM_006218.4:p.P539R

Associated Papers

Coexistent PTEN and PIK3CA alterations hyperactivate mTORC1 signaling in endometrial cancers and cause their selective sensitivity to mTORC1 inhibition.

Solomon H et al.

Biorxiv : the Preprint Server for Biology, 2026

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

Tagore S et al.

Nature Genetics, 2026

EGFR amplification and PI3K pathway mutations identify a subset of breast cancers that synergistically respond to EGFR and PI3K inhibition.

Wisniewski DJ et al.

Oncogene, 2026

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

Comparative Performance of a Targeted Next-Generation Sequencing Assay Against Multiplexed Digital PCR Assays in Detecting ERBB2, ESR1, and PIK3CA Mutations in Plasma Circulating Cell-Free DNA from Liquid Biopsies.

Corné J et al.

The Journal of Molecular Diagnostics : Jmd, 2025

PIK3CA-Related Phenotypes due to Germline and Somatic Mosaic Variants: A two-Case Report.

Acikgoz NB et al.

Molecular Syndromology, 2025

Apocrine carcinoma of the breast: distinctive metabolic reprogramming and high-frequency PIK3CA mutations revealed by molecular and immunohistochemical analysis.

Nakamura H et al.

Histopathology, 2025

Clinical and Molecular Characteristics of KRAS Codon-Specific Mutations in Advanced Pancreatic Ductal Adenocarcinoma with Prognostic and Therapeutic Implications.

Cho D et al.

International Journal of Molecular Sciences, 2025

41303394 (PubMed )
Supplement: ijms-26-10908-s001.zip › ijms-3903719-supplementary.pdf

Genomic landscape of endometrial polyps.

Reinikka S et al.

Genome Medicine, 2025

41137179 (PubMed )
Supplement: 13073_2025_1556_MOESM1_ESM.xlsx › S1

EGFR amplification and PI3K pathway mutations identify a subset of breast cancers that synergistically respond to EGFR and PI3K inhibition.

Wisniewski DJ et al.

Biorxiv : the Preprint Server for Biology, 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

Automated and Decentralized Genomic Profiling of Plasma Cell-Free DNA for Identification of Targetable and Resistance Alterations in Advanced Solid Tumors.

Chan HT et al.

Clinical Chemistry, 2025

40320741 (PubMed )
Supplement: hvaf045_supplementary_data.zip › Supplementary_tables_revision4.pdf

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

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

Cokpinar S et al.

Journal of Clinical Medicine, 2024

Survey for Activating Oncogenic Mutation Variants in Metazoan Germline Genes.

Krueger KE

Journal of Molecular Evolution, 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

An Analysis of Genetic Polymorphisms in 76 Genes Related to the Development of Ovarian Tumors of Different Aggressiveness.

Szafron LA et al.

International Journal of Molecular Sciences, 2024

39456660 (PubMed )
Supplement: ijms-25-10876-s001.zip › Supplement-variants.xlsx › 44.genes.SNP_all_variants

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

Characterizing multi-PIK3CA mutations across cancer types: Toward precision oncology.

Nakamura K et al.

Cancer Medicine, 2024

39054873 (PubMed )
Supplement: CAM4-13-e70052-s002.xlsx › Table_S2

PIK3CA mutations in endocrine-resistant breast cancer.

Schagerholm C et al.

Scientific Reports, 2024

Identifying prognostic biomarkers for palbociclib add-on therapy in fulvestrant-resistant breast cancer using cell-free DNA sequencing.

Takeshita T et al.

Esmo Open, 2024

38387111 (PubMed )
Supplement: mmc2.xlsx › Baseline

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

Landscape and Saturation Analysis of Mutations Associated With Race in Cancer Genomes by Clinical Sequencing.

Muquith M et al.

The Oncologist, 2024

Functional Homologous Recombination (HR) Screening Shows the Majority of BRCA1/2-Mutant Breast and Ovarian Cancer Cell Lines Are HR-Proficient.

Meijer TG et al.

Cancers, 2024

38398132 (PubMed )
Supplement: cancers-16-00741-s001.zip › Table_S1-2_WES_results.xlsx › Table_S1

Exploring Co-occurring POLE Exonuclease and Non-exonuclease Domain Mutations and Their Impact on Tumor Mutagenicity.

Shah SM et al.

Cancer Research Communications, 2024

38282550 (PubMed )
Supplement: crc-23-0312-s02.xlsx › Fig3B_EC_data

Overcoming Resistance in Cancer Therapy: Computational Exploration of PIK3CA Mutations, Unveiling Novel Non-Toxic Inhibitors, and Molecular Insights Into Targeting PI3Kα.

Kandoussi I et al.

Bioinformatics and Biology Insights, 2024

Mutation of MET D1228N as an Acquired Potential Mechanism of Crizotinib Resistance in NSCLC with MET Y1003H Mutation.

Zhu J et al.

Lung Cancer (auckland, N.z.), 2024

PI3K Mutation Profiles on Exons 9 (E545K and E542K) and 20 (H1047R) in Mexican Patients With HER-2 Overexpressed Breast Cancer and Its Relevance on Clinical-Pathological and Survival Biological Effects.

Nieto-Coronel T et al.

International Journal of Breast Cancer, 2024

Association of PIK3CA somatic mutations with clinicopathological parameters in breast cancer.

Teoman G et al.

Polish Journal of Pathology : Official Journal of the Polish Society of Pathologists, 2024

STX-478, a Mutant-Selective, Allosteric PI3Kα Inhibitor Spares Metabolic Dysfunction and Improves Therapeutic Response in PI3Kα-Mutant Xenografts.

Buckbinder L et al.

Cancer Discovery, 2023

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

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

Machine learning-based somatic variant calling in cell-free DNA of metastatic breast cancer patients using large NGS panels.

Jongbloed EM et al.

Scientific Reports, 2023

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

Systematic Pan-cancer Functional Inference and Validation of Hyper, Hypo and Neomorphic Mutations.

Tagore S et al.

Biorxiv : the Preprint Server for Biology, 2023

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

Hutchinson KE et al.

Genome Medicine, 2023

Network-informed discovery of multidrug combinations for ERα+/HER2-/PI3Kα-mutant breast cancer.

Hany D et al.

Cellular and Molecular Life Sciences : Cmls, 2023

Pan-cancer clinical impact of latent drivers from double mutations.

Yavuz BR et al.

Communications Biology, 2023

36808143 (PubMed )
Supplement: 42003_2023_4519_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

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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."