Varaico: Literature-Extracted Genetic Variants

Gene:ESR1
Variant:p.L469V
Back to variants list

ESR1

NM_000125.4:p.L469V

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

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

Whole-Exome Sequencing Reveals Novel Candidate Driver Mutations and Potential Druggable Mutations in Patients with High-Risk Neuroblastoma.

Nokchan N et al.

Journal of Personalized Medicine, 2024

39338204 (PubMed )
Supplement: jpm-14-00950-s001.zip › Supplementary_Table_S5.xlsx › Supplementary_Table_S5.

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

Higa N et al.

Journal of Molecular Pathology, 2024

41614092 (PubMed )
Supplement: NIHMS2059476-supplement-Supplementary_Material.pdf

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

Horie S et al.

Cancer Discovery, 2024

Somatic estrogen receptor α mutations that induce dimerization promote receptor activity and breast cancer proliferation.

Irani S et al.

The Journal of Clinical Investigation, 2024

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

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

Genomic profile of advanced breast cancer in circulating tumour DNA.

Kingston B et al.

Nature Communications, 2021

33893289 (PubMed )
Supplement: 41467_2021_22605_MOESM4_ESM.xlsx › SNVs_Indels

Preexisting Somatic Mutations of Estrogen Receptor Alpha (ESR1) in Early-Stage Primary Breast Cancer.

Dahlgren M et al.

Jnci Cancer Spectrum, 2021

33937624 (PubMed )
Supplement: pkab028_supplementary_data.pdf

Quantitative Evaluation of the Transcriptional Activity of Steroid Hormone Receptor Mutants and Variants Using a Single Vector With Two Reporters and a Receptor Expression Cassette.

Ji H et al.

Frontiers in Endocrinology, 2020

Structural underpinnings of oestrogen receptor mutations in endocrine therapy resistance.

Katzenellenbogen JA et al.

Nature Reviews. Cancer, 2018

Implications of ESR1 Mutations in Hormone Receptor-Positive Breast Cancer.

Reinert T et al.

Current Treatment Options in Oncology, 2018

Recurrent hyperactive ESR1 fusion proteins in endocrine therapy-resistant breast cancer.

Hartmaier RJ et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2018

29360925 (PubMed )
Supplement: mdy025_suppl_data.zip › mdy025_Supplementary_Tables.xlsx › SupplTable7

Activating ESR1 Mutations Differentially Affect the Efficacy of ER Antagonists.

Toy W et al.

Cancer Discovery, 2017

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."