Evidence map›Paper›PMID 38926258›Full record

ArticleClinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico2025

Clinical, pathological and gene expression profiling of estrogen receptor discordance in breast cancer.

Xi Wang, Shengnan Bao, Mengping Jiang, Xian Zou, Yongmei Yin

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Article in Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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1citing papers in PubMed
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1 · What the graph read from it

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Efficacy and safety of T-DXd in patients with HER2-positive and HER2-low metastatic breast cancer: a real-world study.Translational breast cancer research : a journal focusing on translational research in breast cancer · 2026
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5 · Who and what money

Authors and funding

5 authors.

Xi WangDepartment of Radiotherapy, Affiliated Hospital 2 of Nantong University (Nantong First People's Hospital), Nantong, 226300, Jiangsu, China.
Shengnan BaoDepartment of Oncology, Tumor Hospital Affiliated to Nantong University, Nantong, 226300, Jiangsu, China.
Mengping JiangDepartment of Radiotherapy, Affiliated Hospital 2 of Nantong University (Nantong First People's Hospital), Nantong, 226300, Jiangsu, China.
Xian ZouClinical Medicine, School of Medicine, Nantong University, Nantong, 226001, Jiangsu, China.
Yongmei YinDepartment of Oncology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, 210029, Jiangsu, China. ymyin@njmu.edu.cn.ORCID http://orcid.org/0000-0003-3335-369X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundBreast cancer (BC) is the world's largest tumor species in which hormone receptor-positive patients have relatively good prognosis. However, majority of patients will develop late resistance, one of the important factors is due to the loss of the original estrogen receptor (ER) expression.

methodsWe conducted this study in 115 patients with BC who experienced second biopsy at Jiangsu Province Hospital (JSPH) and divided patients into two subgroups ER + to - and ER + to + . First, clinicopathological characteristics between two groups were evaluated. Second, we explored candidate genes related to BC ER intratumor heterogeneity by applying next-generation sequencing (NGS) in 42 patients. Multi-omics integrative analysis of tumor transcriptomic, cancer-related pathway, diagnostic and prognostic value and immune profile were conducted. Besides, preliminary assay were also used to evaluate the correlation between KMT2C and ERα (ESR1) expression. The CCK-8, 5-Ethynyl-2'-deoxyuridine (EdU) assays, Transwell assays and the wound scratch tests were applied to explore the cellular interactions between KMT2C and BC.

resultsWe find the histological type (p = 0.008) and disease-free survival (DFS) (p = 0.004) were significantly different in two subgroups. In Cox survival analysis, metastasis (Hazard ratio (HR) > 1, p = 0.007) and neo-adjuvant (HR < 1, p < 0.001) are independent prognostic factors of DFS. Besides, by analyzing NGS results, we found four genes KMT2C, FGFR19, FGF1 and FGF4 were highly mutated genes in ER + to - subgroup. Furthermore, the gene KMT2C displayed significant diagnostic value and prognostic value in BC and pan-cancer. In addition, a positive correlation between KMT2C expression and immune infiltrating levels of T cell CD4 + , macrophage and neutrophil was found. In the end, Western blot and RT-qPCR assay were used and found KMT2C and ERα (ESR1) expressions are strongly positive correlated in mRNA and protein level. Inhibition of KMT2C significantly reduced proliferation, invasion, and migration of MCF7 cells.

conclusionPeople in two cohorts from JSPH presented different clinical characteristics and prognosis. The gene KMT2C may affect the progression of BC by regulating the molecular, epigenetic activity and immune infiltration. It may also serve as a novel prognostic biomarker for BC patients who underwent ER status converted from positive to negative.

Indexed as

Breast NeoplasmsEstrogen Receptor alphaReceptors, EstrogenAdultAgedBiomarkers, TumorFemaleGene Expression ProfilingHumansMiddle AgedPrognosisBiomarkers, TumorESR1 protein, humanEstrogen Receptor alphaReceptors, EstrogenEstrogen receptor discordanceMetastatic breast cancerNext-generation sequencingPrecision medicine

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.