Varaico: Literature-Extracted Genetic Variants

Gene:PIK3CA
Variant:p.D538G
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PIK3CA

NM_006218.4:p.D538G

Associated Papers

ESR1 ctDNA testing: literature review and comparison of assays for ESR1 mutation detection in advanced hormone receptor-positive breast cancer.

Yarunin A et al.

Expert Review of Molecular Diagnostics, 2025

Clinical impact of single-gene vs. panel sequencing in advanced HR + /HER2- breast cancer: insights and implications.

Klocker EV et al.

Npj Breast Cancer, 2025

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

Development and validation of a multi-marker liquid bead array assay for the simultaneous detection of PIK3CA and ESR1 hotspot mutations in single circulating tumor cells (CTCs).

Stergiopoulou D et al.

Heliyon, 2024

39386783 (PubMed )
Supplement: mmc1.docx

Whole-genome mapping of APOBEC mutagenesis in metastatic urothelial carcinoma identifies driver hotspot mutations and a novel mutational signature.

Nakauma-González JA et al.

Cell Genomics, 2024

38552621 (PubMed )
Supplement: mmc11.pdf

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

Lee H et al.

Cancer Research and Treatment, 2024

Open-label, phase II, multicenter study of lasofoxifene plus abemaciclib for treating women with metastatic ER+/HER2- breast cancer and an ESR1 mutation after disease progression on prior therapies: ELAINE 2.

Damodaran S et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2023

ESR1 Gene Mutations and Liquid Biopsy in ER-Positive Breast Cancers: A Small Step Forward, a Giant Leap for Personalization of Endocrine Therapy?

Betz M et al.

Cancers, 2023

Modeling the novel SERD elacestrant in cultured fulvestrant-refractory HR-positive breast circulating tumor cells.

Dubash TD et al.

Breast Cancer Research and Treatment, 2023

Validation of liquid biopsy for ESR1-mutation analysis in hormone-sensitive breast cancer: a pooled meta-analysis.

Najim O et al.

Frontiers in Oncology, 2023

AMEERA-1 phase 1/2 study of amcenestrant, SAR439859, in postmenopausal women with ER-positive/HER2-negative advanced breast cancer.

Bardia A et al.

Nature Communications, 2022

ESR1 mutations and therapeutic resistance in metastatic breast cancer: progress and remaining challenges.

Herzog SK et al.

British Journal of Cancer, 2022

[Relevant mutations in predictive breast cancer pathology].

Kreipe HH et al.

Der Pathologe, 2021

Comprehensive molecular profiling of Taiwanese breast cancers revealed potential therapeutic targets: prevalence of actionable mutations among 380 targeted sequencing analyses.

Huang CC et al.

Bmc Cancer, 2021

ESR1 NAPA Assay: Development and Analytical Validation of a Highly Sensitive and Specific Blood-Based Assay for the Detection of ESR1 Mutations in Liquid Biopsies.

Stergiopoulou D et al.

Cancers, 2021

Secondary Resistant Mutations to Small Molecule Inhibitors in Cancer Cells.

Hamid AB et al.

Cancers, 2020

32283832 (PubMed )
Supplement: cancers-12-00927-s001.pdf

Clinical Implications of Monitoring ESR1 Mutations by Circulating Tumor DNA in Estrogen Receptor Positive Metastatic Breast Cancer: A Pilot Study.

Li X et al.

Translational Oncology, 2020

ESR1 mutations: a new biomarker in breast cancer.

Carausu M et al.

Expert Review of Molecular Diagnostics, 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

Immunohistochemical analysis of estrogen receptor in breast cancer with ESR1 mutations detected by hybrid capture-based next-generation sequencing.

Ross DS et al.

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

The distinct clinicopathological and prognostic implications of PIK3CA mutations in breast cancer patients from Central China.

Wu H et al.

Cancer Management and Research, 2019

Whole genome amplification of cell-free DNA enables detection of circulating tumor DNA mutations from fingerstick capillary blood.

Gyanchandani R et al.

Scientific Reports, 2018

Widespread Selection for Oncogenic Mutant Allele Imbalance in Cancer.

Bielski CM et al.

Cancer Cell, 2018

Personalizing aromatase inhibitor therapy in patients with breast cancer.

Hamadeh IS et al.

Cancer Treatment Reviews, 2018

Validating Comprehensive Next-Generation Sequencing Results for Precision Oncology: The NCT/DKTK Molecularly Aided Stratification for Tumor Eradication Research Experience.

Lier A et al.

Jco Precision Oncology, 2018

35135162 (PubMed )
Supplement: ds_po.18.00171-2.pdf

The Impact of ESR1 Mutations on the Treatment of Metastatic Breast Cancer.

Pejerrey SM et al.

Hormones & Cancer, 2018

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

Upregulation of IRS1 Enhances IGF1 Response in Y537S and D538G ESR1 Mutant Breast Cancer Cells.

Li Z et al.

Endocrinology, 2018

Clinically Observed Estrogen Receptor Alpha Mutations within the Ligand-Binding Domain Confer Distinguishable Phenotypes.

Jia S et al.

Oncology, 2018

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

Takeshita T et al.

Oncotarget, 2017

28881720 (PubMed )
Supplement: oncotarget-08-52142-s005.docx

The Evolving Role of the Estrogen Receptor Mutations in Endocrine Therapy-Resistant Breast Cancer.

Jeselsohn R et al.

Current Oncology Reports, 2017

Next Generation Sequencing of Circulating Cell-Free DNA for Evaluating Mutations and Gene Amplification in Metastatic Breast Cancer.

Page K et al.

Clinical Chemistry, 2017

The genomic landscape and evolution of endometrial carcinoma progression and abdominopelvic metastasis.

Gibson WJ et al.

Nature Genetics, 2016

27348297 (PubMed )
Supplement: NIHMS791814-supplement-1.pdf

ESR1 mutations affect anti-proliferative responses to tamoxifen through enhanced cross-talk with IGF signaling.

Gelsomino L et al.

Breast Cancer Research and Treatment, 2016

Heterogeneity and clinical significance of ESR1 mutations in ER-positive metastatic breast cancer patients receiving fulvestrant.

Spoerke JM et al.

Nature Communications, 2016

27174596 (PubMed )
Supplement: ncomms11579-s1.pdf

The diagnostic application of RNA sequencing in patients with thyroid cancer: an analysis of 851 variants and 133 fusions in 524 genes.

Pagan M et al.

Bmc Bioinformatics, 2016

26818556 (PubMed )
Supplement: 12859_2015_849_MOESM3_ESM.pdf

Emergence of constitutively active estrogen receptor-α mutations in pretreated advanced estrogen receptor-positive breast cancer.

Jeselsohn R et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2014

ESR1 ligand-binding domain mutations in hormone-resistant breast cancer.

Toy W et al.

Nature Genetics, 2013

The structural impact of cancer-associated missense mutations in oncogenes and tumor suppressors.

Stehr H et al.

Molecular Cancer, 2011

21575214 (PubMed )
Supplement: 1476-4598-10-54-S3.XLS › mutations.txt
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