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Cancers
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Hereditary Syndromes and Radiation
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Hereditary Syndromes and Radiation

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

Deadline for manuscript submissions: closed (30 September 2023) | Viewed by 9399

Special Issue Editors

Dr. Ana Margarida Abrantes

E-Mail Website
Guest Editor
1. Biophysics Institute of Faculty of Medicine, Coimbra Institute for Clinical and Biomedical Research (iCBR) Area of Environment Genetics and Oncobiology (CIMAGO), University of Coimbra, 3000-354 Coimbra, Portugal
2. Center for Innovative Biomedicine and Biotechnology (CIBB), 3000-354 Coimbra, Portugal
Interests: cancer; biophysics; radiobiology; animal models
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. Guillaume Vogin

E-Mail Website
Guest Editor
1. Centre François Baclesse, 4240 Ezch-sur-Alzette, Luxembourg
2. UMR 7365 CNRS-UL IMOPA, Équipe 1, Faculté de Médecine, 54505 Vandœuvre-lès-Nancy, France
Interests: radiotherapy; late effects; fibrosis; individual radiosensitivity; radiomics

Special Issue Information

Dear Colleagues,

About 5% of all cancers are part of a hereditary cancer syndrome. Concerning the use of radiation for cancer treatment, recommendations are established under the assumption that the general population has relatively uniform radiation sensitivity, excluding a few known rare radiation sensitivity–related clinical syndromes. As the availability of genetic tests increases, questions arise in clinical practice as to whether DNA mutations are related to repair pathways that have not been well studied with regard to radiation effects. Potential topics for this Special Issue include, but are not limited to, genetic cancer syndromes, ionizing radiation effects, cell repair mechanisms in genetic cancer syndromes, radiation therapy, ionizing radiation effect diagnostic methods, and new insights into hereditary cancer syndromes.

Dr. Ana Margarida Abrantes
Prof. Dr. Guillaume Vogin
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. 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 cancer syndrome
  • ionizing radiation
  • radiobiology
  • cancer therapy

Published Papers (4 papers)

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Research

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13 pages, 8827 KiB  
Article
Evaluation of the Prognostic Value of Pretherapeutic Magnetic Resonance Imaging in Predicting Soft Tissue Sarcoma Radiation Response: A Retrospective Study from a Large Institutional Sarcoma Imaging Database
by Guillaume Vogin, Matthias Lepage, Julia Salleron, Mathilde Cuenin, Alain Blum and Pedro Augusto Gondim Teixeira
Cancers 2024, 16(5), 878; https://0-doi-org.brum.beds.ac.uk/10.3390/cancers16050878 - 22 Feb 2024
Viewed by 489
Abstract
Background: RT-induced hyalinization/fibrosis was recently evidenced as a significant independent predictor for complete response to neoadjuvant radiotherapy (RT) and survival in patients with soft tissue sarcoma (STS). Purpose: Non-invasive predictive markers of histologic response after neoadjuvant RT of STS are expected. Materials and [...] Read more.
Background: RT-induced hyalinization/fibrosis was recently evidenced as a significant independent predictor for complete response to neoadjuvant radiotherapy (RT) and survival in patients with soft tissue sarcoma (STS). Purpose: Non-invasive predictive markers of histologic response after neoadjuvant RT of STS are expected. Materials and Methods: From May 2010 to April 2017, patients with a diagnosis of STS who underwent neoadjuvant RT for limb STS were retrieved from a single center prospective clinical imaging database. Tumor Apparent Diffusion Coefficients (ADC) and areas under the time-intensity perfusion curve (AUC) were compared with the histologic necrosis ratio, fibrosis, and cellularity in post-surgical specimens. Results: We retrieved 29 patients. The median ADC value was 134.3 × 10−3 mm2/s. ADC values positively correlated with the post-treatment tumor necrosis ratio (p = 0.013). Median ADC values were lower in patients with less than 50% necrosis and higher in those with more than 50% (120.3 × 10−3 mm2/s and 202.0 × 10−3 mm2/s, respectively (p = 0.020). ADC values higher than 161 × 10−3 mm2/s presented a 95% sensitivity and a 55% specificity for the identification of tumors with more than 50% tumor necrosis ratio. Tumor-to-muscle AUC ratios were associated with histologic fibrosis (p = 0.036). Conclusions: ADC and perfusion AUC correlated, respectively, with radiation-induced tumor necrosis and fibrosis. Full article
(This article belongs to the Special Issue Hereditary Syndromes and Radiation)
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Review

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14 pages, 913 KiB  
Review
Risk of Second Tumors in Retinoblastoma Survivors after Ionizing Radiation: A Review
by Diana Figueiredo, Inês A. Marques, Ana Salomé Pires, Claudia F. Cavaleiro, Luís C. Costa, Guilherme Castela, Joaquim N. Murta, Maria Filomena Botelho and Ana Margarida Abrantes
Cancers 2023, 15(22), 5336; https://0-doi-org.brum.beds.ac.uk/10.3390/cancers15225336 - 09 Nov 2023
Viewed by 921
Abstract
Retinoblastoma (RB) is the most common ocular neoplasm in children, whose development depends on two mutational events that occur in both alleles of the retinoblastoma susceptibility gene (RB1). Regarding the nature of these mutational events, RB can be classified as hereditary [...] Read more.
Retinoblastoma (RB) is the most common ocular neoplasm in children, whose development depends on two mutational events that occur in both alleles of the retinoblastoma susceptibility gene (RB1). Regarding the nature of these mutational events, RB can be classified as hereditary if the first event is a germline mutation and the second one is a somatic mutation in retina cells or nonhereditary if both mutational events occur in somatic cells. Although the rate of survival of RB is significantly elevated, the incidence of second malignant neoplasms (SMNs) is a concern, since SMNs are the main cause of death in these patients. Effectively, RB patients present a higher risk of SMN incidence compared to other oncology patients. Furthermore, evidence confirms that hereditary RB survivors are at a higher risk for SMNs than nonhereditary RB survivors. Over the decades, some studies have been performed to better understand this subject, evaluating the risk of the development of SMNs in RB patients. Furthermore, this risk seems to increase with the use of ionizing radiation in some therapeutic approaches commonly used in the treatment of RB. This review aims to clarify the effect of ionizing radiation in RB patients and to understand the association between the risk of SMN incidence in patients that underwent radiation therapy, especially in hereditary RB individuals. Full article
(This article belongs to the Special Issue Hereditary Syndromes and Radiation)
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30 pages, 2485 KiB  
Review
Cancer and Radiosensitivity Syndromes: Is Impaired Nuclear ATM Kinase Activity the Primum Movens?
by Laura El Nachef, Elise Berthel, Mélanie L. Ferlazzo, Eymeric Le Reun, Joelle Al-Choboq, Juliette Restier-Verlet, Adeline Granzotto, Laurène Sonzogni, Michel Bourguignon and Nicolas Foray
Cancers 2022, 14(24), 6141; https://0-doi-org.brum.beds.ac.uk/10.3390/cancers14246141 - 13 Dec 2022
Cited by 4 | Viewed by 2119
Abstract
There are a number of genetic syndromes associated with both high cancer risk and clinical radiosensitivity. However, the link between these two notions remains unknown. Particularly, some cancer syndromes are caused by mutations in genes involved in DNA damage signaling and repair. How [...] Read more.
There are a number of genetic syndromes associated with both high cancer risk and clinical radiosensitivity. However, the link between these two notions remains unknown. Particularly, some cancer syndromes are caused by mutations in genes involved in DNA damage signaling and repair. How are the DNA sequence errors propagated and amplified to cause cell transformation? Conversely, some cancer syndromes are caused by mutations in genes involved in cell cycle checkpoint control. How is misrepaired DNA damage produced? Lastly, certain genes, considered as tumor suppressors, are not involved in DNA damage signaling and repair or in cell cycle checkpoint control. The mechanistic model based on radiation-induced nucleoshuttling of the ATM kinase (RIANS), a major actor of the response to ionizing radiation, may help in providing a unified explanation of the link between cancer proneness and radiosensitivity. In the frame of this model, a given protein may ensure its own specific function but may also play additional biological role(s) as an ATM phosphorylation substrate in cytoplasm. It appears that the mutated proteins that cause the major cancer and radiosensitivity syndromes are all ATM phosphorylation substrates, and they generally localize in the cytoplasm when mutated. The relevance of the RIANS model is discussed by considering different categories of the cancer syndromes. Full article
(This article belongs to the Special Issue Hereditary Syndromes and Radiation)
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17 pages, 1167 KiB  
Review
An Overview on Radiation Sensitivity in Hereditary Breast and Ovarian Cancer Syndrome
by Diana Gonçalves, Ana Salomé Pires, Inês A. Marques, Inês Gomes, Gabriela Sousa, Maria Filomena Botelho and Ana Margarida Abrantes
Cancers 2022, 14(13), 3254; https://0-doi-org.brum.beds.ac.uk/10.3390/cancers14133254 - 02 Jul 2022
Cited by 7 | Viewed by 5187
Abstract
Hereditary breast and ovarian cancer (HBOC) syndrome is a condition in which individuals have an increased risk of developing different types of cancer when compared to the general population. BRCA1 repair associated (BRCA1) and BRCA2 repair associated (BRCA2) genes [...] Read more.
Hereditary breast and ovarian cancer (HBOC) syndrome is a condition in which individuals have an increased risk of developing different types of cancer when compared to the general population. BRCA1 repair associated (BRCA1) and BRCA2 repair associated (BRCA2) genes are tumor suppressor genes that play a crucial role in cell, by repairing DNA damage. Mutations in these genes are responsible for 25% of HBOC cases. Individuals with this syndrome are often subjected to diagnostic imaging techniques, as well as therapeutic options, that use ionizing radiation, so it is crucial to understand whether these individuals may present higher radiosensitivity and, therefore, its consequences. Several studies have been carried out to understand if the exposure to different ionizing radiation doses can induce cancer in individuals with HBOC. Some of these studies have shown that individuals with HBOC are hypersensitive to the ionizing radiation and, therefore, have neoplasms resulting from mutations in genes that are important in maintaining genomic stability. When mutated, genes no longer guarantee this stability and promote the induction of carcinogenesis. Oppositely, other studies show that there is no association between exposure to ionizing radiation and an increased risk of developing cancer. Thus, the results are inconsistent, and there is a great need to clarify this relationship. In this review, we present the characteristics of HBOC syndrome and the effects that ionizing radiation can induce in individuals who have it. In addition, we review the studies that have already been carried out on this subject. Full article
(This article belongs to the Special Issue Hereditary Syndromes and Radiation)
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