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DNA Repair in Human Disease
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DNA Repair in Human Disease

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

Deadline for manuscript submissions: closed (30 April 2021) | Viewed by 20660

Special Issue Editors

Prof. Dr. Daniela Turchetti

E-Mail Website
Guest Editor
Department of Medical and Surgical Sciences, Unit of Medical Genetics, University of Bologna, Bologna, Italy
Interests: hereditary cancer; genetic counseling; genetic education; BRCA genes; Lynch Syndrome; colorectal polyposis; multi-tumor syndromes
Dr. Roberta Zuntini

E-Mail
Guest Editor
Unit of Medical Genetics, University Hospital of Parma, Parma, Italy

Special Issue Information

Dear Colleagues,

DNA is continuously exposed to endogenous and exogenous damaging agents. The ability to promptly detect and repair DNA damage is crucial for the cell to survive and maintain normal phenotype and behavior. Therefore, multiple mechanisms exist to ensure that different types of DNA damage can be corrected. Inherited or acquired defects of DNA repair pathways in humans result in a variety of clinical manifestations, including developmental abnormalities, neurological diseases, cancer, immunodeficiencies, etc. Advances in the knowledge of diseases caused by DNA repair failure not only lead to a better understanding of molecular mechanisms of repair, but also increase the chances of preventing or correctly diagnosing those diseases while providing clues for effective treatments. Exploiting synthetic lethality in cancers with defects in homologous recombination pathways through the use of PARP-inhibitors is one clear example of the successful translation of such knowledge.

Prof. Dr. Daniela Turchetti
Dr. Roberta Zuntini
Guest Editors

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Published Papers (3 papers)

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Research

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12 pages, 2130 KiB  
Article
Analysis of Epigenetic Alterations in Homologous Recombination DNA Repair Genes in Male Breast Cancer
by Saudade André, Sandra P. Nunes, Fernanda Silva, Rui Henrique, Ana Félix and Carmen Jerónimo
Int. J. Mol. Sci. 2020, 21(8), 2715; https://doi.org/10.3390/ijms21082715 - 14 Apr 2020
Cited by 6 | Viewed by 3436
Abstract
Background: Male breast cancer (BC) is a distinct neoplasm with low but rising incidence, frequently diagnosed as advanced stage disease. Considering the relevance of altered homologous recombination repair (HRR) in male BC, we aimed to explore the biomarker potential of aberrant promoter methylation [...] Read more.
Background: Male breast cancer (BC) is a distinct neoplasm with low but rising incidence, frequently diagnosed as advanced stage disease. Considering the relevance of altered homologous recombination repair (HRR) in male BC, we aimed to explore the biomarker potential of aberrant promoter methylation of ATM, BRCA1, PALB2, RAD51B, and XRCC3. Methods: Formalin-fixed paraffin-embedded (FFPE) tissue samples from 128 male BC patients, paired adjacent normal tissue and 19 gynecomastia cases were collected and assessed by quantitative methylation-specific PCR (qMSP). Non-parametric tests were used to compare methylation levels between tumor and non-tumor samples and to seek for associations with clinicopathological variables. Results: Only RAD51B and XRCC3 disclosed significant differences between tumor and gynecomastia (p < 0.0001 and p = 0.020, respectively). Assembled in a panel, RAD51B and XRCC3 promoter methylation discriminated male BC from gynecomastia with 91.5% sensitivity, 89.5% specificity, and 91.2% accuracy. Moreover, promoter methylation levels were lower in paired non-tumor tissues, comparing to tumor samples. No associations were found between epigenetic alterations and clinicopathological features, as well as with RAD51 and XRCC3 immunoexpression and methylation levels. Conclusion: Quantitative promoter methylation of RAD51B and XRCC3 constitutes a promising and accurate biomarker for male BC. Validation in larger series and in liquid biopsies is warranted to confirm its usefulness in detection and monitoring settings. Full article
(This article belongs to the Special Issue DNA Repair in Human Disease)
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Review

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20 pages, 1128 KiB  
Review
Classification of MSH6 Variants of Uncertain Significance Using Functional Assays
by Jane H. Frederiksen, Sara B. Jensen, Zeynep Tümer and Thomas v. O. Hansen
Int. J. Mol. Sci. 2021, 22(16), 8627; https://doi.org/10.3390/ijms22168627 - 11 Aug 2021
Cited by 11 | Viewed by 7368
Abstract
Lynch syndrome (LS) is one of the most common hereditary cancer predisposition syndromes worldwide. Individuals with LS have a high risk of developing colorectal or endometrial cancer, as well as several other cancers. LS is caused by autosomal dominant pathogenic variants in one [...] Read more.
Lynch syndrome (LS) is one of the most common hereditary cancer predisposition syndromes worldwide. Individuals with LS have a high risk of developing colorectal or endometrial cancer, as well as several other cancers. LS is caused by autosomal dominant pathogenic variants in one of the DNA mismatch repair (MMR) genes MLH1, MSH2, PMS2 or MSH6, and typically include truncating variants, such as frameshift, nonsense or splicing variants. However, a significant number of missense, intronic, or silent variants, or small in-frame insertions/deletions, are detected during genetic screening of the MMR genes. The clinical effects of these variants are often more difficult to predict, and a large fraction of these variants are classified as variants of uncertain significance (VUS). It is pivotal for the clinical management of LS patients to have a clear genetic diagnosis, since patients benefit widely from screening, preventive and personal therapeutic measures. Moreover, in families where a pathogenic variant is identified, testing can be offered to family members, where non-carriers can be spared frequent surveillance, while carriers can be included in cancer surveillance programs. It is therefore important to reclassify VUSs, and, in this regard, functional assays can provide insight into the effect of a variant on the protein or mRNA level. Here, we briefly describe the disorders that are related to MMR deficiency, as well as the structure and function of MSH6. Moreover, we review the functional assays that are used to examine VUS identified in MSH6 and discuss the results obtained in relation to the ACMG/AMP PS3/BS3 criterion. We also provide a compiled list of the MSH6 variants examined by these assays. Finally, we provide a future perspective on high-throughput functional analyses with specific emphasis on the MMR genes. Full article
(This article belongs to the Special Issue DNA Repair in Human Disease)
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28 pages, 604 KiB  
Review
DNA Damage Response and Immune Defense
by Claudia Nastasi, Laura Mannarino and Maurizio D’Incalci
Int. J. Mol. Sci. 2020, 21(20), 7504; https://doi.org/10.3390/ijms21207504 - 12 Oct 2020
Cited by 85 | Viewed by 8942
Abstract
DNA damage is the cause of numerous human pathologies including cancer, premature aging, and chronic inflammatory conditions. The DNA damage response (DDR), in turn, coordinates DNA damage checkpoint activation and promotes the removal of DNA lesions. In recent years, several studies have shown [...] Read more.
DNA damage is the cause of numerous human pathologies including cancer, premature aging, and chronic inflammatory conditions. The DNA damage response (DDR), in turn, coordinates DNA damage checkpoint activation and promotes the removal of DNA lesions. In recent years, several studies have shown how the DDR and the immune system are tightly connected, revealing an important crosstalk between the two of them. This interesting interplay has opened up new perspectives in clinical studies for immunological diseases as well as for cancer treatment. In this review, we provide an overview, from cellular to molecular pathways, on how DDR and the immune system communicate and share the crucial commitment of maintaining the genomic fitness. Full article
(This article belongs to the Special Issue DNA Repair in Human Disease)
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