Cancer Genetics and Genomics

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Molecular and Translational Medicine".

Deadline for manuscript submissions: closed (30 November 2022) | Viewed by 10498

Special Issue Editors


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Guest Editor
Department of Genetics, Genomics and Experimental Pathology, The Oncology Institute "Prof. Dr. Ion Chiricuta", 400015 Cluj-Napoca, Romania
Interests: genomics; biomarkers; target therapy; diagnosis; liquid biopsies

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Guest Editor
Department of Genetics, "Iuliu Hatieganu" University of Medicine and Pharmacy, Cluj-Napoca, Romania and The Oncology Institute "Prof. Dr. Ion Chiricuta", 400015 Cluj-Napoca, Romania
Interests: genomics; genetic disorders; somatic mutations; genetic diagnosis

Special Issue Information

Dear Colleagues,

Cancer is one of the most complex diseases, and its early diagnosis and effective treatment is a permanent challenge. Both genomic and genetic approaches have decisively contributed to a better characterization of the malignant phenotype, the discovery of new biomarkers, and targeted therapies, especially with the advent of new technologies such as next-generation sequencing at both DNA and RNA levels. However, new data are necessary to complete the big puzzle of molecular alterations that underlie cancer development and its treatment resistance. Moreover, new insight into cancer–host cohabitation needs to be decoded in order to better understand if and how the corrupted host cells could be targeted to improve cancer treatment management.

One useful approach in cancer management is to use liquid biopsy for identifying new biomarkers such as specific methylation or mutation patterns, or the presence of gene expression alteration of circulating RNAs (miRNAs, circRNAs, lncRNAs).

As Guest Editors of the Biomedicines Special Issue “Cancer Genomics and Genetics”, we cordially invite you to contribute one or more research or review papers focused on genomic or genetic approaches in cancer. You may send your manuscript at any point from now until the deadline. 

Dr. Ovidiu Balacescu
Dr. Adrian Pavel Trifa
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. Biomedicines is an international peer-reviewed open access monthly 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 2600 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

  • genomics
  • genetics
  • precision medicine
  • biomarkers
  • targeted therapy
  • diagnosis
  • prognosis
  • liquid biopsies
  • mRNA
  • miRNA
  • circRNA
  • lncRNA
  • exosomes
  • DNA
  • cfDNA
  • proteins
  • splicing
  • drugs

Published Papers (4 papers)

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Research

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16 pages, 12815 KiB  
Article
A New Insight into MYC Action: Control of RNA Polymerase II Methylation and Transcription Termination
by Fiorella Scagnoli, Alessandro Palma, Annarita Favia, Claudio Scuoppo, Barbara Illi and Sergio Nasi
Biomedicines 2023, 11(2), 412; https://doi.org/10.3390/biomedicines11020412 - 30 Jan 2023
Cited by 3 | Viewed by 1864
Abstract
MYC oncoprotein deregulation is a common catastrophic event in human cancer and limiting its activity restrains tumor development and maintenance, as clearly shown via Omomyc, an MYC-interfering 90 amino acid mini-protein. MYC is a multifunctional transcription factor that regulates many aspects of transcription [...] Read more.
MYC oncoprotein deregulation is a common catastrophic event in human cancer and limiting its activity restrains tumor development and maintenance, as clearly shown via Omomyc, an MYC-interfering 90 amino acid mini-protein. MYC is a multifunctional transcription factor that regulates many aspects of transcription by RNA polymerase II (RNAPII), such as transcription activation, pause release, and elongation. MYC directly associates with Protein Arginine Methyltransferase 5 (PRMT5), a protein that methylates a variety of targets, including RNAPII at the arginine residue R1810 (R1810me2s), crucial for proper transcription termination and splicing of transcripts. Therefore, we asked whether MYC controls termination as well, by affecting R1810me2S. We show that MYC overexpression strongly increases R1810me2s, while Omomyc, an MYC shRNA, or a PRMT5 inhibitor and siRNA counteract this phenomenon. Omomyc also impairs Serine 2 phosphorylation in the RNAPII carboxyterminal domain, a modification that sustains transcription elongation. ChIP-seq experiments show that Omomyc replaces MYC and reshapes RNAPII distribution, increasing occupancy at promoter and termination sites. It is unclear how this may affect gene expression. Transcriptomic analysis shows that transcripts pivotal to key signaling pathways are both up- or down-regulated by Omomyc, whereas genes directly controlled by MYC and belonging to a specific signature are strongly down-regulated. Overall, our data point to an MYC/PRMT5/RNAPII axis that controls termination via RNAPII symmetrical dimethylation and contributes to rewiring the expression of genes altered by MYC overexpression in cancer cells. It remains to be clarified which role this may have in tumor development. Full article
(This article belongs to the Special Issue Cancer Genetics and Genomics)
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22 pages, 3171 KiB  
Article
A Targeted Proteomics Approach for Screening Serum Biomarkers Observed in the Early Stage of Type I Endometrial Cancer
by Blendi Ura, Valeria Capaci, Michelangelo Aloisio, Giovanni Di Lorenzo, Federico Romano, Giuseppe Ricci and Lorenzo Monasta
Biomedicines 2022, 10(8), 1857; https://doi.org/10.3390/biomedicines10081857 - 2 Aug 2022
Cited by 9 | Viewed by 2907
Abstract
Endometrial cancer (EC) is the most common gynecologic malignancy, and it arises in the inner part of the uterus. Identification of serum biomarkers is essential for diagnosing the disease at an early stage. In this study, we selected 44 healthy controls and 44 [...] Read more.
Endometrial cancer (EC) is the most common gynecologic malignancy, and it arises in the inner part of the uterus. Identification of serum biomarkers is essential for diagnosing the disease at an early stage. In this study, we selected 44 healthy controls and 44 type I EC at tumor stage 1, and we used the Immuno-oncology panel and the Target 96 Oncology III panel to simultaneously detect the levels of 92 cancer-related proteins in serum, using a proximity extension assay. By applying this methodology, we identified 20 proteins, associated with the outcome at binary logistic regression, with a p-value below 0.01 for the first panel and 24 proteins with a p-value below 0.02 for the second one. The final multivariate logistic regression model, combining proteins from the two panels, generated a model with a sensitivity of 97.67% and a specificity of 83.72%. These results support the use of the proposed algorithm after a validation phase. Full article
(This article belongs to the Special Issue Cancer Genetics and Genomics)
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Review

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14 pages, 694 KiB  
Review
Plant-Derived Bioactive Compounds in Colorectal Cancer: Insights from Combined Regimens with Conventional Chemotherapy to Overcome Drug-Resistance
by Laura Ioana Gavrilas, Daniel Cruceriu, Andrei Mocan, Felicia Loghin, Doina Miere and Ovidiu Balacescu
Biomedicines 2022, 10(8), 1948; https://doi.org/10.3390/biomedicines10081948 - 11 Aug 2022
Cited by 17 | Viewed by 2589
Abstract
Acquired drug resistance represents a major clinical problem and one of the biggest limitations of chemotherapeutic regimens in colorectal cancer. Combination regimens using standard chemotherapeutic agents, together with bioactive natural compounds derived from diet or plants, may be one of the most valuable [...] Read more.
Acquired drug resistance represents a major clinical problem and one of the biggest limitations of chemotherapeutic regimens in colorectal cancer. Combination regimens using standard chemotherapeutic agents, together with bioactive natural compounds derived from diet or plants, may be one of the most valuable strategies to overcome drug resistance and re-sensitize chemoresistant cells. In this review, we highlight the effect of combined regimens based on conventional chemotherapeutics in conjunction with well-tolerated plant-derived bioactive compounds, mainly curcumin, resveratrol, and EGCG, with emphasis on the molecular mechanisms associated with the acquired drug resistance. Full article
(This article belongs to the Special Issue Cancer Genetics and Genomics)
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Other

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21 pages, 582 KiB  
Systematic Review
The Role of Circulating Tumor Cells in the Prognosis of Metastatic Triple-Negative Breast Cancers: A Systematic Review of the Literature
by Lorena Alexandra Lisencu, Sebastian Trancă, Eduard-Alexandru Bonci, Andrei Pașca, Carina Mihu, Alexandru Irimie, Oana Tudoran, Ovidiu Balacescu and Ioan Cosmin Lisencu
Biomedicines 2022, 10(4), 769; https://doi.org/10.3390/biomedicines10040769 - 25 Mar 2022
Cited by 5 | Viewed by 2282
Abstract
Breast cancer is one of the leading causes of death in women worldwide. One subtype of breast cancer is the triple-negative, which accounts for 15% of total breast cancer cases and is known for its poor prognosis. The main cause of death is [...] Read more.
Breast cancer is one of the leading causes of death in women worldwide. One subtype of breast cancer is the triple-negative, which accounts for 15% of total breast cancer cases and is known for its poor prognosis. The main cause of death is due to metastasis. Circulating tumor cells (CTCs) play a key role in the metastatic process. CTCs arise either by detaching from the primary tumor or from cancer stem cells undergoing an epithelial-to-mesenchymal transition (EMT). This review aims to present up-to-date data concerning the role of CTC numbers in relation to the prognostic and treatment response in metastatic triple-negative breast cancer (mTNBC) patients, and also to discuss the methods used for CTCs’ identification. A search in the MEDLINE database was performed. A total of 234 articles were identified. The results of the 24 eligible studies showed that positive CTC status is associated with shorter overall survival (OS) and progression-free survival (PFS) in mTNBC patients. Furthermore, a decrease in number of CTCs during therapy seems to be a favorable prognostic factor, making CTCs’ detection an important prognostic tool before and during therapy in mTNBC patients. The methods used for CTC detection are still developing and need further improvement. Full article
(This article belongs to the Special Issue Cancer Genetics and Genomics)
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