Varaico: Literature-Extracted Genetic Variants

Gene:ESR1
Variant:p.D545N
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ESR1

NM_000125.4:p.D545N

Associated Papers

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

Nozaki F et al.

Breast Cancer (tokyo, Japan), 2026

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

Variation Analysis in Premenopausal and Postmenopausal Breast Cancer Cases.

Erdogdu IH et al.

Journal of Personalized Medicine, 2024

NGS-based liquid biopsy profiling identifies mechanisms of resistance to ALK inhibitors: a step toward personalized NSCLC treatment.

Sánchez-Herrero E et al.

Molecular Oncology, 2021

34058070 (PubMed )
Supplement: MOL2-15-2363-s001.docx

Induction of PIK3CA alterations during neoadjuvant letrozole may improve outcome in postmenopausal breast cancer patients.

Skriver SK et al.

Breast Cancer Research and Treatment, 2020

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

31086113 (PubMed )
Supplement: cancers-11-00665-s001.zip › Supplementary › Table_S4.xlsx › Suppl_table_4

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

Molecular characterisation of aromatase inhibitor-resistant advanced breast cancer: the phenotypic effect of ESR1 mutations.

Lopez-Knowles E et al.

British Journal of Cancer, 2019

30563991 (PubMed )
Supplement: 41416_2018_345_MOESM10_ESM.xlsx › Table_S1

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

Cocciolone V et al.

Oncotarget, 2018

Molecular evaluation of PIK3CA gene mutation in breast cancer: determination of frequency, distribution pattern and its association with clinicopathological findings in Indian patients.

Ahmad F et al.

Medical Oncology (northwood, London, England), 2016

Reproducibility of Digital PCR Assays for Circulating Tumor DNA Analysis in Advanced Breast Cancer.

Hrebien S et al.

Plos One, 2016

27760227 (PubMed )
Supplement: pone.0165023.s005.xlsx › Sheet1

Heterogeneity of PIK3CA mutational status at the single cell level in circulating tumor cells from metastatic breast cancer patients.

Pestrin M et al.

Molecular Oncology, 2015

Analysis of PIK3CA exon 9 and 20 mutations in breast cancers using PCR-HRM and PCR-ARMS: correlation with clinicopathological criteria.

Harlé A et al.

Oncology Reports, 2013

Phosphatidylinositol 3-kinase (PI3KCA) oncogene mutation analysis and gene expression profiling in primary breast cancer patients.

Kandula M et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2013

Detection of tumor PIK3CA status in metastatic breast cancer using peripheral blood.

Higgins MJ et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2012

PIK3CA mutation impact on survival in breast cancer patients and in ERα, PR and ERBB2-based subgroups.

Cizkova M et al.

Breast Cancer Research : Bcr, 2012

Coactivation of estrogen receptor alpha (ER alpha)/Sp1 by vitamin D receptor interacting protein 150 (DRIP150).

Lee J et al.

Archives of Biochemistry and Biophysics, 2007

Mutation of the PIK3CA gene in ovarian and breast cancer.

Campbell IG et al.

Cancer Research, 2004

Enhancement of estrogen receptor transcriptional activity by the coactivator GRIP-1 highlights the role of activation function 2 in determining estrogen receptor pharmacology.

Norris JD et al.

The Journal of Biological Chemistry, 1998

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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."