Breast Cancer: From Precision Medicine to Diagnostics and Novel Treatment Options

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

Deadline for manuscript submissions: closed (31 August 2023) | Viewed by 4051

Special Issue Editor


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Guest Editor
Department of Radiological, Oncological and Pathological Sciences, Sapienza-University of Rome, 00161 Rome, Italy
Interests: precision medicine; liquid biopsy; CTC; ctDNA; breast cancer; personalized treatment
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Special Issue Information

Dear Colleagues,

Precision oncology has revolutionized cancer research and treatment; however, many efforts are still needed to translate the concept of precision oncology into a truly personalized treatment for our breast cancer patients.

Advances in sequencing techniques unveil all the complexity of the genetic and non-genetic aspects behind breast cancer heterogeneity, but a deeper understanding of gene expression as well as proteomic, immune and metabolism profiles is still an unmet goal in breast cancer research. Many technological advances, such as liquid biopsy, organoids and single cell analysis provide new opportunities for a more comprehensive overview of the unique genomic, proteomic and metabolic background of a tumor.

Radiomics, radiogenomics and artificial intelligence are guiding new approaches aiming to highlight breast cancer characteristics and stratify patients according to risk.

Breast-conserving surgery is the gold standard for most early-stage breast cancer cases. However, new minimally invasive approaches are under evaluation in order to personalize treatment, reduce invasiveness and limit functional impairment.

This Special Issue of Biomedicine focuses on the opportunities and challenges in the diagnosis, prognosis and treatment of breast cancer through personalized oncology as well as on novel diagnostic and prognostic tools, with special attention being given to liquid biopsy.

Dr. Valentina Magri
Guest Editor

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Keywords

  • precision medicine
  • liquid biopsy
  • CTC
  • ctDNA
  • personalized treatment
  • prognostic and predictive biomarkers
  • breast cancer
  • radiogenomics

Published Papers (3 papers)

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Research

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11 pages, 227 KiB  
Article
Early Detection of Disease Progression in Metastatic Cancers: Could CTCs Improve RECIST Criteria?
by Valentina Magri, Luca Marino, Gianluigi De Renzi, Michela De Meo, Francesca Salvatori, Dorelsa Buccilli, Vincenzo Bianco, Daniele Santini, Chiara Nicolazzo and Paola Gazzaniga
Biomedicines 2024, 12(2), 388; https://doi.org/10.3390/biomedicines12020388 - 7 Feb 2024
Viewed by 954
Abstract
Early detection of disease progression is a crucial issue in the management of cancer patients, especially in metastatic settings. Currently, treatment selection mostly relies on criteria based on radiologic evaluations (RECIST). The aim of the present retrospective study is to evaluate the potential [...] Read more.
Early detection of disease progression is a crucial issue in the management of cancer patients, especially in metastatic settings. Currently, treatment selection mostly relies on criteria based on radiologic evaluations (RECIST). The aim of the present retrospective study is to evaluate the potential inclusion of circulating tumor cells (CTCs) in hybrid criteria. CTC counts from a total of 160 patients with different metastatic tumors were analyzed for this purpose. In our cohort, 73 patients were affected by breast cancer, 69 by colorectal cancer and 18 by prostate cancer. PFS and OS were evaluated according to the corresponding prediction of disease progression by CTCs and RECIST criteria. In breast cancer, CTC-I has an important impact on the progression-free survival (PFS) and overall survival (OS) values. When CTC-I predicted earlier than RECIST-I, the disease progression, the PFS and OS were shorter with respect to the opposite case. In particular, PFS was 11 (5–16) vs. 34 (23–45)—with p < 0.001—and OS was 80 (22–138) vs. 116 (43–189), p = 0.33. The results suggest a promising role of CTCs as complementary information which could significantly improve the clinical outcomes, and they encourage consideration of future trials to evaluate new hybrid criteria, particularly for patients with breast cancer. Full article
13 pages, 1387 KiB  
Article
Integrated Molecular Characterization of HER2-Low Breast Cancer Using Next Generation Sequencing (NGS)
by Jean-Louis Merlin, Marie Husson, Nassim Sahki, Pauline Gilson, Vincent Massard, Alexandre Harlé and Agnès Leroux
Biomedicines 2023, 11(12), 3164; https://doi.org/10.3390/biomedicines11123164 - 28 Nov 2023
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Abstract
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 integrated molecular characterization of HER2-low BC, including identification of [...] Read more.
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 integrated molecular characterization of HER2-low BC, including identification of actionable molecular targets, copy number variation (CNV), and microsatellite instability (MSI) analysis. Thirty-one BC specimens (11 HER2+, 10 HER2−, and 10 HER2-low) were routinely analyzed using IHC and ISH, and were selected and analyzed using NGS for gene mutations including ESR1, PIK3CA, AKT1, ERBB2, TP53, BRCA1, and BRCA2, CNV, and MSI. CNV values for the ERBB2 gene were significantly (p < 0.001) different between HER2+, and either HER2-low or HER2− tumors with mean values of 7.8 (SD = 6.8), 1.9 (SD = 0.3), and 2.0 (SD = 0.3), respectively. Using 3.25 as the cutoff value, 96.8% overall concordance of HER2 status was achieved between IHC and NGS compared to IHC and ISH. Using NGS, gene mutations and amplifications were detected in 68% (21/31) and 19% (6/31) of the cases, respectively. One case of MSI was detected in a HER2-negative and ISH unamplified case. Beside IHC, NGS allows the identification of HER2-low subtype simultaneously, with the detection of multiple actionable gene mutations being helpful for molecular board treatment selection. Full article
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Review

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19 pages, 2445 KiB  
Review
Role of Fork-Head Box Genes in Breast Cancer: From Drug Resistance to Therapeutic Targets
by Sadaf, Ali Hazazi, Samia S. Alkhalil, Ahad Amer Alsaiari, Amal F. Gharib, Hayaa M. Alhuthali, Shanika Rana, Abdulaziz A. Aloliqi, Alaa Abdulaziz Eisa, Mohammad Raghibul Hasan and Kapil Dev
Biomedicines 2023, 11(8), 2159; https://doi.org/10.3390/biomedicines11082159 - 1 Aug 2023
Cited by 1 | Viewed by 1330
Abstract
Breast cancer has been acknowledged as one of the most notorious cancers, responsible for millions of deaths around the globe. Understanding the various factors, genetic mutations, comprehensive pathways, etc., that are involved in the development of breast cancer and how these affect the [...] Read more.
Breast cancer has been acknowledged as one of the most notorious cancers, responsible for millions of deaths around the globe. Understanding the various factors, genetic mutations, comprehensive pathways, etc., that are involved in the development of breast cancer and how these affect the development of the disease is very important for improving and revitalizing the treatment of this global health issue. The forkhead-box gene family, comprising 19 subfamilies, is known to have a significant impact on the growth and progression of this cancer. The article looks into the various forkhead genes and how they play a role in different types of cancer. It also covers their impact on cancer drug resistance, interaction with microRNAs, explores their potential as targets for drug therapies, and their association with stem cells. Full article
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