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83 Results Found

  • Article
  • Open Access
25 Citations
7,961 Views
11 Pages

CDK4/6 Inhibitors Overcome Endocrine ESR1 Mutation-Related Resistance in Metastatic Breast Cancer Patients

  • Stefania Crucitta,
  • Martina Ruglioni,
  • Giulia Lorenzini,
  • Irene Bargagna and ,
  • Giovanna Irene Luculli,
  • Irene Albanese,
  • Diana Bilancio,
  • Francesca Patanè,
  • Andrea Fontana and
  • Marzia Del Re
  • + 6 authors+ 1 author

18 February 2023

ESR1 mutations contribute to endocrine resistance and occur in a high percentage of hormone-receptor-positive (HR+) metastatic breast cancer (mBC) cases. Cyclin-dependent kinase 4/6 inhibitors (CDK4/6i) changed the treatment landscape of HR+ mBC, as...

(This article belongs to the Special Issue Precision Medicine in Breast Cancer Treatment)
  • Article
  • Open Access
8 Citations
5,265 Views
14 Pages

30 August 2024

In patients with metastatic estrogen-receptor (ER)-positive HER2-negative breast cancer, the loss of ER expression and the mutation of ESR1—the gene encoding the ER receptor—are mechanisms for resistance to endocrine therapy. We aimed to...

(This article belongs to the Special Issue Breast Cancer Metastasis: Novel Insights into Molecular Mechanisms and Treatments)
  • Article
  • Open Access
17 Citations
4,881 Views
17 Pages

ESR1 NAPA Assay: Development and Analytical Validation of a Highly Sensitive and Specific Blood-Based Assay for the Detection of ESR1 Mutations in Liquid Biopsies

  • Dimitra Stergiopoulou,
  • Athina Markou,
  • Eleni Tzanikou,
  • Ioannis Ladas and ,
  • G. Mike Makrigiorgos,
  • Vassilis Georgoulias and
  • Evi Lianidou
  • + 2 authors+ 0 author

1 February 2021

A considerable number of estrogen receptor-positive breast cancer (ER+ BrCa) patients develop resistance to endocrine treatment. One of the most important resistance mechanisms is the presence of ESR1 mutations. We developed and analytically validate...

(This article belongs to the Special Issue Strategies for Isolation and Phenotypic, Genetic, and Functional Characterization of Circulating Tumor Cells)
  • Article
  • Open Access
7 Citations
3,449 Views
11 Pages

Development of a Detection System for ESR1 Mutations in Circulating Tumour DNA Using PNA-LNA-Mediated PCR Clamping

  • Yuki Kojima,
  • Emi Noguchi,
  • Tomomi Yoshino,
  • Shigehiro Yagishita and ,
  • Shu Yazaki,
  • Hitomi S. Okuma,
  • Tadaaki Nishikawa,
  • Maki Tanioka,
  • Kazuki Sudo and
  • Kan Yonemori
  • + 12 authors+ 7 authors

Although circulating tumour DNA (ctDNA)-based next-generation sequencing (NGS) is a less invasive method for assessing ESR1 mutations that are essential mechanisms of endocrine therapy resistance in patients with oestrogen receptor-positive breast ca...

(This article belongs to the Section Pathology and Molecular Diagnostics)
  • Article
  • Open Access
10 Citations
3,864 Views
11 Pages

Detection of ESR1 Mutations in Primary Tumors and Plasma Cell-Free DNA in High-Grade Serous Ovarian Carcinoma Patients

  • Dimitra Stergiopoulou,
  • Athina Markou,
  • Lydia Giannopoulou,
  • Paul Buderath and ,
  • Ioanna Balgkouranidou,
  • Nikolaos Xenidis,
  • Stylianos Kakolyris,
  • Sabine Kasimir-Bauer and
  • Evi Lianidou
  • + 4 authors+ 0 author

4 August 2022

ESR1 mutations have been recently associated with resistance to endocrine therapy in metastatic breast cancer and their detection has led to the development and current evaluation of novel, highly promising therapeutic strategies. In ovarian cancer t...

(This article belongs to the Special Issue Promising Biomarkers in Liquid Biopsy of Cancer)
  • Review
  • Open Access
70 Citations
8,731 Views
15 Pages

28 November 2019

Mutations in the hotspot ligand-binding domain of the estrogen receptor (ER) gene ESR1 have recently been recognized as mechanisms of endocrine resistance in endocrine receptor-positive metastatic breast cancer (MBC). Accumulating data suggest these...

(This article belongs to the Special Issue Estrogen Receptor (ER) Signalling Pathway in Cancers)
  • Article
  • Open Access
8 Citations
3,137 Views
9 Pages

Detection of Ultra-Rare ESR1 Mutations in Primary Breast Cancer Using LNA-Clamp ddPCR

  • Yoko Hashimoto,
  • Nanae Masunaga,
  • Naofumi Kagara,
  • Kaori Abe and ,
  • Tetsuhiro Yoshinami,
  • Masami Tsukabe,
  • Yoshiaki Sota,
  • Tomohiro Miyake,
  • Tomonori Tanei and
  • Kenzo Shimazu
  • + 6 authors+ 1 author

6 May 2023

ESR1 mutations in breast cancer are one of the mechanisms of resistance to aromatase inhibitors. These mutations are common in metastatic breast cancer; however, these are rare in primary breast cancer. However, these data have been analyzed mainly i...

  • Article
  • Open Access
9 Citations
7,444 Views
14 Pages

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

  • Srushti Borkar,
  • Fenja Markus,
  • Agnes Oetting,
  • Stefanie Schmidt and ,
  • Christine Vössing,
  • David Horst,
  • Markus Möbs,
  • Elena I. Braicu,
  • Frank Griesinger and
  • Claudia Vollbrecht
  • + 9 authors+ 4 authors

9 April 2025

Background: ESR1 mutations are biomarkers in breast cancer patients who develop metastatic disease after endocrine therapy (ET). Recently, the Food and Drug Administration (FDA) and European Medicines Agency (EMA) have approved Elacestrant, a selecti...

(This article belongs to the Section Cancer Biomarkers)
  • Article
  • Open Access
1,006 Views
15 Pages

A Real-World Study on the Effectiveness and Safety of Elacestrant in Patients with ESR1-Mutated Metastatic Breast Cancer Progressing After CDK4/6 Inhibitors and Endocrine Therapy

  • Martina Greco,
  • Vittorio Gebbia,
  • Rossana Berardi,
  • Antonella Usset and ,
  • Giuseppina Ricciardi,
  • Nicla La Verde,
  • Maria Vita Sanò,
  • Federica Martorana,
  • Nicoletta Staropoli and
  • Maria Rosaria Valerio
  • + 12 authors+ 7 authors

24 June 2026

Background/Objectives: Advanced hormone receptor-positive (HR+), epidermal growth factor 2-negative (HER2−) breast carcinoma (BC) patients receive frontline therapy with cyclin-dependent tyrosine kinase 4/6 inhibitors + endocrine therapy (ET)....

(This article belongs to the Section Cancer Metastasis)
  • Article
  • Open Access
6 Citations
2,361 Views
15 Pages

The Combined Assessment of CTC and ESR1 Status in Liquid Biopsy Samples Enhances the Clinical Value of Prediction in Metastatic Breast Cancer

  • Malgorzata Szostakowska-Rodzos,
  • Ewa A. Grzybowska,
  • Izabella Mysliwy,
  • Renata Zub and ,
  • Agnieszka Jagiello-Gruszfeld,
  • Maryna Rubach,
  • Aleksandra Konieczna and
  • Anna Fabisiewicz
  • + 3 authors+ 0 author

26 February 2025

Monitoring of metastatic breast cancer (mBC) is an important issue in the clinical management of patients. Liquid biopsy has become a non-invasive method for detecting and monitoring cancer in body fluids. The presence of circulating tumor cells (CTC...

(This article belongs to the Section Molecular Oncology)
  • Review
  • Open Access
1 Citations
1,845 Views
26 Pages

Post-CDK4/6 Inhibitor Therapeutic Approaches in Hormone Receptor-Positive, HER2-Negative Metastatic Breast Cancer: Current Evidence and Emerging Strategies—A Narrative Review

  • Humaid O. Al-Shamsi,
  • Nadia Abdelwahed,
  • Siddig Ibrahim Abdelwahab,
  • Mawada Hussein and ,
  • Amin Abyad,
  • Saeed Rafii,
  • Hassan Jaafar,
  • Sonia Otsmane,
  • Dima Abdul Jabbar and
  • Kefah Mokbel
  • + 9 authors+ 4 authors

Background: Therapeutic resistance following cyclin-dependent kinase 4/6 inhibitor (CDK4/6i) plus endocrine therapy (ET) represents a key unmet need in hormone receptor-positive, human epidermal growth factor receptor 2-negative (HR+/HER2−) met...

(This article belongs to the Special Issue Precision Diagnosis and Management of Breast Cancer)
  • Review
  • Open Access
66 Citations
13,457 Views
15 Pages

Metastatic ER+ Breast Cancer: Mechanisms of Resistance and Future Therapeutic Approaches

  • Farah Raheem,
  • Suganya Arunachalam Karikalan,
  • Felipe Batalini,
  • Aya El Masry and
  • Lida Mina

11 November 2023

Endocrine therapy is the main treatment for hormone receptor-positive (HR+) breast cancer. However, advanced tumors develop resistance to endocrine therapy, rendering it ineffective as the disease progresses. There are several molecular mechanisms of...

(This article belongs to the Section Molecular Oncology)
  • Article
  • Open Access
156 Views
15 Pages

Real-World Implementation of Molecular Testing and Biomarker-Guided Therapies in HR+/HER2− Metastatic Breast Cancer

  • Christine Deutschmann,
  • Matthias Filipovic,
  • Dagmar Baha,
  • Leonhard Müllauer and ,
  • Zsuzsanna Bago-Horvath,
  • Daphne Gschwantler-Kaulich,
  • Georg Pfeiler,
  • Carmen Leser and
  • Christian F. Singer
  • + 4 authors+ 0 author

28 October 2026

Background/Objectives: The introduction of biomarker-guided therapies, including PI3K, AKT and PARP inhibitors as well as Selective Estrogen Receptor Degraders (SERDs), has expanded treatment options and delayed the need for chemotherapy in hormone r...

(This article belongs to the Special Issue Molecular Signatures of Therapy: Biomarkers Predicting Response and Relapse in Cancer)
  • Review
  • Open Access
7 Citations
4,394 Views
29 Pages

Mutations in hormone receptors significantly influence infertility and the outcomes of assisted reproductive technologies (ART). This review explores the functional interplay among mutations in FSHR, LHCGR, AR, ESR1, and ESR2 hormone receptors and th...

  • Review
  • Open Access
16 Citations
7,021 Views
28 Pages

20 November 2020

Approximately 70% of breast cancers, the leading cause of cancer-related mortality worldwide, are positive for the estrogen receptor (ER). Treatment of patients with luminal subtypes is mainly based on endocrine therapy. However, ER positivity is red...

(This article belongs to the Special Issue Novel Insights on the Molecular Bases of Hormone-Responsive Breast Cancer Biology)
  • Review
  • Open Access
16 Citations
9,901 Views
21 Pages

ESR1 Gene Mutations and Liquid Biopsy in ER-Positive Breast Cancers: A Small Step Forward, a Giant Leap for Personalization of Endocrine Therapy?

  • Margaux Betz,
  • Vincent Massard,
  • Pauline Gilson,
  • Andréa Witz and ,
  • Julie Dardare,
  • Alexandre Harlé and
  • Jean-Louis Merlin
  • + 2 authors+ 0 author

27 October 2023

The predominant forms of breast cancer (BC) are hormone receptor-positive (HR+) tumors characterized by the expression of estrogen receptors (ERs) and/or progesterone receptors (PRs). Patients with HR+ tumors can benefit from endocrine therapy (ET)....

(This article belongs to the Special Issue 2nd Edition: Estrogen Receptor-Positive (ER+) Breast Cancers)
  • Case Report
  • Open Access
608 Views
8 Pages

ESR1 Y537S Detected in a Brain Metastasis but Not in Plasma ctDNA in HR+/HER2-Low Metastatic Breast Cancer: A Case Report

  • Aemélia Nègre,
  • Lorène Seguin,
  • Arthur Géraud Cremieux,
  • Frederic Viret and ,
  • Agnès Tallet,
  • Cornel Popovici,
  • Anthony Gonçalves and
  • Alexandre de Nonneville
  • + 3 authors+ 0 author

Brain metastases in hormone receptor-positive metastatic breast cancer remain incompletely characterized at the molecular level. We report isolated central nervous system progression in a 60-year-old woman with hormone receptor-positive breast cancer...

(This article belongs to the Section Breast Cancer)
  • Article
  • Open Access
11 Citations
4,860 Views
13 Pages

30 September 2021

The development of above-ground lateral organs is initiated at the peripheral zone of the shoot apical meristem (SAM). The coordination of cell fate determination and the maintenance of stem cells are achieved through a complex regulatory network com...

(This article belongs to the Special Issue Meristem and Stem Cells and Stem Cell Regulation in Plants)
  • Systematic Review
  • Open Access
895 Views
16 Pages

26 June 2026

Background: Several novel oral estrogen receptor (ER) degraders have been shown to modestly improve progression-free survival (PFS) compared to standard endocrine therapy (ET) in patients carrying ESR1 mutations. However, whether overall survival (OS...

(This article belongs to the Section Systematic Review or Meta-Analysis in Cancer Research)
  • Review
  • Open Access
32 Citations
7,600 Views
23 Pages

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

  • Sarah A. Jeffreys,
  • Branka Powter,
  • Bavanthi Balakrishnar,
  • Kelly Mok and ,
  • Patsy Soon,
  • André Franken,
  • Hans Neubauer,
  • Paul de Souza and
  • Therese M. Becker
  • + 4 authors+ 0 author

11 September 2020

Therapy of hormone receptor positive breast cancer (BCa) generally targets estrogen receptor (ER) function and signaling by reducing estrogen production or by blocking its interaction with the ER. Despite good long-term responses, resistance to treat...

  • Article
  • Open Access
10 Citations
3,637 Views
16 Pages

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

  • Ana Martínez-Rodríguez,
  • Jesús Fuentes-Antrás,
  • Víctor Lorca,
  • Alfonso López de Sá and ,
  • Pedro Pérez-Segura,
  • Fernando Moreno,
  • Jose Angel García-Sáenz and
  • Vanesa García-Barberán
  • + 3 authors+ 0 author

4 December 2024

Standard treatments in hormone receptor-positive (HR+)/HER2-metastatic breast cancer (mBC) typically involve endocrine therapy (ET) combined with CDK4/6 inhibitors, yet resistance to ET remains a persistent challenge in advanced cases. A deeper knowl...

(This article belongs to the Special Issue Breast Cancer, Metastatic Breast Cancer, Therapeutic Approaches, 2nd Edition)
  • Article
  • Open Access
6 Citations
3,659 Views
14 Pages

Genomic Alterations Associated with Estrogen Receptor Pathway Activity in Metastatic Breast Cancer Have a Differential Impact on Downstream ER Signaling

  • Lindsay Angus,
  • Marcel Smid,
  • Saskia M. Wilting,
  • Manouk K. Bos and ,
  • Neeltje Steeghs,
  • Inge R. H. M. Konings,
  • Vivianne C. G. Tjan-Heijnen,
  • Johanna M. G. H. van Riel,
  • Agnes J. van de Wouw and
  • John W. M. Martens
  • + 10 authors+ 5 authors

4 September 2023

Mutations in the estrogen receptor gene (ESR1), its transcriptional regulators, and the mitogen-activated protein kinase (MAPK) pathway are enriched in patients with endocrine-resistant metastatic breast cancer (MBC). Here, we integrated whole genome...

(This article belongs to the Special Issue Estrogens and Estrogen Receptor Modulators in Cancer Research and Therapy)
  • Article
  • Open Access
10 Citations
3,710 Views
16 Pages

Polyamine levels decrease with menopause; however, little is known about the mechanisms regulated by menopause. In this study, we found that among the genes involved in the polyamine pathway, polyamine oxidase (PAOX) mRNA levels were the most signifi...

(This article belongs to the Section Molecular Endocrinology and Metabolism)
  • Article
  • Open Access
1 Citations
1,859 Views
15 Pages

Hemophagocytic Lymphohistiocytosis Gene Variants in Severe COVID-19 Cytokine Storm Syndrome

  • Abhishek Kamath,
  • Mingce Zhang,
  • Devin M. Absher,
  • Lesley E. Jackson and ,
  • Walter Winn Chatham and
  • Randy Q. Cron
  • + 1 author+ 0 author

8 August 2025

Severe COVID-19 infection resulting in hospitalization shares features with cytokine storm syndromes (CSSs) such as hemophagocytic lymphohistiocytosis (HLH). Various published criteria were explored to define CSS among patients (n = 32) enrolled in a...

(This article belongs to the Section Coronaviruses)
  • Article
  • Open Access
1,984 Views
16 Pages

24 March 2025

Background: Fibroblast growth factor (FGF) signaling plays a crucial role in several cellular functions in cancer cells. Tasurgratinib, formerly known as E7090, is an orally available FGF receptor (FGFR)1–3 selective inhibitor. Here, we present...

(This article belongs to the Section Cancer Drug Development)
  • Article
  • Open Access
4 Citations
4,123 Views
11 Pages

Clinical and Genetic Characteristics of Early and Advanced Gastric Cancer

  • Gi Won Ha,
  • Hong Pil Hwang,
  • Yong Gon Cho and
  • Joonhong Park

1 February 2024

Gastric cancer (GC) persists as the fourth most prevalent cause of global cancer-related mortality, presenting a challenge due to the scarcity of available therapeutic strategies. Precision medicine is crucial not only in the treatment but also in th...

(This article belongs to the Special Issue Advances in Molecular Pathogenesis Regulation in Cancer, 2nd Edition)
  • Article
  • Open Access
13 Citations
8,042 Views
17 Pages

Genetic and Epigenetic Regulation of MEFV Gene and Their Impact on Clinical Outcome in Auto-Inflammatory Familial Mediterranean Fever Patients

  • May E. Zekry,
  • Al-Aliaa M. Sallam,
  • Sherihan G. AbdelHamid,
  • Waheba A. Zarouk and ,
  • Hala T. El-Bassyouni and
  • Hala O. El-Mesallamy
  • + 1 author+ 0 author

Epigenetic modifications play a pivotal role in autoimmune/inflammatory disorders and could establish a bridge between personalized medicine and disease epidemiological contexts. We sought to investigate the role of epigenetic modifications beside ge...

(This article belongs to the Special Issue Complex Molecular Mechanism of Monogenic Diseases)
  • Article
  • Open Access
528 Views
17 Pages

23 August 2026

Background/Objectives: Interleukin-6 is a key proinflammatory cytokine involved in the pathophysiology of Familial Mediterranean Fever (FMF). This study aimed to evaluate interleukin-6 levels and the interleukin-6 rs1800795 variant in pediatric FMF p...

(This article belongs to the Section Clinical Laboratory Medicine)
  • Article
  • Open Access
7 Citations
11,468 Views
14 Pages

18 February 2014

A mathematical model of electroslag remelting (ESR) process is established based on its technical features and dynamic characteristics. A new multivariable self-tuning proportional-integral-derivative (PID) controller tuned optimally by an improved p...

  • Review
  • Open Access
118 Citations
20,791 Views
21 Pages

Oral Selective Estrogen Receptor Degraders (SERDs) as a Novel Breast Cancer Therapy: Present and Future from a Clinical Perspective

  • Cristina Hernando,
  • Belén Ortega-Morillo,
  • Marta Tapia,
  • Santiago Moragón and ,
  • María Teresa Martínez,
  • Pilar Eroles,
  • Iris Garrido-Cano,
  • Anna Adam-Artigues,
  • Ana Lluch and
  • Juan Miguel Cejalvo
  • + 6 authors+ 1 author

Estrogen receptor-positive (ER+) is the most common subtype of breast cancer. Endocrine therapy is the fundamental treatment against this entity, by directly or indirectly modifying estrogen production. Recent advances in novel compounds, such as cyc...

(This article belongs to the Special Issue Novel Insights on the Molecular Bases of Hormone-Responsive Breast Cancer Biology)
  • Article
  • Open Access
71 Citations
10,367 Views
11 Pages

Detection and Characterization of Circulating Tumor Associated Cells in Metastatic Breast Cancer

  • Zhaomei Mu,
  • Naoual Benali-Furet,
  • Georges Uzan,
  • Anaëlle Znaty and ,
  • Zhong Ye,
  • Carmela Paolillo,
  • Chun Wang,
  • Laura Austin,
  • Giovanna Rossi and
  • Massimo Cristofanilli
  • + 7 authors+ 2 authors

30 September 2016

The availability of blood-based diagnostic testing using a non-invasive technique holds promise for real-time monitoring of disease progression and treatment selection. Circulating tumor cells (CTCs) have been used as a prognostic biomarker for the m...

(This article belongs to the Special Issue Circulating Tumor Cells)
  • Review
  • Open Access
89 Citations
14,535 Views
20 Pages

Nexus between PI3K/AKT and Estrogen Receptor Signaling in Breast Cancer

  • Aditi S. Khatpe,
  • Adedeji K. Adebayo,
  • Christopher A. Herodotou,
  • Brijesh Kumar and
  • Harikrishna Nakshatri

20 January 2021

Signaling from estrogen receptor alpha (ERα) and its ligand estradiol (E2) is critical for growth of ≈70% of breast cancers. Therefore, several drugs that inhibit ERα functions have been in clinical use for decades and new classes of anti-estrogens a...

(This article belongs to the Special Issue Hormone-Associated Cancers)
  • Article
  • Open Access
7 Citations
5,353 Views
7 Pages

Alpelisib Efficacy in Hormone Receptor-Positive HER2-Negative PIK3CA-Mutant Advanced Breast Cancer Post-Everolimus Treatment

  • Ari Raphael,
  • Mali Salmon-Divon,
  • Jessica Epstein,
  • Tamar Zahavi and ,
  • Amir Sonnenblick and
  • Shlomit S. Shachar
  • + 1 author+ 0 author

29 September 2022

This real-world cohort analysis assessed the efficacy of alpelisib and endocrine treatment (ET) combinations in a post-everolimus setting. Thirteen women who started alpelisib and ET at standard doses between 2018 and 2022 for advanced breast cancer...

(This article belongs to the Special Issue Molecular Therapeutics of Breast Cancer)
  • Article
  • Open Access
17 Citations
5,094 Views
20 Pages

Real-World Use of Highly Sensitive Liquid Biopsy Monitoring in Metastatic Breast Cancer Patients Treated with Endocrine Agents after Exposure to Aromatase Inhibitors

  • Jesús Fuentes-Antrás,
  • Ana Martínez-Rodríguez,
  • Kissy Guevara-Hoyer,
  • Igor López-Cade and ,
  • Víctor Lorca,
  • Alejandro Pascual,
  • Alicia de Luna,
  • Carmen Ramírez-Ruda,
  • Jennifer Swindell and
  • José Ángel García-Sáenz
  • + 13 authors+ 8 authors

Endocrine-resistant, hormone receptor-positive, and HER2-negative (HR+/HER2-) metastatic breast cancer (mBC) is largely governed by acquired mutations in the estrogen receptor, which promote ligand-independent activation, and by truncal alterations i...

(This article belongs to the Special Issue Liquid Biopsy in Cancers)
  • Review
  • Open Access
27 Citations
7,776 Views
10 Pages

Osimertinib has become a standard of care in the first-line treatment of advanced-stage non-small-cell lung cancer (NSCLC) harboring exon 19 and 21 activating mutations in the EGFR gene. Nevertheless, the 18.9-month median progression-free survival e...

(This article belongs to the Special Issue Protein Kinase Inhibitors for Targeted Anticancer Therapies)
  • Review
  • Open Access
2 Citations
3,997 Views
34 Pages

26 December 2025

Background: Genetic studies have found that a germline BRCA1 gene mutation is the origin of highly increased cancer risk. Clinical studies have suggested that increased cancer risk in type-2 diabetes may be attributed to unhealthy lifestyle factors a...

(This article belongs to the Special Issue Lifestyle Choices and Endocrine Dysfunction on Cancer Onset and Risk)
  • Review
  • Open Access
52 Citations
15,203 Views
22 Pages

Oral SERD, a Novel Endocrine Therapy for Estrogen Receptor-Positive Breast Cancer

  • Niraj Neupane,
  • Sawyer Bawek,
  • Sayuri Gurusinghe,
  • Elham Moases Ghaffary and ,
  • Omid Mirmosayyeb,
  • Sangharsha Thapa,
  • Carla Falkson,
  • Ruth O’Regan and
  • Ajay Dhakal
  • + 4 authors+ 0 author

31 January 2024

Breast cancer is the most common cancer among women worldwide, and estrogen receptor-positive (ER+) breast cancer accounts for a significant proportion of cases. While various treatments are available, endocrine therapies are often the first-line tre...

(This article belongs to the Collection Breast Cancer: From Pathophysiology to Prevention and Treatment)
  • Feature Paper
  • Article
  • Open Access
6 Citations
5,031 Views
11 Pages

A Multiplex PCR-Based Next Generation Sequencing-Panel to Identify Mutations for Targeted Therapy in Breast Cancer Circulating Tumor Cells

  • André Franken,
  • Mahdi Rivandi,
  • Liwen Yang,
  • Bernadette Jäger and ,
  • Natalia Krawczyk,
  • Ellen Honisch,
  • Dieter Niederacher,
  • Tanja Fehm and
  • Hans Neubauer
  • + 4 authors+ 0 author

13 May 2020

Targeted therapy has become the preferred approach to treat most cancers, including metastatic breast cancer. Using liquid biopsies, which can act as a dynamic diagnostic tool, is an appealing concept to identify effective therapies. In order to iden...

(This article belongs to the Special Issue Circulating Biomarkers)
  • Review
  • Open Access
40 Citations
15,625 Views
27 Pages

5 December 2022

Breast cancer is the most common cancer affecting women worldwide. It is a malignant and heterogeneous disease with distinct molecular subtypes, which has prognostic and predictive implications. Circulating tumor DNA (ctDNA), cell-free fragmented tum...

(This article belongs to the Special Issue Cell-Free Nucleic Acids—New Insights into Physico-Chemical Properties, Analytical Considerations, and Clinical Applications)
  • Systematic Review
  • Open Access
1 Citations
3,294 Views
15 Pages

Continuing Cyclin-Dependent Kinase 4/6 Inhibitors Beyond Progression in Advanced Breast Cancer: A Meta-Analysis

  • Neha Pathak,
  • Sudhir Kumar,
  • Diego Malon Gimenez,
  • Massimo Di Iorio and ,
  • Jacqueline Savill,
  • Yael Berner-Wygoda,
  • Meredith Li,
  • Consolacion Molto Valiente,
  • Danielle Cuthbert and
  • Abhenil Mittal
  • + 9 authors+ 4 authors

9 May 2025

Background: The use of cyclin-dependent kinase 4/6 inhibitors (CDK 4/6i) with endocrine therapy (ET) is a first-line standard treatment for hormone receptor-positive (ER+) Human Epidermal Growth factor Receptor-2-negative (HER2-) advanced breast canc...

(This article belongs to the Section Clinical Research in Cancer)
  • Article
  • Open Access
6 Citations
3,828 Views
13 Pages

Integrated Molecular Characterization of HER2-Low Breast Cancer Using Next Generation Sequencing (NGS)

  • Jean-Louis Merlin,
  • Marie Husson,
  • Nassim Sahki,
  • Pauline Gilson and ,
  • Vincent Massard,
  • Alexandre Harlé and
  • Agnès Leroux
  • + 2 authors+ 0 author

28 November 2023

Based on immunohistochemistry (IHC) and in situ hybridization (ISH), HER2-low breast cancers (BC) subtype—defined as IHC1+ or IHC2+/ISH− tumors—emerged and represent more than half of all BC. We evaluated the performance of NGS for...

(This article belongs to the Section Cancer Biology and Oncology)
  • Article
  • Open Access
6 Citations
6,085 Views
19 Pages

Exomes of Ductal Luminal Breast Cancer Patients from Southwest Colombia: Gene Mutational Profile and Related Expression Alterations

  • Carolina Cortes-Urrea,
  • Fernando Bueno-Gutiérrez,
  • Melissa Solarte,
  • Miguel Guevara-Burbano and ,
  • Fabian Tobar-Tosse,
  • Patricia E. Vélez-Varela,
  • Juan Carlos Bonilla,
  • Guillermo Barreto,
  • Jaime Velasco-Medina and
  • Javier De Las Rivas
  • + 6 authors+ 1 author

30 April 2020

Cancer is one of the leading causes of mortality worldwide. Breast cancer is the most frequent cancer in women, and in recent years it has become a serious public health problem in Colombia. The development of large-scale omic techniques allows simul...

(This article belongs to the Special Issue Bioinformatics and Precision Computational Biology: Selected Papers from the X International Conference on Bioinformatics #SoIBio+10)
  • Article
  • Open Access
13 Citations
4,465 Views
18 Pages

Genomics of Breast Cancer Brain Metastases: A Meta-Analysis and Therapeutic Implications

  • Thuy Thi Nguyen,
  • Diaddin Hamdan,
  • Eurydice Angeli,
  • Jean-Paul Feugeas and ,
  • Quang Van Le,
  • Frédéric Pamoukdjian and
  • Guilhem Bousquet
  • + 2 authors+ 0 author

12 March 2023

Breast cancer brain metastases are a challenging daily practice, and the biological link between gene mutations and metastatic spread to the brain remains to be determined. Here, we performed a meta-analysis on genomic data obtained from primary tumo...

(This article belongs to the Section Molecular Cancer Biology)
  • Article
  • Open Access
13 Citations
5,512 Views
14 Pages

Biochemical Characterization and Molecular Determination of Estrogen Receptor-α (ESR1 PvuII-rs2234693 T>C) and MiRNA-146a (rs2910164 C>G) Polymorphic Gene Variations and Their Association with the Risk of Polycystic Ovary Syndrome

  • Rashid Mir,
  • Faris J. Tayeb,
  • Jameel Barnawi,
  • Mohammed M. Jalal and ,
  • Nizar H. Saeedi,
  • Abdullah Hamadi,
  • Malik A. Altayar,
  • Sanad E. Alshammari,
  • Nabil Mtiraoui and
  • Mohammad Fahad Ullah
  • + 7 authors+ 2 authors

Polycystic ovary syndrome (PCOS) is regarded as one of the most frequently encountered endocrine disorders and affects millions of young women worldwide, resulting in an array of complex metabolic alterations and reproductive failure. PCOS is a risk...

(This article belongs to the Special Issue Women Health and Gynecology)
  • Article
  • Open Access
2 Citations
1,754 Views
15 Pages

Integration of Next Generation Sequencing Data to Inform Survival Prediction of Patients with Spine Metastasis

  • Alexandra Giantini-Larsen,
  • Alexander D. Ramos,
  • Axel Martin,
  • Katherine S. Panageas and ,
  • Caroline E. Kostrzewa,
  • Zaki Abou-Mrad,
  • Adam Schmitt,
  • Jacqueline F. Bromberg,
  • Anton Safonov and
  • Ori Barzilai
  • + 8 authors+ 3 authors

2 July 2025

Background/Objectives: Spinal metastatic disease is a life-altering problem for individuals with cancer. Prognostication is key for tailored treatment of spinal metastases. This manuscript provides a comprehensive overview of the genomic profiles of...

(This article belongs to the Section Cancer Therapy)
  • Article
  • Open Access
56 Citations
1,332 Views
5 Pages

Atherogenic index as a predictor of atherosclerosis in subjects with familial Mediterranean fever

  • Akif Acay,
  • Memnune Sena Ulu,
  • Ahmet Ahsen,
  • Gulay Ozkececi and ,
  • Kasim Demir,
  • Ufuk Ozuguz,
  • Seref Yuksel and
  • Gursel Acarturk
  • + 3 authors+ 0 author

28 November 2014

Background and objective: Numerous inflammatory and innate immune pathways are involved in atherogenesis. We aimed to investigate the atherogenic index and other lipid parameters in individuals with familial Mediterranean fever (FMF), as a predictor...

  • Review
  • Open Access
10 Citations
4,298 Views
17 Pages

26 November 2024

Estrogen receptor α (ERα) drives two out of three breast cancers and therefore ERα is a major therapeutic target for ER-positive breast cancer patients. Drugs that inhibit ERα activity or block estrogen synthesis in the body a...

(This article belongs to the Section Cancer Biology and Oncology)
  • Article
  • Open Access
14 Citations
5,187 Views
16 Pages

Benzothiophenone Derivatives Targeting Mutant Forms of Estrogen Receptor-α in Hormone-Resistant Breast Cancers

  • Kriti Singh,
  • Ravi S. N. Munuganti,
  • Nada Lallous,
  • Kush Dalal and ,
  • Ji Soo Yoon,
  • Aishwariya Sharma,
  • Takeshi Yamazaki,
  • Artem Cherkasov and
  • Paul S. Rennie
  • + 4 authors+ 0 author

15 February 2018

Estrogen receptor-α positive (ERα+) breast cancers represent 75% of all invasive breast cancer cases, while de novo or acquired resistance to ER-directed therapy is also on the rise. Numerous factors contribute to this phenomenon including the recent...

(This article belongs to the Special Issue Hormones-Dependent Cancers: New Aspects on Biochemistry and Molecular Pathology)
  • Review
  • Open Access
12 Citations
4,660 Views
12 Pages

30 August 2022

The past decade was marked by several important studies deciphering the molecular landscape of metastatic breast cancer. Although the initial goal of these studies was to find driver oncogenic events to explain cancer progression and metastatic sprea...

(This article belongs to the Collection The Molecular Predictive and Prognostic Biomarkers in Breast Cancer)
  • Review
  • Open Access
374 Citations
41,590 Views
19 Pages

A Basic Review on Estrogen Receptor Signaling Pathways in Breast Cancer

  • Léa Clusan,
  • François Ferrière,
  • Gilles Flouriot and
  • Farzad Pakdel

Breast cancer is the most common cancer and the deadliest among women worldwide. Estrogen signaling is closely associated with hormone-dependent breast cancer (estrogen and progesterone receptor positive), which accounts for two-thirds of tumors. Hor...

(This article belongs to the Special Issue Hormone Receptors and Signaling in Breast Cancer)

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