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Diagnostics
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Advances in the Diagnosis and Management of Breast Cancer
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Advances in the Diagnosis and Management of Breast Cancer

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: 31 December 2025 | Viewed by 3356

Special Issue Editors

Dr. Fulvio Borella

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Guest Editor
Dipartimento di Scienze Chirurgiche, Università degli Studi di Torino (UNITO), Turin, Italy
Interests: cancer biology; gynecologic oncology; tumor biomarkers; cancer diagnostics; breast cancer; ovarian cancer; endometrial cancer; vulvar cancer
Special Issues, Collections and Topics in MDPI journals
Dr. Isabella Castellano

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Guest Editor
Department of Medical Sciences, University of Turin, 10126 Turin, Italy
Interests: breast pathology; immunohistochemistry; molecular biology; oncology
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Breast cancer is one of the most common and deadly cancers among women worldwide. Early diagnosis and effective management are crucial to improving the survival and quality of life of patients. However, there are still many challenges and gaps in the current knowledge and practice of breast cancer diagnosis and management. This Special Issue aims to provide a comprehensive overview of the latest advances and innovations in this field, covering topics such as molecular and genetic biomarkers, imaging techniques, surgical and non-surgical treatments, personalized and precision medicine, and supportive and palliative care. The Special Issue will also highlight the current controversies and future directions of breast cancer research and clinical practice. We invite original research articles, review articles, and perspectives from experts and researchers in the field of breast cancer to contribute to this Special Issue.

Dr. Fulvio Borella
Dr. Isabella Castellano
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Diagnostics is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • prognostic and predictive factors
  • breast carcinoma
  • phylloid tumor
  • immunohistochemistry
  • diagnosis
  • breast cancer

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Further information on MDPI's Special Issue policies can be found here.

Published Papers (3 papers)

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Research

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11 pages, 1070 KiB  
Article
Mastectomy, HER2 Receptor Positivity, NPI, Late Stage and Luminal B-Type Tumor as Poor Prognostic Factors in Geriatric Patients with Breast Cancer
by Demet Nak and Mehmet Kivrak
Diagnostics 2025, 15(1), 13; https://doi.org/10.3390/diagnostics15010013 - 25 Dec 2024
Cited by 1 | Viewed by 775
Abstract
Background/Objectives: This study aims to explore the risk factors associated with poor survival outcomes in geriatric female patients with breast cancer. Methods: This study utilized data from the METABRIC database to evaluate the risk factors associated with poor survival outcomes among geriatric breast [...] Read more.
Background/Objectives: This study aims to explore the risk factors associated with poor survival outcomes in geriatric female patients with breast cancer. Methods: This study utilized data from the METABRIC database to evaluate the risk factors associated with poor survival outcomes among geriatric breast cancer patients. A total of 2909 female patients, 766 of whom were geriatric, were included in the study. The effects of the type of surgery; breast cancer types; cellularity; Estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2) status; molecular class; axillary lymph nodes; Nottingham prognostic index (NPI); status of receiving systemic chemotherapy (SCT), hormone therapy (HT), and radiotherapy (RT); tumor size and tumor on overall survival (OS); and progression-free status (PFS) of geriatric patients were investigated. Additionally, the disease-specific survival of geriatric patients was compared with other patients. Results: HER2 receptor positivity, advanced-stage tumors (T3–T4), a high NPI, and Luminal B subtypes were significant predictors of worse outcomes. Conversely, Luminal A tumors, associated with favorable hormonal responsiveness, demonstrated the best progression-free survival (PFS). HER2-positive patients exhibited a poorer PFS compared to their HER2-negative counterparts, underscoring the need for careful management of aggressive subtypes in older adults. Additionally, patients undergoing mastectomy were less likely to receive adjuvant therapies, contributing to inferior outcomes compared to breast-conserving surgery (BCS). Conclusions: Mastectomy, HER2 positivity, high NPI, advanced stages, and Luminal B tumors are significant prognostic factors in geriatric breast cancer patients. Full article
(This article belongs to the Special Issue Advances in the Diagnosis and Management of Breast Cancer)
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11 pages, 883 KiB  
Article
Reinterpretation of Conflicting ClinVar BRCA1 Missense Variants Using VarSome and CanVIG-UK Gene-Specific Guidance
by Min-Kyung So, Gaeul Jung, Hyun-Jeong Koh, Sholhui Park, Tae-Dong Jeong and Jungwon Huh
Diagnostics 2024, 14(24), 2821; https://doi.org/10.3390/diagnostics14242821 - 14 Dec 2024
Viewed by 1218
Abstract
Background: The accurate interpretation of the BRCA1/2 variant is critical for diagnosing and treating hereditary breast and ovarian cancers. ClinVar is a widely used public database for genetic variants. Conflicting classifications of pathogenicity can occur when different submitters categorize the same genetic [...] Read more.
Background: The accurate interpretation of the BRCA1/2 variant is critical for diagnosing and treating hereditary breast and ovarian cancers. ClinVar is a widely used public database for genetic variants. Conflicting classifications of pathogenicity can occur when different submitters categorize the same genetic variant inconsistently as pathogenic (PV), likely pathogenic (LPV), likely benign (LBV), benign (BV), or a variant of uncertain significance (VUS). The conflicting ClinVar BRCA1/2 variant classifications hinder clinical decision making. We reinterpreted 450 BRCA1 missense variants with conflicting interpretations in ClinVar (accessed on 20 December 2022). Methods: VarSome and the BRCA1/BRCA2: CanVIG-UK gene-specific guidance (CanVIG-UK) classifications were compared, and the five original classifications were consolidated into three categories (PV/LPV, VUS, and BV/LBV). Consensus analysis was performed between re-extracted ClinVar data and VarSome and CanVIG-UK results. Results: The three-category classification of the variants resulted in an overall concordance rate of 58.9% for BRCA1 missense variant interpretation between CanVIG-UK and VarSome, with VarSome having rates of 11.3, 24.7, and 64.0% for PV/LPV, VUS, and BV/LBV classifications and CanVIG-UK having rates of 11.1, 51.6, and 37.3% for P/LPV, VUS, and BV/LBV classifications, respectively. No variants classified as PV/LPV in VarSome were classified as BV/LBV in CanVIG-UK and vice versa. By 1 May 2024, 3.8% (17/450) of these conflicting variants reached a consensus classification in ClinVar and were definitively classified (9 PV/LPV, 1 VUS, and 7 BV/LBV). Conclusions: VarSome and CanVIG-UK have different features that help improve the accuracy of pathogenicity classification, highlighting the potential complementary use of both tools to support clinical decision making. Full article
(This article belongs to the Special Issue Advances in the Diagnosis and Management of Breast Cancer)
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Other

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12 pages, 2370 KiB  
Essay
The Art of Medical Diagnosis: Lessons on Interpretation of Signs from Italian High Renaissance Paintings
by Marcin Śniadecki, Anna Malitowska, Oliwia Musielak, Jarosław Meyer-Szary, Paweł Guzik, Zuzanna Boyke, Martyna Danielkiewicz, Joanna Konarzewska and Cynthia Aristei
Diagnostics 2025, 15(3), 380; https://doi.org/10.3390/diagnostics15030380 - 5 Feb 2025
Viewed by 836
Abstract
Medicine is struggling with the constantly rising incidence of breast cancer. The key to this fight is to be able to speed up diagnosis, as rapid diagnosis reduces the number of aggressive or advanced cases. For this process to be effective, it is [...] Read more.
Medicine is struggling with the constantly rising incidence of breast cancer. The key to this fight is to be able to speed up diagnosis, as rapid diagnosis reduces the number of aggressive or advanced cases. For this process to be effective, it is necessary to have the right attitude toward diagnosis as a research practice. Our critical analysis of diagnosis, as a methodology of medical science, reflects on it as a research practice that is regulated in a socio-subjective way by a methodological culture. This position allows us to contrast critical methodological culture with the habitual–practical, or methodical, culture of practicing diagnosis. We point to the interpretative status of medical analyses performed by medical historians by referring to Italian Renaissance paintings and historical–artistic interpretations. In this field, analyzing disputes between researchers as a clash of methodologies in the ways interpretation transforms signs into meaning is a critical methodological reflection. Medicine is a diverse scientific discourse with a paradigmatic structure in which new ways of conducting diagnostic tests may appear. It is only possible to see this from the methodological level. In addition, passive respect for existing patterns of conduct hinders an exchange of views between researchers, which limits the possibility of correcting research procedures. The ultimate consequence of such passivity is an inability to improve diagnosis, which, in turn, harms the interests of patients. In this regard, it is worth remembering that the paramount objective of diagnosis is not the disease, but the patient. Full article
(This article belongs to the Special Issue Advances in the Diagnosis and Management of Breast Cancer)
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