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Translational Research in Breast Cancer
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Translational Research in Breast Cancer

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Oncology".

Deadline for manuscript submissions: closed (28 February 2024) | Viewed by 18291

Special Issue Editors

Dr. Lilian Jara

E-Mail Website
Guest Editor
Laboratorio de Genética Humana, Programa de Genética Humana, Instituto de Ciencia Biomédicas (ICBM), Facultad de Medicina, Universidad de Chile, Santiago 8380453, Chile
Interests: breast cancer genetics; familial breast cancer; translational research; SNPs bi-omarker; genetic testing; miRNA biology in breast cancer; miRNA SNPs
Prof. Dr. Julio C. Tapia

E-Mail Website
Guest Editor
Cell & Molecular Biology Program, Institute of Biomedical Sciences, Faculty of Medicine, University of Chile, Santiago 8380453, Chile
Interests: CK2; phosphorylation; endothelin-converting enzyme; beta-catenin; cancer aggressiveness

Special Issue Information

Dear Colleagues,

Breast cancer (BC) has a high mortality rate and is the most common type of cancer among women worldwide. The disease is characterized by the expression of aberrant genes that confer tumors with heterogeneous morphology and aggressiveness, producing diverse clinical manifestations. Great efforts are currently put forth in translational breast cancer research. These efforts are directed to both the development of new drugs and the implementation of novel techniques able to stratify patients according to their molecular profiles. At present, translational BC research benefits from an array of knowledge coming from whole genome studies taking into account molecular drivers related to breast carcinogenesis.

Translational BC research from the bench to bedside has become one of the most important tools to address the gaps, helping clinicians to overcome difficulties in diagnosis, treatment, and management. Since the establishment of the intrinsic subtypes, it has been demonstrated as a big challenge that BC research must be carried out in a multidisciplinary environment implicating bioinformaticians, molecular biologists, geneticists, genetic counselors, etc.

In this Special Issue, we call for original research articles, reviews, communications, and advanced case reports that summarize the latest findings in breast cancer research from the bench to bedside. These studies can be related to the genetics and biology of breast cancer, gene interaction networks, biomarkers, in silico modeling, mutational-status-driven risk management, pre-clinical models, and patient stratification based on genomics.

Dr. Lilian Jara
Prof. Dr. Julio C. Tapia
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. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. 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 genetics and biology
  • gene interaction networks
  • breast cancer biomarkers
  • in silico analysis
  • molecular testing and genetic counseling
  • pre-clinical models for genetic variant analysis

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Published Papers (5 papers)

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Research

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13 pages, 326 KiB  
Article
Association of Germline Variation in Driver Genes with Breast Cancer Risk in Chilean Population
by Sebastián Morales-Pison, Julio C. Tapia, Sarai Morales-González, Edio Maldonado, Mónica Acuña, Gloria M. Calaf and Lilian Jara
Int. J. Mol. Sci. 2023, 24(22), 16076; https://doi.org/10.3390/ijms242216076 - 8 Nov 2023
Cited by 1 | Viewed by 1621
Abstract
Cancer is a genomic disease, with driver mutations contributing to tumorigenesis. These potentially heritable variants influence risk and underlie familial breast cancer (BC). This study evaluated associations between BC risk and 13 SNPs in driver genes MAP3K1, SF3B1, SMAD4, ARID2 [...] Read more.
Cancer is a genomic disease, with driver mutations contributing to tumorigenesis. These potentially heritable variants influence risk and underlie familial breast cancer (BC). This study evaluated associations between BC risk and 13 SNPs in driver genes MAP3K1, SF3B1, SMAD4, ARID2, ATR, KMT2C, MAP3K13, NCOR1, and TBX3, in BRCA1/2-negative Chilean families. SNPs were genotyped using TaqMan Assay in 492 cases and 1285 controls. There were no associations between rs75704921:C>T (ARID2); rs2229032:A>C (ATR); rs3735156:C>G (KMT2C); rs2276738:G>C, rs2293906:C>T, rs4075943T:>A, rs13091808:C>T (MAP3K13); rs178831:G>A (NCOR1); or rs3759173:C>A (TBX3) and risk. The MAP3K1 rs832583 A allele (C/A+A/A) showed a protective effect in families with moderate BC history (OR = 0.7 [95% CI 0.5–0.9] p = 0.01). SF3B1 rs16865677-T (G/T+T/T) increased risk in sporadic early-onset BC (OR = 1.4 [95% CI 1.0–2.0] p = 0.01). SMAD4 rs3819122-C (A/C+C/C) increased risk in cases with moderate family history (OR = 2.0 [95% CI 1.3–2.9] p ≤ 0.0001) and sporadic cases diagnosed ≤50 years (OR = 1.6 [95% CI 1.1–2.2] p = 0.006). SMAD4 rs12456284:A>G increased BC risk in G-allele carriers (A/G + G/G) in cases with ≥2 BC/OC cases and early-onset cases (OR = 1.2 [95% CI 1.0–1.6] p = 0.04 and OR = 1.4 [95% CI 1.0–1.9] p = 0.03, respectively). Our study suggests that specific germline variants in driver genes MAP3K1, SF3B1, and SMAD4 contribute to BC risk in Chilean population. Full article
(This article belongs to the Special Issue Translational Research in Breast Cancer)
17 pages, 2672 KiB  
Article
A Single Variant in Pri-miRNA-155 Associated with Susceptibility to Hereditary Breast Cancer Promotes Aggressiveness in Breast Cancer Cells
by Natalia Landeros, Patricio Gonzalez-Hormazabal, Pablo Pérez-Moreno, Julio C. Tapia and Lilian Jara
Int. J. Mol. Sci. 2022, 23(23), 15418; https://doi.org/10.3390/ijms232315418 - 6 Dec 2022
Cited by 6 | Viewed by 2809
Abstract
Variants in genes encoding for microRNAs have been associated with their deregulation in breast cancer (BC). Sequencing of microRNAs deregulated in BC was performed using DNA from Chilean patients with a strong family history and negative for mutations in BRCA1/BRCA2. Seventeen variants were [...] Read more.
Variants in genes encoding for microRNAs have been associated with their deregulation in breast cancer (BC). Sequencing of microRNAs deregulated in BC was performed using DNA from Chilean patients with a strong family history and negative for mutations in BRCA1/BRCA2. Seventeen variants were identified, three of which were selected for a case-control association study: rs376491654 (miR-335), rs755634302 (miR-497), and rs190708267 (miR-155). For rs190708267 C>T, the heterozygous T allele was detected in four BC cases and absent in controls, while homozygous TT cases were not detected. Variants were modelled in silico, cloned in a plasmid, expressed in BC cell lines, and functional in vitro assays were performed. Overexpression of the miR-155-T allele increased mature miR-155-5p levels in both BC cell lines, suggesting that its presence alters pre-miR-155 processing. Moreover, BC cells overexpressing the miR-155-T allele showed increased proliferation, migration, and resistance to cisplatin-induced death compared to miR-155-C overexpressing cells. Of note, the 3′UTR of APC, GSK3β, and PPP1CA genes, all into the canonical Wnt signaling pathway, were identified as direct targets. APC and GSK3β mRNA levels decreased while PP1 levels increased. These results suggest a pathogenic role of the variant rs190708267 (miR-155) in BRCA 1/2 negative BC, conferring susceptibility and promoting traits of aggressiveness. Full article
(This article belongs to the Special Issue Translational Research in Breast Cancer)
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Review

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20 pages, 2086 KiB  
Review
Genomic Alterations Affecting Competitive Endogenous RNAs (ceRNAs) and Regulatory Networks (ceRNETs) with Clinical Implications in Triple-Negative Breast Cancer (TNBC)
by Amal Qattan
Int. J. Mol. Sci. 2024, 25(5), 2624; https://doi.org/10.3390/ijms25052624 - 23 Feb 2024
Cited by 2 | Viewed by 2490
Abstract
The concept of competitive endogenous RNA regulation has brought on a change in the way we think about transcriptional regulation by miRNA–mRNA interactions. Rather than the relatively simple idea of miRNAs negatively regulating mRNA transcripts, mRNAs and other non-coding RNAs can regulate miRNAs [...] Read more.
The concept of competitive endogenous RNA regulation has brought on a change in the way we think about transcriptional regulation by miRNA–mRNA interactions. Rather than the relatively simple idea of miRNAs negatively regulating mRNA transcripts, mRNAs and other non-coding RNAs can regulate miRNAs and, therefore, broad networks of gene products through competitive interactions. While this concept is not new, its significant roles in and implications on cancer have just recently come to light. The field is now ripe for the extrapolation of technologies with a substantial clinical impact on cancer. With the majority of the genome consisting of non-coding regions encoding regulatory RNAs, genomic alterations in cancer have considerable effects on these networks that have been previously unappreciated. Triple-negative breast cancer (TNBC) is characterized by high mutational burden, genomic instability and heterogeneity, making this aggressive breast cancer subtype particularly relevant to these changes. In the past few years, much has been learned about the roles of competitive endogenous RNA network regulation in tumorigenesis, disease progression and drug response in triple-negative breast cancer. In this review, we present a comprehensive view of the new knowledge and future perspectives on competitive endogenous RNA networks affected by genomic alterations in triple-negative breast cancer. An overview of the competitive endogenous RNA (ceRNA) hypothesis and its bearing on cellular function and disease is provided, followed by a thorough review of the literature surrounding key competitive endogenous RNAs in triple-negative breast cancer, the genomic alterations affecting them, key disease-relevant molecular and functional pathways regulated by them and the clinical implications and significance of their dysregulation. New knowledge of the roles of these regulatory mechanisms and the current acceleration of research in the field promises to generate insights into the diagnosis, classification and treatment of triple-negative breast cancer through the elucidation of new molecular mechanisms, therapeutic targets and biomarkers. Full article
(This article belongs to the Special Issue Translational Research in Breast Cancer)
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16 pages, 623 KiB  
Review
Antibody–Drug Conjugates in Breast Cancer: Current Status and Future Directions
by Cynthia Mark, Jin Sun Lee, Xiaojiang Cui and Yuan Yuan
Int. J. Mol. Sci. 2023, 24(18), 13726; https://doi.org/10.3390/ijms241813726 - 6 Sep 2023
Cited by 31 | Viewed by 5131
Abstract
Antibody drug conjugates (ADCs) are novel medications that combine monoclonal antibodies with cytotoxic payloads, enabling the selective delivery of potent drugs to cancer cells expressing specific surface antigens. This targeted strategy seeks to optimize treatment effectiveness while reducing the risk of systemic toxicity, [...] Read more.
Antibody drug conjugates (ADCs) are novel medications that combine monoclonal antibodies with cytotoxic payloads, enabling the selective delivery of potent drugs to cancer cells expressing specific surface antigens. This targeted strategy seeks to optimize treatment effectiveness while reducing the risk of systemic toxicity, distinguishing ADCs from conventional chemotherapy. The rapid growth in ADC research has led to numerous developments and approvals for cancer treatment, with significant impacts on the management of breast cancer. ADCs like T-DXd for HER2-low disease and sacituzumab govitecan for triple negative breast cancer (TNBC) have provided valuable options for challenging subtypes of breast cancer. However, essential questions still need to be addressed, including the optimal order of ADCs amidst the growing number of newly developed ones and strategies to overcome resistance mechanisms. Preclinical studies have shed light on potential resistance mechanisms, emphasizing the potential benefit of combinational approaches with other agents such as immune checkpoint inhibitors (ICIs) and targeted tyrosine kinase inhibitors (TKIs) to enhance treatment effectiveness. Additionally, personalized approaches based on molecular profiling hold promise in tailoring ADC treatments to individual tumors, identifying unique molecular markers for each patient to optimize treatment efficacy while minimizing side effects. Full article
(This article belongs to the Special Issue Translational Research in Breast Cancer)
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16 pages, 668 KiB  
Review
HER2 Low Breast Cancer: A New Subtype or a Trojan for Cytotoxic Drug Delivery?
by Marina Popović, Tajana Silovski, Marija Križić and Natalija Dedić Plavetić
Int. J. Mol. Sci. 2023, 24(9), 8206; https://doi.org/10.3390/ijms24098206 - 4 May 2023
Cited by 14 | Viewed by 5192
Abstract
Despite the great progress made in the understanding of the biological behavior of certain types of invasive breast cancer, there is still no single histological or molecular classification that encompasses such diversity and accurately predicts the clinical course of distinct breast cancer subtypes. [...] Read more.
Despite the great progress made in the understanding of the biological behavior of certain types of invasive breast cancer, there is still no single histological or molecular classification that encompasses such diversity and accurately predicts the clinical course of distinct breast cancer subtypes. The long-lasting classification of breast cancer as HER2-positive vs. HER2-negative has recently come into question with the discovery of new antibody drug conjugates (ADC), which are proven to be remarkably efficient in treating HER2-low breast cancer. The HER2-low paradigm has challenged the traditional understanding of HER2 overexpression and emphasized the need for more robust HER2 testing in order to encompass HER2 intratumoral heterogeneity and spatial distribution more accurately. It is yet to be seen if low HER2 will remain merely a marker of HER2-equipped tumors targetable with ADCs or if distinctive molecular and phenotypic groups within HER2-low tumors will eventually be discerned. Full article
(This article belongs to the Special Issue Translational Research in Breast Cancer)
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