Varaico: Literature-Extracted Genetic Variants

Gene:ESR1
Variant:p.K303R
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ESR1

NM_000125.4:p.K303R

Associated Papers

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

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

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

Evolutionary Overview and Future Perspectives: ESR1 Mutations, Liquid Biopsy, and Artificial Intelligence for a New Era of Personalized Medicine in ER+ Breast Cancer.

Martella S et al.

Molecular Diagnosis & Therapy, 2025

Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.

Abujamous L et al.

The Oncologist, 2025

40665690 (PubMed )
Supplement: oyaf205_supplementary_data.zip › SupplementaryTable1.xlsx › SupplementaryTable1

Screening and identification of HLA-A2-restricted neoepitopes for immunotherapy in endocrine therapy-resistant breast cancer.

Wang M et al.

Neoplasia (new York, N.y.), 2025

Molecular Profiling of Endocrine Resistance in HR+/HER2-Metastatic Breast Cancer: Insights from Extracellular Vesicles-Derived DNA and ctDNA in Liquid Biopsies.

Martínez-Rodríguez A et al.

International Journal of Molecular Sciences, 2024

GLI1 confers resistance to PARP inhibitors by activating the DNA damage repair pathway.

Ikeuchi H et al.

Oncogene, 2024

39095584 (PubMed )
Supplement: 41388_2024_3105_MOESM2_ESM.xlsx › Supplementary_Table_S6

EstroGene2.0: A multi-omic database of response to estrogens, ER-modulators, and resistance to endocrine therapies in breast cancer.

Li Z et al.

Biorxiv : the Preprint Server for Biology, 2024

39005294 (PubMed )
Supplement: media-2.xlsx › ESR1_Mutation

Estrogen receptor α K303R mutation reorganizes its binding to forkhead box protein A1 regions and induces chromatin opening.

Nakadai T et al.

Molecular Biology Reports, 2023

Primary endocrine resistance of ER+ breast cancer with ESR1 mutations interrogated by droplet digital PCR.

Ahn SG et al.

Npj Breast Cancer, 2022

Ensemble of nucleic acid absolute quantitation modules for copy number variation detection and RNA profiling.

Wu LR et al.

Nature Communications, 2022

35379811 (PubMed )
Supplement: 41467_2022_29487_MOESM4_ESM.xlsx › 175_plex_primers

Highly sensitive liquid biopsy Duplex sequencing complements tissue biopsy to enhance detection of clinically relevant genetic variants.

Hallermayr A et al.

Frontiers in Oncology, 2022

36636551 (PubMed )
Supplement: Table_1.xlsx › Supplementary_Table_2

DeteX: A highly accurate software for detecting SNV and InDel in single and paired NGS data in cancer research.

Cui Y et al.

Frontiers in Genetics, 2022

36685970 (PubMed )
Supplement: Table5.xlsx › Sheet1

Calibration-free NGS quantitation of mutations below 0.01% VAF.

Dai P et al.

Nature Communications, 2021

34675197 (PubMed )
Supplement: 41467_2021_26308_MOESM1_ESM.pdf

Estrogen receptor-α signaling in post-natal mammary development and breast cancers.

Rusidzé M et al.

Cellular and Molecular Life Sciences : Cmls, 2021

Endocrine Resistance in Breast Cancer: The Role of Estrogen Receptor Stability.

Jeffreys SA et al.

Cells, 2020

Prevalence of ESR1 Mutation in Chinese ER-Positive Breast Cancer.

Zhu W et al.

Oncotargets and Therapy, 2020

Standardization of Somatic Variant Classifications in Solid and Haematological Tumours by a Two-Level Approach of Biological and Clinical Classes: An Initiative of the Belgian ComPerMed Expert Panel.

Froyen G et al.

Cancers, 2019

The Emerging Role of ESR1 Mutations in Luminal Breast Cancer as a Prognostic and Predictive Biomarker of Response to Endocrine Therapy.

De Santo I et al.

Cancers, 2019

ESR1 mutations in breast cancer.

Dustin D et al.

Cancer, 2019

Estrogen receptor 1 mutations in 260 cervical cancer samples from Chinese patients.

Yang XM et al.

Oncology Letters, 2019

Insights into how phosphorylation of estrogen receptor at serine 305 modulates tamoxifen activity in breast cancer.

Kastrati I et al.

Molecular and Cellular Endocrinology, 2019

Targeted mutation detection in breast cancer using MammaSeq™.

Smith NG et al.

Breast Cancer Research : Bcr, 2019

30736836 (PubMed )
Supplement: 13058_2019_1102_MOESM2_ESM.xlsx › Sheet1

Personalized medicine in breast cancer: pharmacogenomics approaches.

Jeibouei S et al.

Pharmacogenomics and Personalized Medicine, 2019

Dynamics Insights Into the Gain of Flexibility by Helix-12 in ESR1 as a Mechanism of Resistance to Drugs in Breast Cancer Cell Lines.

Khan A et al.

Frontiers in Molecular Biosciences, 2019

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

Pejerrey SM et al.

Hormones & Cancer, 2018

Detection of ESR1 mutations in circulating cell-free DNA from patients with metastatic breast cancer treated with palbociclib and letrozole.

Gyanchandani R et al.

Oncotarget, 2017

Detection of ESR1 mutations in plasma and tumors from metastatic breast cancer patients using next-generation sequencing.

Yanagawa T et al.

Breast Cancer Research and Treatment, 2017

ESR1 mutations: Moving towards guiding treatment decision-making in metastatic breast cancer patients.

Angus L et al.

Cancer Treatment Reviews, 2017

ESR1 Mutations in Cell-Free DNA of Breast Cancer: Predictive "Tip of the Iceberg".

Fuqua SA et al.

Jama Oncology, 2016

Selective binding of estrogen receptor α to ubiquitin chains.

Pesiri V et al.

Iubmb Life, 2016

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

Sensitive Detection of Mono- and Polyclonal ESR1 Mutations in Primary Tumors, Metastatic Lesions, and Cell-Free DNA of Breast Cancer Patients.

Wang P et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2016

Functional annotation of rare gene aberration drivers of pancreatic cancer.

Tsang YH et al.

Nature Communications, 2016

26806015 (PubMed )
Supplement: ncomms10500-s2.xls › Sheet1

ESR1 mutations—a mechanism for acquired endocrine resistance in breast cancer.

Jeselsohn R et al.

Nature Reviews. Clinical Oncology, 2015

Estrogen receptor mutations found in breast cancer metastases integrated with the molecular pharmacology of selective ER modulators.

Jordan VC et al.

Journal of the National Cancer Institute, 2015

Estrogen receptor (ER) α mutations in breast cancer: hidden in plain sight.

Fuqua SA et al.

Breast Cancer Research and Treatment, 2014

D538G mutation in estrogen receptor-α: A novel mechanism for acquired endocrine resistance in breast cancer.

Merenbakh-Lamin K et al.

Cancer Research, 2013

Association of estrogen receptor-α A908G (K303R) mutation with breast cancer risk.

Abbasi S et al.

International Journal of Clinical and Experimental Medicine, 2013

Mutations and polymorphisms of estrogens receptors genes and diseases susceptibility.

Kallel I et al.

Journal of Receptor and Signal Transduction Research, 2012

Structural basis for Ca2+-induced activation and dimerization of estrogen receptor α by calmodulin.

Zhang Y et al.

The Journal of Biological Chemistry, 2012

Leptin mediates tumor-stromal interactions that promote the invasive growth of breast cancer cells.

Barone I et al.

Cancer Research, 2012

A conserved surface on the ligand binding domain of nuclear receptors for allosteric control.

Buzón V et al.

Molecular and Cellular Endocrinology, 2012

Estrogen receptor genes variations and breast cancer risk in Iran.

Abbasi S et al.

International Journal of Clinical and Experimental Medicine, 2012

Absence of the K303R estrogen receptor α mutation in breast cancer patients exhibiting different responses to aromatase inhibitor anastrozole neoadjuvant treatment.

Ghimenti C et al.

Experimental and Therapeutic Medicine, 2010

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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."