Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
6.9
3.3
Journals
Diagnostics
Special Issues
Precision Diagnosis and Management of Breast Cancer
share announcement

Precision Diagnosis 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: 31 August 2026 | Viewed by 783

Special Issue Editors

Prof. Dr. Kefah Mokbel

E-Mail Website
Guest Editor
The London Breast Institute, Princess Grace Hospital, 42-52 Nottingham Place, London W1U 5NY, UK
Interests: breast cancer; stem cells; gene profiling; autophagy; liquid biopsy; microRNA
Special Issues, Collections and Topics in MDPI journals
Dr. Jajini Varghese

E-Mail Website
Guest Editor
Department of Surgical Biotechnology, University College London, London WC1E 6BT, UK
Interests: cancer diagnostics; breast cancer management; plastic surgery

Special Issue Information

Dear Colleagues,

Advances in breast cancer diagnostics have transformed risk stratification and therapeutic decision-making, enabling more precise and individualised management strategies. Integration of imaging, pathology, molecular profiling, and minimally invasive biomarkers now supports risk-adapted treatment optimisation aimed at improving quality of life without compromising oncological outcomes. A key focus of this Special Issue is the role of diagnostic innovation in facilitating the safe de-escalation of breast cancer treatment, including surgical, radiation, and systemic therapies.

We invite original research articles, reviews, and perspectives that explore emerging diagnostic tools such as liquid biopsy, gene expression and microRNA profiling, advanced imaging, and biomarker-driven algorithms that guide treatment intensity. Submissions addressing tumour biology, cancer stem cells, autophagy-related pathways, and mechanisms of treatment response or resistance are encouraged, particularly where diagnostic insights inform individualised escalation or de-escalation strategies. Clinically oriented studies evaluating omission or reduction in surgery, radiotherapy, or systemic therapy in well-defined patient populations are especially welcome.

This Special Issue aims to provide a multidisciplinary platform highlighting how precision diagnostics can optimise breast cancer care while maintaining excellent clinical outcomes and enhancing patient quality of life.

Prof. Dr. Kefah Mokbel
Dr. Jajini Varghese
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 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
  • precision diagnostics
  • risk-adapted treatment
  • treatment de-escalation
  • surgery
  • radiotherapy
  • systemic therapy
  • liquid biopsy

Benefits of Publishing in a Special Issue

  • Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
  • Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
  • Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
  • External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
  • Reprint: MDPI Books provides the opportunity to republish successful Special Issues in book format, both online and in print.

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

Published Papers (2 papers)

Download All Papers
Order results
Result details
Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:

Research

Jump to: Review

11 pages, 531 KB  
Article
Circulating Tumor Cells Enhance Prognostic Stratification Beyond ER Assessment by Biopsy or FES-PET in Endocrine-Treated Metastatic Breast Cancer
by Bertha Eisses, Lindsay Angus, Evelien J. M. Kuip, C. Willemien Menke-van der Houven van Oordt, Bert van der Vegt, Andor W. J. M. Glaudemans, Adrienne H. Brouwers, Daniela E. Oprea-Lager, Wim J. G. Oyen, Jasper Emmering, Anieta M. Sieuwerts, Agnes Jager, Jaco Kraan, John W. M. Martens, Elisabeth G. E. de Vries, Stefan Sleijfer and Carolina P. Schröder
Diagnostics 2026, 16(8), 1197; https://doi.org/10.3390/diagnostics16081197 - 17 Apr 2026
Viewed by 516
Abstract
Background/Objectives: Outcome prediction in patients with estrogen (ER)-positive metastatic breast cancer (MBC) remains challenging. We investigated whether circulating tumor cell (CTC) count adds prognostic value in ER-positive MBC using immunohistochemical (IHC) or 16α-[18F]-fluoro-17β-estradiol (FES)-PET imaging. Methods: Patients with newly diagnosed [...] Read more.
Background/Objectives: Outcome prediction in patients with estrogen (ER)-positive metastatic breast cancer (MBC) remains challenging. We investigated whether circulating tumor cell (CTC) count adds prognostic value in ER-positive MBC using immunohistochemical (IHC) or 16α-[18F]-fluoro-17β-estradiol (FES)-PET imaging. Methods: Patients with newly diagnosed non-rapidly progressive MBC receiving first-line endocrine monotherapy, with ER-positive IHC (biopsy) or FES-PET and available CTC count, were included. Associations of CTC count and CTC-ER status based on ESR1 mRNA expression with progression-free survival (PFS) and overall survival (OS) were analyzed, and the added prognostic value of CTC count (<5 vs. ≥5/7.5 mL) beyond a positive ER result was assessed. Results: In patients with ER-positive IHC (n = 98) or FES-PET (n = 99) out of 106 endocrine-treated patients, ≥5 CTCs were associated with shorter PFS (HR 1.86; p = 0.0047 and 1.75; p = 0.011) and OS (HR 3.19 and 3.22; both p < 0.01), respectively, compared with <5 CTCs. Adding CTC count to ER-positive IHC or FES-PET improved prognostic accuracy for PFS (p = 0.006 and 0.012) and OS (both p < 0.001). CTC-ER status (ESR1 RNA) was not associated with outcomes. Conclusions: CTC count adds prognostic value to PET- or biopsy-based ER analysis in endocrine-treated MBC. Full article
(This article belongs to the Special Issue Precision Diagnosis and Management of Breast Cancer)
►▼ Show Figures

Figure 1

Review

Jump to: Research

26 pages, 954 KB  
Review
Post–CDK4/6 Inhibitor Therapeutic Approaches in Hormone Receptor-Positive, HER2-Negative Metastatic Breast Cancer: Current Evidence and Emerging Strategies—A Narrative Review
by Humaid O. Al-Shamsi, Nadia Abdelwahed, Siddig Ibrahim Abdelwahab, Mawada Hussein, Amin Abyad, Saeed Rafii, Hassan Jaafar, Sonia Otsmane, Dima Abdul Jabbar, Hala Abdellatif, Faryal Iqbal, Mudhasir Ahmad, Hampig Kourie and Kefah Mokbel
Diagnostics 2026, 16(12), 1790; https://doi.org/10.3390/diagnostics16121790 (registering DOI) - 10 Jun 2026
Abstract
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−) metastatic breast cancer (mBC). Treatment paradigms have advanced from non-targeted options, such as fulvestrant [...] Read more.
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−) metastatic breast cancer (mBC). Treatment paradigms have advanced from non-targeted options, such as fulvestrant monotherapy or everolimus-based combinations, to precision medicine strategies, including inhibitors of the PI3K/AKT pathway, oral selective estrogen receptor degraders (SERDs), and novel ER-modulating agents, often guided by biomarkers and molecular surveillance. Methods: This narrative review synthesizes evidence from randomized clinical trials, real-world studies, and biomarker-driven analyses published from 2010 to 2026, with emphasis on next-generation sequencing (NGS)-guided genomic profiling, targeted pathway therapies, and circulating tumor DNA (ctDNA)-based proactive interventions in the post-CDK4/6i setting. This review was conducted and reported in accordance with the SANRA recommendations for narrative reviews. Results: Early second-line standards, including fulvestrant and alpelisib for PIK3CA-mutated tumors, established the basis for biomarker-guided treatment in hormone receptor–positive, HER2-negative metastatic breast cancer. With the widespread use of CDK4/6 inhibitors in the first-line setting, the optimal post-progression strategy has shifted toward molecularly selected combination approaches rather than single-agent endocrine therapy, as endocrine monotherapy has shown limited efficacy in acquired resistance. Multiple randomized studies have demonstrated that adding targeted agents to endocrine therapy improves progression-free survival compared with hormonal therapy alone, supporting combination regimens as the preferred strategy after CDK4/6 inhibitor progression, except in carefully selected patients with low disease burden, indolent biology, or frailty where tolerability is a major concern. Precision-based trials have further refined this approach. Elacestrant improved progression-free survival in ESR1-mutated disease in the EMERALD trial, capivasertib plus fulvestrant demonstrated significant benefit in tumors harboring AKT/PIK3CA/PTEN pathway alterations in CAPItello-291, and inavolisib plus palbociclib and fulvestrant achieved both progression-free and overall survival improvement in PIK3CA-mutated patients with early relapse in INAVO120. Real-world analyses further support the effectiveness of these biomarker-directed strategies across diverse clinical subgroups. Comprehensive genomic profiling has identified multiple resistance mechanisms, including ESR1 mutations, PI3K/AKT/mTOR pathway activation, RB1 loss, and FGFR alterations, which may co-occur and reduce sensitivity to endocrine monotherapy. While ESR1 and PI3K pathway alterations now guide approved therapies, FGFR alterations remain investigational targets, with ongoing trials evaluating selective FGFR inhibitors. Proactive switching approaches evaluated in SERENA-6 and PADA-1 demonstrate that serial circulating tumor DNA (ctDNA) monitoring can detect emergent ESR1 mutations before radiographic progression, providing a clinically actionable lead time for early therapeutic modification and extending endocrine-based disease control by approximately 5 to 7 months. Conclusions: Post-CDK4/6i management increasingly relies on NGS-guided precision approaches, integrating pathway-specific therapies and ctDNA surveillance to tailor sequencing based on resistance profiles, prior ET response, and tumor heterogeneity. Future investigations into novel ER degraders and multi-targeted combinations hold potential to further optimize algorithms, extend non-chemotherapy options, and enhance survival in HR+/HER2− mBC. Full article
(This article belongs to the Special Issue Precision Diagnosis and Management of Breast Cancer)
►▼ Show Figures

Figure 1

Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:
 
Displaying articles 1-2
Back to TopTop