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Breast Cancer: New Diagnostic and Therapeutic Approaches

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A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Cancer Biology and Oncology".

Deadline for manuscript submissions: 31 October 2025 | Viewed by 9094

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Special Issue Editors

Dr. Erika Bandini

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Guest Editor

Biosciences Laboratory, IRCCS Istituto Romagnolo per lo Studio dei Tumori (IRST) “Dino Amadori”, Meldola, Italy
Interests: ncRNAs; microRNAs; breast cancer; extracellular vesicles; tumor microenvironment; liquid biopsy

Dr. Tania Rossi

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Guest Editor

IRCCS Istituto Scientifico per la Cura dei Tumori “Dino Amadori” IRST, Meldola, Italy
Interests: molecular characterization; circulating tumor cells; new methods development

Dr. Sara Bravaccini

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Guest Editor

Faculty of Medicine and Surgery, "Kore" University of Enna, 94100 Enna, Italy
Interests: Breast cancer; Androgen receptor; aging and cancer; Inflammaging

Special Issue Information

Dear Colleagues,

As the most diagnosed form of cancer worldwide, breast cancer (BC) represents a major health issue. Despite the advances in breast oncology research, BC remains a highly lethal disease and ranks as the fifth cause of cancer-related deaths. In recent decades, researchers have intensively exploited next-generation sequencing (NGS) approaches to discover new actionable targets of breast tumor specimens, leading to the development of new therapy regimens (i.e., CDK4/6 inhibitors, PIK3CA inhibitors, etc.). More recently, novel approaches have been developed to improve cancer molecular characterization at epigenetic, transcriptomic, genetic and genomic levels. Moreover, the investigation of analytes retrievable in the peripheral blood (i.e., circulating tumor cells (CTCs), circulating tumor DNA (ctDNA), extracellular vesicles (EVs), etc.) has demonstrated an unprecedented potential to obtain further information concerning the core tumor, and monitor treatment response and minimal residual disease. The topics of interest for this Special Issue can include, but are not limited to, the following:

Prognostic and predictive biomarkers of breast cancer;
Novel approaches to improve breast cancer characterization;
Liquid biopsy in breast cancer;
Genetic alterations in breast cancer

Dr. Erika Bandini
Dr. Tania Rossi
Dr. Sara Bravaccini
Guest Editors

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Keywords

breast cancer
breast oncology
circulating tumor cells

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Published Papers (7 papers)

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Research

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9 pages, 1695 KiB

Open AccessArticle

Advancing Breast Cancer Diagnosis: Optimization of Raman Spectroscopy for Urine-Based Early Detection

by David Andras, Ramona G. Cozan, Delia E. Muresan, Vlad Moisoiu, George Crisan, Vasile Bintintan, George C. Dindelegan, Nicolae Leopold and Stefania D. Iancu

Biomedicines 2025, 13(2), 505; https://doi.org/10.3390/biomedicines13020505 - 18 Feb 2025

Viewed by 753

Abstract

Background: Surface-enhanced Raman spectroscopy (SERS) analysis of urine is a promising liquid biopsy technique for cancer detection. However, its clinical translation is hindered by two major challenges that impact classification efficacy. First, the SERS signal of urine is confounded by fluctuations induced by physiological differences in urine composition such as pH and dilution. Second, the molecular origin of the SERS signal of urine is incompletely understood, limiting the interpretability of machine learning classifiers in terms of specific biochemical markers. Methods: In this pilot study, we analyzed urine samples from breast cancer patients (n = 18) and control subjects (n = 10) at three pH levels (5, 7, and 9). Additionally, we analyzed simulated urine mixtures consisting of uric acid, hypoxanthine, xanthine, and creatinine in physiological concentrations to explain the variation in the SERS spectra at different pH values. Results: Urine at pH 9 yielded the most detailed spectral features. The SERS spectral pattern under alkaline pH reflected greater contributions from hypoxanthine, uric acid, and creatinine, while xanthine contributions diminished due to competitive interactions at the SERS substrate surface. Normalizing SERS signals to the creatinine band at 1420 cm⁻¹ effectively mitigated the confounding effects of urine dilution. Conclusions: Optimizing the pH to 9 and normalizing to creatinine significantly enhances the interpretability and accuracy of SERS-based urine analysis for cancer detection. These findings offer important theoretical and practical advancements for the development of SERS-based liquid biopsy tools for cancer detection. Full article

(This article belongs to the Special Issue Breast Cancer: New Diagnostic and Therapeutic Approaches)

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12 pages, 2408 KiB

Open AccessArticle

Tumor Suppressor miR-27a-5p and Its Significance for Breast Cancer

by Paola Parrella, Raffaela Barbano, Katharina Jonas, Andrea Fontana, Serena Barile, Michelina Rendina, Antonio lo Mele, Giuseppina Prencipe, Luigi Ciuffreda, Maria Grazia Morritti, Vanna Maria Valori, Paolo Graziano, Evaristo Maiello, Massimiliano Copetti, Martin Pichler and Barbara Pasculli

Biomedicines 2024, 12(11), 2625; https://doi.org/10.3390/biomedicines12112625 - 17 Nov 2024

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Abstract

Background: MicroRNAs are well established as master regulators of carcinogenesis and potential biomarkers in breast cancer (BC). In a preliminary effort, we found miR-27a-5p to be significantly downregulated in experimentally derived mammospheres and BC patients from The Cancer Genome Atlas Breast Invasive Carcinoma (TCGA-BRCA) dataset. Objectives. Herein, we sought to investigate the putative involvement of miR-27a-5p in promoting a migratory phenotype of breast cancer cells, and establish whether miR-27a-5p is associated with patient clinicopathological characteristics. Methods: miR-27a-5p capability of inducing a metastasis-prone cell phenotype was analyzed in SUM159 and MDA-MB-231, both representing the triple negative BC subtype. miR-27a-5p expression profile was carried out in a cohort of 232 BC patients and normal breast tissues (NBTs) by RT-qPCR. Results: Transient miR-27a-5p inhibition did not affect cell proliferation but led to a significant increase of cell migration in knocked-down compared to control cells. Following quantification in the patient cohort, miR-27a-5p was found higher in NBTs (Median 2.28, IQR 1.50–5.40) and pre-invasive breast lesions (Median 3.32, IQR 1.68–4.32) compared to tumors. In particular, miR-27a-5p was less expressed in patients with synchronous (Median 1.03, IQR 0.83–1.58) or metachronous (Median 1.83, IQR 1.29–3.17) metastases than in patients free from metastases after a 5-year follow-up (Median 2.17, IQR 1.19–3.64), suggesting that miR-27a-5p expression is negatively correlated with breast pathology evolution (R = −0.13, p = 0.038). However, time-to-event analysis did not highlight significant associations with patient outcome in either our internal cohort or TCGA-BRCA dataset. Conclusions: Our study suggests a potential role of miR-27a-5p as tumor suppressor miRNA in breast cancer. Further investigations may help define its biomarker potential in each breast cancer subtype, and identify other molecular partners as targets for new interventions. Full article

(This article belongs to the Special Issue Breast Cancer: New Diagnostic and Therapeutic Approaches)

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13 pages, 1100 KiB

Open AccessArticle

Non-Palpable Breast Cancer: A Targeting Challenge–Comparison of Radio-Guided vs. Wire-Guided Localization Techniques

by András Drozgyik, Dániel Kollár, Levente Dankházi, István Á. Harmati, Krisztina Szalay and Tamás F. Molnár

Biomedicines 2024, 12(11), 2466; https://doi.org/10.3390/biomedicines12112466 - 27 Oct 2024

Cited by 1 | Viewed by 1332

Abstract

Background: The incidence of non-palpable breast cancer is increasing due to widespread screening and neo-adjuvant therapies. Among the available tumor localization techniques, radio-guided occult lesion localization (ROLL) has largely replaced wire-guided localization (WGL). The aim of this study was to compare the ROLL and WGL techniques in terms of the effectiveness of isotopic marking of axillary sentinel lymph nodes and to assess patient perspectives along with surgeon and radiologist preferences. Methods: A single-center, prospective, randomized study enrolled 110 patients with non-palpable breast lesions (56 ROLL, 54 WGL). Breast type, tumor volume, location, histological and radiological features, and localization/surgical duration were evaluated in the context of sentinel lymph node marking using isotope (technetium-99m-labeled human serum albumin) and blue dye. Statistical analysis was performed with significance set at p < 0.05 and strong significance at p < 0.01. Results: A single-center, prospective, randomized study enrolled 110 patients with non-palpable breast lesions (56 ROLL, 54 WGL). Breast type, tumor volume, location, histological and radiological features, and localization/surgical duration were evaluated in the context of sentinel lymph node marking using isotope (technetium-99m-labeled human serum albumin) and blue dye. Statistical analysis was performed with significance set at p < 0.05 and strong significance at p < 0.01. Conclusions: While ROLL provided advantages in terms of patient comfort and logistical simplicity, WGL was superior for axillary sentinel lymph node marking, particularly in inner quadrant tumors, suggesting that WGL may be preferred in these cases. Full article

(This article belongs to the Special Issue Breast Cancer: New Diagnostic and Therapeutic Approaches)

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12 pages, 897 KiB

Open AccessArticle

Abbreviated Breast MRI as a Supplement to Mammography in Family Risk History of Breast Cancer within the Croatian National Breast Screening Program

by Andrea Šupe Parun, Boris Brkljačić, Gordana Ivanac and Vanja Tešić

Biomedicines 2024, 12(10), 2357; https://doi.org/10.3390/biomedicines12102357 - 16 Oct 2024

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Abstract

Objective: To evaluate the diagnostic performance of abbreviated breast MRI compared with mammography in women with a family history of breast cancer included in the Croatian National Breast Screening Program. Methods: 178 women with a family history of breast cancer aged 50 to 69 underwent abbreviated breast MRI and mammography. Radiological findings for each method were categorized according to the BI-RADS classification. The gold standard for assessing the diagnostic accuracy of breast MRI and mammography, in terms of suspicious BI-RADS 4 and BI-RADS 5 findings, was the histopathological diagnosis. Performance measures, including cancer detection rates, specificity, sensitivity, and positive and negative predictive values, were calculated for both imaging methods. Results: Twelve new cases of breast cancer were detected, with seven (58.3%) identified only by abbreviated breast MRI, four (33.3%) detected by both mammography and breast MRI, and one (8.3%) diagnosed only by mammography. Diagnostic accuracy parameters for abbreviated breast MRI were 91.67% sensitivity, 94.58% specificity, 55.0% positive predictive value (PPV), and 99.37% negative predictive value (NPV), while for mammography, the corresponding values were 41.67%, 96.39%, 45.46%, and 95.81%, respectively. Conclusions: Abbreviated breast MRI is a useful supplement to screening mammography in women with a family history of breast cancer. Considering the results of the conducted research, it is recommended to assess whether women with a family history of breast cancer have an increased risk and subsequently provide annual abbreviated breast MRI in addition to mammography for early detection of breast cancer. Full article

(This article belongs to the Special Issue Breast Cancer: New Diagnostic and Therapeutic Approaches)

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8 pages, 932 KiB

Open AccessCommunication

A Novel AKT1, ERBB2, ESR1, KRAS, PIK3CA, and TP53 NGS Assay: A Non-Invasive Tool to Monitor Resistance Mechanisms to Hormonal Therapy and CDK4/6 Inhibitors

by Alessandra Virga, Caterina Gianni, Michela Palleschi, Davide Angeli, Filippo Merloni, Roberta Maltoni, Paola Ulivi, Giovanni Martinelli, Ugo De Giorgi and Sara Bravaccini

Biomedicines 2024, 12(10), 2183; https://doi.org/10.3390/biomedicines12102183 - 26 Sep 2024

Cited by 2 | Viewed by 1962

Abstract

Background: Patients with hormone receptor-positive (HR+)/HER2- metastatic breast cancer (mBC) generally receive hormonal therapy (HT) combined with CDK4/6 inhibitors (CDK4/6i). Despite this treatment, resistance mechanisms to CDK4/6i emerge and the majority of these patients experience disease progression (PD). This highlight the necessity to uncover the resistance mechanism to CDK4/6i through the identification of specific biomarkers. The primary objective is to assess the accuracy and feasibility of a novel multi-gene target panel NGS assay on circulating tumor DNA (ctDNA) to detect molecular alterations of AKT1, ERBB2, ESR1, KRAS, PIK3CA, and TP53 genes in women with BC undergoing HT plus CDK4/6i treatment. Secondarily, the study aims to explore the relationship between genomic profiling and clinical outcomes. Materials and Methods: Plasma samples were collected from 16 patients diagnosed with advanced/locally advanced HR+/HER2- BC at 2 time points: T0 (baseline) and at T1 (3 months after CDK4/6i treatment). Starting from 2 mL of plasma, ctDNA was isolated and libraries were set up using the Plasma-SeqSensei (PQS)^® Breast Cancer IVD Kit, sequenced on Nextseq 550 and analyzed using the Plasma-SeqSensei™ IVD Software^®. Results: Among the five patients who presented PD, three had PIK3CA mutations and, of these, two showed a higher mutant allele frequency (MAF) at T1. In three patients with stable disease and in eight patients with partial response, the MAF of the detected alterations decreased dramatically or disappeared during CDK4/6i treatment. Conclusions: Based on our findings, the liquid biopsy analysis using the PQS panel seems to be both feasible and accurate, demonstrating a strong sensitivity in detecting mutations. This exploratory analysis of the clinical outcome associated to the mutational status of patients highlights the potential of molecular analysis on liquid biopsy for disease monitoring, although further validation with a larger patient cohort is necessary to confirm these preliminary observations. Full article

(This article belongs to the Special Issue Breast Cancer: New Diagnostic and Therapeutic Approaches)

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Review

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28 pages, 4089 KiB

Open AccessReview

Anticancer Potential of Prebiotics: Targeting Estrogen Receptors and PI3K/AKT/mTOR in Breast Cancer

by Hussein Sabit, Sama Abouelnour, Bassel M. Hassen, Salma Magdy, Ahmed Yasser, Al-Hassan Soliman Wadan, Shaimaa Abdel-Ghany, Faisal Radwan, Amany I. Alqosaibi, Hala Hafiz, Ohaad F. A. Awlya and Borros Arneth

Biomedicines 2025, 13(4), 990; https://doi.org/10.3390/biomedicines13040990 - 18 Apr 2025

Viewed by 766

Abstract

Estrogen receptors (ERs) play a critical role in breast cancer (BC) development and progression, with ERα being oncogenic and ERβ exhibiting tumor-suppressive properties. The interaction between ER signaling and other molecular pathways, such as PI3K/AKT/mTOR, influences tumor growth and endocrine resistance. Emerging research highlights the role of prebiotics in modulating gut microbiota, which may influence estrogen metabolism, immune function, and therapeutic responses in BC. This review explores the impact of prebiotics on estrogen receptor modulation, gut microbiota composition, immune regulation, and metabolic pathways in breast cancer. The potential of prebiotics as adjunctive therapies to enhance treatment efficacy and mitigate chemotherapy-related side effects is discussed. A comprehensive analysis of recent preclinical and clinical studies was conducted, examining the role of prebiotics in gut microbiota modulation, immune regulation, and metabolic reprogramming in breast cancer. The impact of short-chain fatty acids (SCFAs) derived from prebiotic fermentation on epigenetic regulation and endocrine resistance was also evaluated. Prebiotics were found to modulate the gut microbiota-estrogen axis, reduce inflammation, and influence immune responses. SCFAs demonstrated selective estrogen receptor downregulation and metabolic reprogramming, suppressing tumor growth. Synbiotic interventions mitigate chemotherapy-related side effects, improving the quality of life in breast cancer patients. Prebiotics offer a promising avenue for breast cancer prevention and therapy by modulating estrogen metabolism, immune function, and metabolic pathways. Future clinical trials are needed to validate their efficacy as adjunctive treatments in breast cancer management. Full article

(This article belongs to the Special Issue Breast Cancer: New Diagnostic and Therapeutic Approaches)

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19 pages, 6319 KiB

Open AccessReview

Histopathological Analysis of Vacuum-Assisted Breast Biopsy in Relation to Microcalcification Findings on Mammography: A Pictorial Review

by Jana Bebek, Nikolina Novak, Marina Dasović, Eugen Divjak, Čedna Tomasović-Lončarić, Boris Brkljačić and Gordana Ivanac

Biomedicines 2025, 13(3), 737; https://doi.org/10.3390/biomedicines13030737 - 18 Mar 2025

Viewed by 593

Abstract

Mammography is an essential tool in breast screening, often revealing lesions that appear as microcalcifications with or without an associated mass. Decisions about biopsy requirements are guided by the BI-RADS system, aiming to confirm the histopathology of suspicious lesions while avoiding unnecessary procedures. A vacuum-assisted breast biopsy (VABB) is a minimally invasive procedure for diagnosing breast abnormalities. Precise lesion targeting is ensured under stereotactic guidance, reducing the need for repeated procedures. Compared to traditional core needle biopsy (CNB) and fine-needle aspiration cytology (FNAC), it differs in using vacuum assistance to gather more tissue volume, increasing diagnostic accuracy and reducing the likelihood of histological underestimation. This is particularly crucial in cases where microcalcifications are the primary finding, as they are often the earliest signs of ductal carcinoma in situ (DCIS). Managing such findings requires precise diagnostic tools to differentiate benign from malignant lesions without subjecting patients to unnecessary surgical interventions. Building on several years of experience in our department, we have assembled a selection of ten interesting cases encountered in our clinical practice. Each case is documented with paired mammographic images and their corresponding image of histopathological findings, offering a comprehensive view of the diagnostic journey. These cases were selected for their educational value, highlighting the integration of imaging modalities, histopathological evaluation, and clinical decision-making. All cases underwent an extensive diagnostic workup at our facility. This compilation aims to provide valuable insights for both clinicians and researchers, offering a deeper understanding of advanced diagnostic techniques and their role in improving patient outcomes. Full article

(This article belongs to the Special Issue Breast Cancer: New Diagnostic and Therapeutic Approaches)

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