Varaico: Literature-Extracted Genetic Variants

Gene:ESR1
Variant:p.R555H
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ESR1

NM_000125.4:p.R555H

Associated Papers

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

Identification of Potential Genomic Alterations Using Pan-Cancer Cell-Free DNA Next-Generation Sequencing in Patients With Gastric Cancer.

Kim B et al.

Annals of Laboratory Medicine, 2024

37903652 (PubMed )
Supplement: alm-44-2-164-supple1.xlsx › Assay_B

Clinical and Genetic Characteristics of Early and Advanced Gastric Cancer.

Ha GW et al.

Current Issues in Molecular Biology, 2024

Real-Time Detection of ESR1 Mutation in Blood by Droplet Digital PCR in the PADA-1 Trial: Feasibility and Cross-Validation with NGS.

Callens C et al.

Analytical Chemistry, 2022

Steroid Hormone Receptor and Infiltrating Immune Cell Status Reveals Therapeutic Vulnerabilities of ESR1-Mutant Breast Cancer.

Williams MM et al.

Cancer Research, 2021

Targeted mutation detection in breast cancer using MammaSeq™.

Smith NG et al.

Breast Cancer Research : Bcr, 2019

30736836 (PubMed )
Supplement: 13058_2019_1102_MOESM7_ESM.xlsx › Solid_Tumors

Targeting HER2 in colorectal cancer: The landscape of amplification and short variant mutations in ERBB2 and ERBB3.

Ross JS et al.

Cancer, 2018

29338072 (PubMed )
Supplement: CNCR-124-1358-s002.xlsx › Colon

Highly sensitive detection of ESR1 mutations in cell-free DNA from patients with metastatic breast cancer using molecular barcode sequencing.

Masunaga N et al.

Breast Cancer Research and Treatment, 2018

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

Estrogen receptor α gene analysis in girls with central precocious puberty.

Lee HS et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2013

Association of estrogen receptor alpha polymorphisms with susceptibility to chronic hepatitis B virus infection.

Deng G et al.

Hepatology (baltimore, Md.), 2004

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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."