Varaico: Literature-Extracted Genetic Variants

Gene:ESR1
Variant:p.E542K
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ESR1

NM_000125.4:p.E542K

Associated Papers

PIK3CA mutation in ER-negative and HER2-positive breast cancer with apocrine differentiation.

Nozaki F et al.

Breast Cancer (tokyo, Japan), 2026

Clinical and Genomic Factors Associated with Elacestrant Outcomes in ESR1-Mutant Metastatic Breast Cancer.

Lloyd MR et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2026

Assessing endocrine resistance: monitoring circulating ESR1 mutations in Irosustat-treated ER positive breast cancer.

Page K et al.

Breast Cancer Research and Treatment, 2025

41364261 (PubMed )
Supplement: 10549_2025_7857_MOESM7_ESM.xlsx › Supp_Table_2

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

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

ESR1 testing on FFPE samples from metastatic lesions in HR + /HER2- breast cancer after progression on CDK4/6 inhibitor therapy.

Venetis K et al.

Breast Cancer Research : Bcr, 2025

Identification of Somatic Genetic Variants in Superficial Vascular Malformations by Liquid Biopsy in a Cohort of 88 Patients from a French Hospital.

El Sissy FN et al.

Molecular Diagnosis & Therapy, 2025

Detection of ESR1 Mutations in Tissue and Liquid Biopsy with Novel Next-Generation Sequencing and Digital Droplet PCR Assays: Insights from Multi-Center Real Life Data of Almost 6000 Patients.

Borkar S et al.

Cancers, 2025

40282442 (PubMed )
Supplement: cancers-17-01266-s001.zip › cancers-3540268-supplementary.pdf

Reporting of molecular test results from cell-free DNA analyses: expert consensus recommendations from the 2023 European Liquid Biopsy Society ctDNA Workshop.

de Jager VD et al.

Ebiomedicine, 2025

40121940 (PubMed )
Supplement: mmc4.docx

Unveiling the role of PIK3R1 in cancer: A comprehensive review of regulatory signaling and therapeutic implications.

Gupta I et al.

Seminars in Cancer Biology, 2024

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

Association of ESR1 Germline Variants with TP53 Somatic Variants in Breast Tumors in a Genome-wide Study.

Tjader NP et al.

Cancer Research Communications, 2024

Liquid Biopsy Profiling with Multiple Tests in Patients with Metastatic Breast Cancer.

Higa N et al.

Journal of Molecular Pathology, 2024

Pan-Cancer Comparative and Integrative Analyses of Driver Alterations Using Japanese and International Genomic Databases.

Horie S et al.

Cancer Discovery, 2024

Variation Analysis in Premenopausal and Postmenopausal Breast Cancer Cases.

Erdogdu IH et al.

Journal of Personalized Medicine, 2024

Somatic Mutations in Latin American Breast Cancer Patients: A Systematic Review and Meta-Analysis.

Martínez-Nava GA et al.

Diagnostics (basel, Switzerland), 2024

The Study of PIK3CA Hotspot Mutations and Co-Occurring with EGFR, KRAS, and TP53 Mutations in Non-Small Cell Lung Cancer.

Zhang Y et al.

Oncotargets and Therapy, 2024

Mutational Landscape and In-Silico Analysis of TP53, PIK3CA, and PTEN in Patients with Breast Cancer from Khyber Pakhtunkhwa.

Ahmad H et al.

Acs Omega, 2023

Whole exome sequencing identifies novel variants of PIK3CA and validation of hotspot mutation by droplet digital PCR in breast cancer among Indian population.

Kumar R et al.

Cancer Cell International, 2023

Concordance of Targeted Sequencing from Circulating Tumor DNA and Paired Tumor Tissue for Early Breast Cancer.

Huang CC 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

Frequency and mutational spectrum of PIK3CA gene mutations in breast cancer patients: Largest and first report from Lebanon.

Hamadeh LN et al.

Gene, 2023

Alpelisib and fulvestrant in PIK3CA-mutated hormone receptor-positive HER2-negative advanced breast cancer included in the French early access program.

Bello Roufai D et al.

Oncogene, 2023

[Clinically relevant molecular pathological diagnostics in breast cancer].

Rodepeter FR et al.

Pathologie (heidelberg, Germany), 2023

Analysis of PIK3CA Mutation Concordance and Frequency in Primary and Different Distant Metastatic Sites in Breast Cancer.

Park J et al.

Cancer Research and Treatment, 2023

Clinical Efficacy and Whole-Exome Sequencing of Liquid Biopsies in a Phase IB/II Study of Bazedoxifene and Palbociclib in Advanced Hormone Receptor-Positive Breast Cancer.

Tsuji J et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2022

Use of Liquid Biopsy to Detect PIK3CA Mutation in Metastatic Breast Cancer.

Nakai M et al.

Journal of Nippon Medical School = Nippon Ika Daigaku Zasshi, 2022

Sensitive and robust liquid biopsy-based detection of PIK3CA mutations in hormone-receptor-positive metastatic breast cancer patients.

Suppan C et al.

British Journal of Cancer, 2022

The Yin and Yang of ERBB4: Tumor Suppressor and Oncoprotein.

Lucas LM et al.

Pharmacological Reviews, 2022

Therapeutic implications of activating noncanonical PIK3CA mutations in head and neck squamous cell carcinoma.

Jin N et al.

The Journal of Clinical Investigation, 2021

Next-generation sequencing-based identification of EGFR and NOTCH2 complementary mutations in non-small cell lung cancer.

Niu L et al.

Oncology Letters, 2021

BC-Monitor: Towards a Routinely Accessible Circulating Tumor DNA-Based Tool for Real-Time Monitoring Breast Cancer Progression and Treatment Effectiveness.

Priskin K et al.

Cancers, 2021

34298704 (PubMed )
Supplement: cancers-13-03489-s001.zip › Table_S3.xlsx › Table_S1._NCT

[Relevant mutations in predictive breast cancer pathology].

Kreipe HH et al.

Der Pathologe, 2021

PIK3CA somatic alterations in invasive breast cancers: different spectrum from Caucasians to Chinese detected by next generation sequencing.

Jia M et al.

Breast Cancer (tokyo, Japan), 2021

TERT promoter hotspot mutations and gene amplification in metaplastic breast cancer.

da Silva EM et al.

Npj Breast Cancer, 2021

33863915 (PubMed )
Supplement: 41523_2021_250_MOESM1_ESM.pdf

Mutation analysis using cell-free DNA for endocrine therapy in patients with HR+ metastatic breast cancer.

Sim SH et al.

Scientific Reports, 2021

Biomarkers in Breast Cancer: An Integrated Analysis of Comprehensive Genomic Profiling and PD-L1 Immunohistochemistry Biomarkers in 312 Patients with Breast Cancer.

Huang RSP et al.

The Oncologist, 2020

Frequency and spectrum of PIK3CA somatic mutations in breast cancer.

Martínez-Sáez O et al.

Breast Cancer Research : Bcr, 2020

A Systematic Review of the Prevalence and Diagnostic Workup of PIK3CA Mutations in HR+/HER2- Metastatic Breast Cancer.

Anderson EJ et al.

International Journal of Breast Cancer, 2020

Emerging relationships between papillary proliferation of the endometrium and endometrial carcinoma: evidence from an immunohistochemical and molecular analysis.

Liu Q et al.

Virchows Archiv : an International Journal of Pathology, 2019

A Comparison of DNA Mutation and Copy Number Profiles of Primary Breast Cancers and Paired Brain Metastases for Identifying Clinically Relevant Genetic Alterations in Brain Metastases.

Tyran M et al.

Cancers, 2019

Non-invasive analysis of tumor mutation profiles and druggable mutations by sequencing of cell free DNA of Chinese metastatic breast cancer patients.

Li S et al.

Thoracic Cancer, 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

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

Three dimensional primary cultures for selecting human breast cancers that are sensitive to the anti-tumor activity of ipatasertib or taselisib in combination with anti-microtubule cytotoxic drugs.

Orditura M et al.

Breast (edinburgh, Scotland), 2018

Neoadjuvant chemotherapy in breast cancer: a dose-dense schedule in real life and putative role of PIK3CA mutations.

Cocciolone V et al.

Oncotarget, 2018

Structural underpinnings of oestrogen receptor mutations in endocrine therapy resistance.

Katzenellenbogen JA et al.

Nature Reviews. Cancer, 2018

Landscape of somatic mutations in different subtypes of advanced breast cancer with circulating tumor DNA analysis.

Yi Z et al.

Scientific Reports, 2017

Identification of frequent somatic mutations in inflammatory breast cancer.

Matsuda N et al.

Breast Cancer Research and Treatment, 2017

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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."