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Diagnostics
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Diagnosis, Prognosis and Management of Breast Cancer
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Diagnosis, Prognosis and Management of Breast Cancer

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Clinical Diagnosis and Prognosis".

Deadline for manuscript submissions: 21 April 2026 | Viewed by 2638

Special Issue Editor

Dr. Marko Spasic

E-Mail Website
Guest Editor
1. Clinic for General Surgery, University Clinical Center Kragujevac, Kragujevac, Serbia
2. Department of Surgery, Faculty of Medical Sciences, University of Kragujevac, Kragujevac, Serbia
Interests: breast surgery; surgical oncology
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Today, breast cancer is the most commonly diagnosed malignant tumor and one of the leading causes of cancer-related mortality among women. Recent advances in diagnostics and treatment have enabled earlier detection, resulting in improved survival rates. Personalized care, encompassing diagnostic strategies, surgical interventions, systemic treatments, and radiation therapy, is grounded in evidence-based practice and a nuanced understanding of tumor biology. Ongoing efforts are focused on detecting breast cancer at its earliest stages through minimally invasive or non-invasive methods that are also cost-effective. A growing body of research examines both tumor-specific features and individual patient factors that may contribute to the development of malignant breast lesions. Significant strides have been made in diagnosing both premalignant and malignant breast conditions. Innovations in imaging such as 3D mammography, surpassing traditional 2D methods, along with improved patient selection and optimized screening protocols have enhanced early detection. Our understanding of what makes screening effective continues to evolve. Additionally, artificial intelligence is emerging as a powerful tool in both diagnostics and the monitoring of treatment response. Nevertheless, identifying which patients are most likely to benefit from targeted therapies and understanding the mechanisms of drug resistance remain areas of uncertainty. The advent of innovative treatments has enabled the emergence of a trend toward the de-escalation of both breast and axillary surgeries, especially in the post-neoadjuvant setting. Postoperative radiotherapy remains a cornerstone of locoregional control. Today, precise radiation techniques and hypofractionated regimens are widely adopted. However, due to the potential side effects of radiation, identifying radiosensitive patient subgroups is increasingly important, a goal that may be achieved through molecular profiling. Ultimately, personalized diagnostics and therapies are essential for effective breast cancer management. Continued research across all aspects of care is vital to improving patient outcomes and long-term prognosis.

We welcome all manuscripts discussing recent advancements and ongoing challenges in the early detection and personalized management of breast cancer. In particular, we hope to focus on novel imaging modalities, prognosis, molecular profiling, artificial intelligence, and the evolving roles of breast surgery, radiotherapy, systemic medical therapy, including chemotherapy, hormonal therapy, targeted therapy, and immunotherapy.

We look forward to receiving your contributions.

Dr. Marko Spasic
Guest Editor

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 250 words) can be sent to the Editorial Office for assessment.

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

  • breast cancer
  • diagnostics
  • personalized medicine
  • breast surgery
  • individualized treatment
  • radiotherapy
  • immunotherapy
  • targeted therapy

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Published Papers (4 papers)

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Research

20 pages, 547 KB  
Article
Functional Germline DNA Repair Mutations as Predictors of Acute Radiodermatitis in Breast Cancer
by Andreea Cătană, Andrada-Adelaida Belbe, Daniela Laura Martin, Horațiu Ciliboaie, Mariela Sanda Militaru, Irina Ioana Iordănescu, Patriciu Achimaș-Cadariu and Lorin-Manuel Pîrlog
Diagnostics 2026, 16(6), 833; https://doi.org/10.3390/diagnostics16060833 - 11 Mar 2026
Viewed by 288
Abstract
Background/Objectives: Acute radiotherapy-induced skin toxicity is a common complication in breast cancer treatment, with marked interindividual variability not fully explained by clinical factors. This study investigated the contribution of germline mutations in DNA repair and tumor suppressor genes to acute radiodermatitis in [...] Read more.
Background/Objectives: Acute radiotherapy-induced skin toxicity is a common complication in breast cancer treatment, with marked interindividual variability not fully explained by clinical factors. This study investigated the contribution of germline mutations in DNA repair and tumor suppressor genes to acute radiodermatitis in a homogeneous cohort treated with hypofractionated intensity-modulated radiotherapy with inverse planning, with adjustment for potential lifestyle confounders. Methods: Mutations were grouped into four functional categories: homologous recombination repair (HRR), Fanconi anemia (FA), DNA damage response (DDR), and tumor suppressor (TS) genes. Ordinal logistic regression models adjusted for clinical covariates evaluated pooled and functional category-specific mutation effects. Results: Overall, any mutation significantly increased the risk of higher-grade acute radiodermatitis (OR = 2.24, p = 0.003), an effect driven primarily by HRR and FA mutations, as exclusion of these mutations rendered the association non-significant (OR = 1.785, p = 0.064). Functional category-based analyses showed that HRR (OR = 2.60, p = 0.002) and FA (OR = 2.62, p = 0.002) mutations were the strongest predictors, reflecting overlapping roles in double-strand break and interstrand crosslink repair. DDR and TS mutations showed no significant effect. Conclusions: These results highlight the key role of high-fidelity DNA repair in normal tissue radiosensitivity and demonstrate that functional genetic stratification has diagnostic value as a pre-treatment predictive biomarker framework, enabling identification of patients at increased risk of acute skin toxicity and supporting personalized radiotherapy planning. Full article
(This article belongs to the Special Issue Diagnosis, Prognosis and Management of Breast Cancer)
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15 pages, 3520 KB  
Article
Male Breast Cancer in a Bronx Urban Population: A Single-Institution Retrospective Observational Study
by Kristen Lee, Bhakti Patel, Ruth Samson, Emily Hunt, Christian L. Sellers and Takouhie Maldjian
Diagnostics 2026, 16(2), 339; https://doi.org/10.3390/diagnostics16020339 - 21 Jan 2026
Viewed by 283
Abstract
Background/Objectives: This study seeks to evaluate the clinical characteristics of newly diagnosed male breast cancers within the traditionally underserved Bronx population at risk for poorer health outcomes. Methods: We retrospectively searched our database for male patients who presented for mammographic evaluation [...] Read more.
Background/Objectives: This study seeks to evaluate the clinical characteristics of newly diagnosed male breast cancers within the traditionally underserved Bronx population at risk for poorer health outcomes. Methods: We retrospectively searched our database for male patients who presented for mammographic evaluation between 1 January 2016 and 1 October 2024. The primary outcomes were the prevalence of biopsy-proven male breast cancer and its association with gynecomastia and TNM stage at diagnosis. Clinical data, including TNM staging, receptor status, risk factors, and patient demographics, were recorded for patients with biopsy-proven breast cancer based on biopsy results. Two dedicated breast imagers retrospectively evaluated mammograms of these patients to determine by consensus the presence of gynecomastia. Analyses were descriptive in nature. Results: During the study period, 423 screening mammograms and 1775 diagnostic mammograms were performed on male patients. Twenty-six male patients with biopsy-proven breast cancer were identified (two were bilateral and four were multifocal). In total, 69% of our male breast cancer patients (18 out of 26) demonstrated gynecomastia, which was similar across demographic groups, ranging from 63 to 75%. Out of the three patients with Stage 4 disease, two were Black and one was White. Stage 3 or higher disease was seen in 29% of our Black patients, 12% of our White patients, and 0% of our Hispanic patients. Conclusions: Male breast cancer in this Bronx population was frequently associated with gynecomastia and showed notable demographic disparities. Black patients presented with more advanced disease than other demographic groups. These descriptive findings highlight areas of further investigation and may help inform future outreach and early detection efforts in high-risk, underserved communities. This retrospective, single-institution analysis was limited by a small sample size and did not include formal statistical testing; therefore, the findings are descriptive and warrant validation with larger cohorts. Full article
(This article belongs to the Special Issue Diagnosis, Prognosis and Management of Breast Cancer)
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20 pages, 1342 KB  
Article
Diagnostic Correlates of Tumor Biology and Immediate Breast Reconstruction After Mastectomy: Real-World Evidence from a Romanian Cohort
by Iulian Slavu, Raluca Tulin, Alexandru Dogaru, Ileana Dima, Cristina Orlov Slavu, Marius Popescu, Cornelia Nitipir, Daniela-Elena Gheoca Mutu and Adrian Tulin
Diagnostics 2026, 16(1), 31; https://doi.org/10.3390/diagnostics16010031 - 22 Dec 2025
Viewed by 423
Abstract
Background/Objectives: Tumor biology—particularly HER2 expression, Ki-67 proliferation index, and triple-negative phenotype—has traditionally influenced the timing of breast reconstruction after mastectomy. However, real-world data from Eastern Europe remain limited, and variability in access and clinical practice persists. This study aimed to determine whether [...] Read more.
Background/Objectives: Tumor biology—particularly HER2 expression, Ki-67 proliferation index, and triple-negative phenotype—has traditionally influenced the timing of breast reconstruction after mastectomy. However, real-world data from Eastern Europe remain limited, and variability in access and clinical practice persists. This study aimed to determine whether tumor biology independently predicts the likelihood of immediate breast reconstruction (IBR) in a multidisciplinary tertiary center. Methods: We performed a retrospective cross-sectional analysis of 208 consecutive patients who underwent mastectomy with or without IBR between January 2023 and January 2024. Associations between tumor biology (HER2 status, Ki-67 index, and triple-negative subtype) and IBR were examined using χ2 tests, independent samples t-tests, and multivariate logistic regression adjusting for age, BMI, smoking status, comorbidities, neoadjuvant chemotherapy, pathological tumor size (pT), nodal stage (pN), and surgery type. Statistical significance was set at p < 0.05. Results: IBR was performed in 41.4% of HER2-positive and 41.2% of HER2-negative patients (p = 1.00). Reconstruction rates across Ki-67 quartiles (≤10%, 11–20%, 21–40%, ≥41%) were 50.0%, 37.5%, 34.4%, and 37.5%, respectively (p = 0.58). Triple-negative status was not associated with IBR in multivariate analysis (OR = 0.44, 95% CI 0.08–2.18, p = 0.32). Significant predictors of IBR included younger age (OR = 0.87, 95% CI 0.80–0.93, p < 0.001) and less extensive surgery (OR = 0.23, 95% CI 0.09–0.59, p = 0.002). The mean interval to adjuvant therapy was comparable between IBR (28.7 ± 6.2 days) and non-IBR (27.9 ± 5.8 days) groups (p = 0.34), indicating that reconstruction did not delay systemic treatment. Conclusions: In this real-world Romanian cohort, tumor biology did not significantly influence immediate reconstruction decisions. Age and surgical extent were the main determinants of IBR, suggesting that reconstructive access was guided more by clinical than molecular factors. These findings support the shift toward multidisciplinary, biology-informed, and patient-centered surgical decision-making, in line with current ESMO and NCCN recommendations. Despite limitations—including the retrospective design, single-center setting, incomplete BRCA data, and absence of long-term oncologic outcomes—the study provides novel regional perioperative evidence supporting safe and equitable access to immediate reconstruction across biologic subtypes. Full article
(This article belongs to the Special Issue Diagnosis, Prognosis and Management of Breast Cancer)
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15 pages, 3861 KB  
Article
Segmental Non-Mass Enhancement Features in Breast Magnetic Resonance Imaging: A Multicenter Retrospective Study of Histopathologic Correlations
by Hale Aydin, Cansu Bozkurt, Serhat Hayme, Almila Coskun Bilge, Pelin Seher Oztekin, Aydan Avdan Aslan, Irem Ozcan, Serap Gultekin, Abdulkadir Eren and Irmak Durur Subası
Diagnostics 2025, 15(23), 3084; https://doi.org/10.3390/diagnostics15233084 - 4 Dec 2025
Viewed by 1311
Abstract
Background/Objectives: Segmental non-mass enhancement (NME) is the breast MRI distribution pattern with the highest positive predictive value (PPV) for malignancy. Despite its diagnostic relevance, its imaging characteristics have rarely been examined in isolation, leaving uncertainty in clinical practice. This multicenter retrospective cohort [...] Read more.
Background/Objectives: Segmental non-mass enhancement (NME) is the breast MRI distribution pattern with the highest positive predictive value (PPV) for malignancy. Despite its diagnostic relevance, its imaging characteristics have rarely been examined in isolation, leaving uncertainty in clinical practice. This multicenter retrospective cohort study aimed to evaluate multiparametric MRI features—including internal enhancement pattern, dynamic contrast-enhanced (DCE) kinetics, and diffusion restriction—in segmental NME to identify malignancy predictors. Methods: This retrospective cohort review included 14,834 breast MRI reports from five institutions (September 2017–February 2024), identifying 103 women (mean age, 44.4 ± 9.9 years) with segmental NME (70 malignant, 33 benign). MRI was performed at 1.5 T or 3 T using standardized protocols. Two breast radiologists, blinded to pathology, assessed internal enhancement, DCE kinetics, diffusion restriction, and short tau inversion recovery (STIR) features according to BI-RADS. Statistical analyses included chi-square/Fisher’s tests and logistic regression. Results: Clustered ring enhancement (CRE) was significantly associated with malignancy (p = 0.004). Fast initial-phase enhancement (p < 0.001) and delayed-phase washout (p = 0.011) also correlated with malignancy. On multivariate analysis, fast initial-phase enhancement remained an independent predictor (odds ratio [OR] = 5.133, p = 0.031), whereas slow enhancement predicted benignity (OR = 0.194, p = 0.020). Histologies included ductal carcinoma in situ, invasive ductal carcinoma, granulomatous mastitis, and benign hyperplastic lesions. Conclusions: This study, focusing exclusively on segmental NME, identifies CRE, fast initial-phase enhancement, and washout kinetics as reliable imaging biomarkers. Incorporating these features into breast MRI interpretation may improve diagnostic accuracy, risk stratification, and management decisions. Full article
(This article belongs to the Special Issue Diagnosis, Prognosis and Management of Breast Cancer)
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