Varaico: Literature-Extracted Genetic Variants

Gene:ESR1
Variant:p.H356D
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ESR1

NM_000125.4:p.H356D

Associated Papers

Genomic landscape of metastatic breast cancers in young adults: a liquid biopsy analysis of women aged 20-40 years.

Diab E et al.

Breast (edinburgh, Scotland), 2026

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

Identifying prognostic biomarkers for palbociclib add-on therapy in fulvestrant-resistant breast cancer using cell-free DNA sequencing.

Takeshita T et al.

Esmo Open, 2024

38387111 (PubMed )
Supplement: mmc2.xlsx › Baseline

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

37883178 (PubMed )
Supplement: jci-134-163242-s231.xlsx › TableS5

ESR1 mutations in breast cancer.

Dustin D et al.

Cancer, 2019

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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."