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Cancers
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Inherited Breast Cancer Risk: BRCA Mutations and Beyond
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Inherited Breast Cancer Risk: BRCA Mutations and Beyond

A special issue of Cancers (ISSN 2072-6694). This special issue belongs to the section "Cancer Epidemiology and Prevention".

Deadline for manuscript submissions: closed (20 August 2024) | Viewed by 9749

Special Issue Editors

Prof. Dr. George Fountzilas

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Guest Editor
1. Laboratory of Molecular Oncology, Hellenic Foundation for Cancer Research/Aristotle University of Thessaloniki, Thessaloniki, Greece
2. Department of Medical Oncology, German Oncology Center, Limassol, Cyprus
Interests: breast cancer; translational cancer research
Dr. Helena Linardou

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Guest Editor
1. 4th Oncology Department, Metropolitan Hospital, Athens, Greece
2. Comprehensive Clinical Trials Center, Metropolitan Hospital, Athens, Greece
Interests: breast cancer; lung cancer; cancer genetics; melanoma; translational cancer research
Dr. Alexia Eliades

E-Mail Website
Guest Editor
Medicover Genetics, Nicosia, Cyprus
Interests: molecular oncology; next-generation sequencing; hereditary predisposition to cancer

Special Issue Information

Dear Colleagues,

The presence of pathogenic variants in cancer-predisposing genes has therapeutic implications for patients with breast cancer, and provides critical information for both cancer patients and healthy individuals in terms of prevention and early diagnosis. However, additional research to refine the treatment, surveillance and prevention strategies for individuals with pathogenic variants associated with an increased risk of breast cancer is warranted.

We are pleased to invite you to submit an article to our Special Issue, “Inherited Breast Cancer Risk: BRCA Mutations and Beyond”.

This Special Issue aims to shed some light onto the treatment of patients with breast cancer carrying pathogenic variants in cancer-predisposing genes, evaluate the benefit of cancer prevention strategies in healthy individuals and assess current or proposed early diagnosis screening protocols.

In this Special Issue, original research articles and reviews are welcome. Research areas may include (but are not limited to) the following:

  • Breast cancer risk associated with the presence of pathogenic variants in diverse populations;
  • Mechanisms of response or resistance to targeted treatments used for the treatment of patients with breast cancer carrying pathogenic variants;
  • Benefit of early diagnosis and prevention strategies depending on the pathogenic variant;
  • VUS characterization;
  • Fertility issues in individuals with pathogenic variants in cancer-predisposing genes;
  • Moderate penetrance genes: guidelines and practices;
  • Modifiers of breast cancer risk in pathogenic variant carriers;
  • PARP inhibition in the therapeutic management of gBRCAmut breast cancer;
  • Genetic counselling: by whom and how, with examples of practices in the USA, Europe and around the globe;
  • Male breast cancer and genetic predisposition;
  • Hereditary breast cancer at an older age;
  • Psychology issues and guidelines in hereditary breast cancer/the role of the clinical psychologist;
  • Genetic counselling and clinical management of BRCA-positive breast cancer patients;
  • Next-generation sequencing for detection of the BRCA germline pathogenic variants and HRD genomic signatures in the tumor.

We look forward to receiving your contributions.

Prof. Dr. George Fountzilas
Dr. Helena Linardou
Dr. Alexia Eliades
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 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. Cancers 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 2900 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

  • hereditary
  • BRCA predisposition
  • resistance
  • PARP inhibitors
  • HRD
  • Li Fraumeni
  • testing criteria
  • universal testing

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Published Papers (5 papers)

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Research

12 pages, 841 KiB  
Article
Genetic Testing of Breast Cancer Patients with Very Early-Onset Breast Cancer (≤30 Years) Yields a High Rate of Germline Pathogenic Variants, Mainly in the BRCA1, TP53, and BRCA2 Genes
by Paraskevi Apostolou, Vasiliki Dellatola, Athanasios Papathanasiou, Despoina Kalfakakou, Elena Fountzilas, Dimitrios Tryfonopoulos, Sofia Karageorgopoulou, Drakoulis Yannoukakos, Irene Konstantopoulou and Florentia Fostira
Cancers 2024, 16(13), 2368; https://doi.org/10.3390/cancers16132368 - 27 Jun 2024
Viewed by 1714
Abstract
Early-onset breast cancer constitutes a major criterion for genetic testing referral. Nevertheless, studies focusing on breast cancer patients (≤30 years) are limited. We investigated the contribution and spectrum of known breast-cancer-associated genes in 267 Greek women with breast cancer ≤30 years while monitoring [...] Read more.
Early-onset breast cancer constitutes a major criterion for genetic testing referral. Nevertheless, studies focusing on breast cancer patients (≤30 years) are limited. We investigated the contribution and spectrum of known breast-cancer-associated genes in 267 Greek women with breast cancer ≤30 years while monitoring their clinicopathological characteristics and outcomes. In this cohort, a significant proportion (39.7%) carried germline pathogenic variants (PVs) distributed in 8 genes. The majority, namely 36.7%, involved BRCA1, TP53, and BRCA2. PVs in BRCA1 were the most prevalent (28.1%), followed by TP53 (4.5%) and BRCA2 (4.1%) PVs. The contribution of PVs in CHEK2, ATM, PALB2, PTEN, and RAD51C was limited to 3%. In the patient group ≤26 years, TP53 PVs were significantly higher compared to the group 26–30 years (p = 0.0023). A total of 74.8% of TP53 carriers did not report a family history of cancer. Carriers of PVs receiving neoadjuvant chemotherapy showed an improved event-free survival (p < 0.0001) compared to non-carriers. Overall, many women with early-onset breast cancer carry clinically actionable variants, mainly in the BRCA1/2 and TP53 genes. The inclusion of timely testing of TP53 in these patients provides essential information for appropriate clinical management. This is important for countries where reimbursement involves the cost of genetic analysis of BRCA1/2 only. Full article
(This article belongs to the Special Issue Inherited Breast Cancer Risk: BRCA Mutations and Beyond)
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16 pages, 798 KiB  
Article
Intersectionality, BRCA Genetic Testing, and Intrafamilial Communication of Risk: A Qualitative Study
by Sharlene Hesse-Biber, Memnun Seven, Hannah Shea and Andrew A. Dwyer
Cancers 2024, 16(9), 1766; https://doi.org/10.3390/cancers16091766 - 2 May 2024
Cited by 1 | Viewed by 1203
Abstract
Significant health disparities exist in relation to pathogenic variants in BRCA1/2. This study aimed to better understand the barriers and facilitators to BRCA1/2 genetic testing and intrafamilial communication of risk in racially and ethnically diverse individuals. We conducted qualitative interviews with non-Hispanic [...] Read more.
Significant health disparities exist in relation to pathogenic variants in BRCA1/2. This study aimed to better understand the barriers and facilitators to BRCA1/2 genetic testing and intrafamilial communication of risk in racially and ethnically diverse individuals. We conducted qualitative interviews with non-Hispanic White (n = 11) and Black, Indigenous, People of Color (BIPOC) individuals (n = 14) who underwent testing for pathogenic BRCA1/2 variants. We employed template analysis, case study analysis, and comparative case study analysis to examine healthcare experiences related to genetic testing as well as intrafamilial communication of risk. Applying an intersectional lens, we sought to inform more person-centered approaches to precision healthcare and help dismantle disparities in genomic healthcare. Template analysis revealed salient factors at the individual (psychosocial well-being), interpersonal/familial, and healthcare system levels. A two-part case study analysis provided insights into how race/ethnicity, cultural norms, and socioeconomic status interact with systemic and structural inequities to compound disparities. These findings underscore the need for person-centered, tailored, and culturally sensitive approaches to understanding and addressing the complexities surrounding testing and the communication of BRCA risk. Applying an intersectional lens can inform more person-centered approaches to precision healthcare and may help to surmount existing disparities. Full article
(This article belongs to the Special Issue Inherited Breast Cancer Risk: BRCA Mutations and Beyond)
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27 pages, 6621 KiB  
Article
Development of Symbolic Expressions Ensemble for Breast Cancer Type Classification Using Genetic Programming Symbolic Classifier and Decision Tree Classifier
by Nikola Anđelić and Sandi Baressi Šegota
Cancers 2023, 15(13), 3411; https://doi.org/10.3390/cancers15133411 - 29 Jun 2023
Cited by 6 | Viewed by 1791
Abstract
Breast cancer is a type of cancer with several sub-types. It occurs when cells in breast tissue grow out of control. The accurate sub-type classification of a patient diagnosed with breast cancer is mandatory for the application of proper treatment. Breast cancer classification [...] Read more.
Breast cancer is a type of cancer with several sub-types. It occurs when cells in breast tissue grow out of control. The accurate sub-type classification of a patient diagnosed with breast cancer is mandatory for the application of proper treatment. Breast cancer classification based on gene expression is challenging even for artificial intelligence (AI) due to the large number of gene expressions. The idea in this paper is to utilize the genetic programming symbolic classifier (GPSC) on the publicly available dataset to obtain a set of symbolic expressions (SEs) that can classify the breast cancer sub-type using gene expressions with high classification accuracy. The initial problem with the used dataset is a large number of input variables (54,676 gene expressions), a small number of dataset samples (151 samples), and six classes of breast cancer sub-types that are highly imbalanced. The large number of input variables is solved with principal component analysis (PCA), while the small number of samples and the large imbalance between class samples are solved with the application of different oversampling methods generating different dataset variations. On each oversampled dataset, the GPSC with random hyperparameter values search (RHVS) method is trained using 5-fold cross validation (5CV) to obtain a set of SEs. The best set of SEs is chosen based on mean values of accuracy (ACC), the area under the receiving operating characteristic curve (AUC), precision, recall, and F1-score values. In this case, the highest classification accuracy is equal to 0.992 across all evaluation metric methods. The best set of SEs is additionally combined with a decision tree classifier, which slightly improves ACC to 0.994. Full article
(This article belongs to the Special Issue Inherited Breast Cancer Risk: BRCA Mutations and Beyond)
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18 pages, 8940 KiB  
Article
Chromatin Remodelling Molecule ARID1A Determines Metastatic Heterogeneity in Triple-Negative Breast Cancer by Competitively Binding to YAP
by Ye Wang, Xinyu Chen, Xiaosu Qiao, Yizhao Xie, Duancheng Guo, Bin Li, Jianing Cao, Zhonghua Tao and Xichun Hu
Cancers 2023, 15(9), 2447; https://doi.org/10.3390/cancers15092447 - 25 Apr 2023
Cited by 2 | Viewed by 2112
Abstract
Heterogeneity represents a pivotal factor in the therapeutic failure of triple-negative breast cancer (TNBC). In this study, we retrospectively collected and analysed clinical and pathological data from 258 patients diagnosed with TNBC at the Fudan University Cancer Hospital. Our findings show that low [...] Read more.
Heterogeneity represents a pivotal factor in the therapeutic failure of triple-negative breast cancer (TNBC). In this study, we retrospectively collected and analysed clinical and pathological data from 258 patients diagnosed with TNBC at the Fudan University Cancer Hospital. Our findings show that low ARID1A expression is an independent prognostic indicator for poor overall survival (OS) and recurrence-free survival (RFS) in TNBC patients. Mechanistically, both nuclear and cytoplasmic protein analyses and immunofluorescent localisation assays confirm that ARID1A recruits the Hippo pathway effector YAP into the nucleus in human triple-negative breast cancer cells. Subsequently, we designed a YAP truncator plasmid and confirmed through co-immunoprecipitation that ARID1A can competitively bind to the WW domain of YAP, forming an ARID1A/YAP complex. Moreover, the downregulation of ARID1A promoted migration and invasion in both human triple-negative breast cancer cells and xenograft models through the Hippo/YAP signalling axis. Collectively, these findings demonstrate that ARID1A orchestrates the molecular network of YAP/EMT pathways to affect the heterogeneity in TNBC. Full article
(This article belongs to the Special Issue Inherited Breast Cancer Risk: BRCA Mutations and Beyond)
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11 pages, 931 KiB  
Article
Spectrum of High-Risk Mutations among Breast Cancer Patients Referred for Multigene Panel Testing in a Romanian Population
by Iulian Gabriel Goidescu, Georgiana Nemeti, Mihai Surcel, Gabriela Caracostea, Andreea Roxana Florian, Gheorghe Cruciat, Adelina Staicu, Daniel Muresan, Cerasela Goidescu, Roxana Pintican and Dan Tudor Eniu
Cancers 2023, 15(6), 1895; https://doi.org/10.3390/cancers15061895 - 22 Mar 2023
Viewed by 2202
Abstract
(1) Background: Multigene panel testing for Hereditary Breast and Ovarian Cancer (HBOC) using next generation sequencing (NGS) is becoming a standard in medical care. There are insufficient genetic studies reported on breast cancer (BC) patients from Romania and most of them are focused [...] Read more.
(1) Background: Multigene panel testing for Hereditary Breast and Ovarian Cancer (HBOC) using next generation sequencing (NGS) is becoming a standard in medical care. There are insufficient genetic studies reported on breast cancer (BC) patients from Romania and most of them are focused only on BRCA 1/2 genes (Breast cancer 1/2). (2) Methods: NGS was performed in 255 consecutive cases of BC referred for management in our clinic between 2015–2019. (3) Results: From the 171 mutations identified, 85 were in the high-penetrance BC susceptibility genes category, 72 were pathogenic genes, and 13 genes were in the (variants of uncertain significance) VUS genes category. Almost half of the mutations were in the BRCA 1 gene. The most frequent BRCA1 variant was c.3607C>T (14 cases), followed by c.5266dupC (11 cases). Regarding BRCA-2 mutations we identified c.9371A>T (nine cases), followed by c.8755-1G>A in three cases, and we diagnosed VUS mutations in three cases. We also identified six pathogenic variants in the PALB2 gene and two pathogenic variants in (tumor protein P 53) TP53. (4) Conclusions: The majority of pathogenic mutations in the Romanian population with BC were in the BRCA 1/ 2 genes, followed by PALB2 (partner and localizer of BRCA2) and TP53, while in the CDH1 (cadherin 1) and STK11 (Serine/Threonine-Protein Kinase) genes we only identified VUS mutations. Full article
(This article belongs to the Special Issue Inherited Breast Cancer Risk: BRCA Mutations and Beyond)
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