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Cells
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Cancers: Genetics and Cellular Perspective
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Cancers: Genetics and Cellular Perspective

A special issue of Cells (ISSN 2073-4409). This special issue belongs to the section "Cellular Pathology".

Deadline for manuscript submissions: closed (29 June 2023) | Viewed by 32868

Special Issue Editors

Dr. Amancio Carnero

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Guest Editor
1. Instituto de Biomedicina de Sevilla (IBIS), Hospital Universitario Virgen del Rocío, Universidad de Sevilla, Consejo Superior de Investigaciones Científicas, Avda. Manuel Siurot s/n, 41013 Seville, Spain
2. Centro de Investigación Biomédica en Red de Cáncer, CIBERONC, Instituto de Salud Carlos III, 28029 Madrid, Spain
Interests: identification of new genes involved in cancer, its characterization and traslation to clinic; the identification and validation of new targets for anticancer drug
Special Issues, Collections and Topics in MDPI journals
Dr. Sandra Muñoz-Galván

E-Mail Website
Guest Editor
CIBERONC, Instituto de Salud Carlos III, 28029 Madrid, Spain
Interests: pai-1/serpin e-1; rectal cancer; chemoresistance; therapy; Pim kinases; ovarian cancer; cancer stem cells; therapy resistance; Bladder; Ureteral Urothelial Hyperplasia
Dr. José M. García-Heredia

E-Mail Website
Guest Editor
1. Instituto de Biomedicina de Sevilla (IBIS), Hospital Universitario Virgen del Rocío, Universidad de Sevilla, Consejo Superior de Investigaciones Científicas, Avda. Manuel Siurot s/n, 41013 Seville, Spain
2. Departamento de Bioquímica Vegetal y Biología Molecular, Universidad de Sevilla, Facultad de Biología, Avda. de la Reina Mercedes 6, 41012 Seville, Spain
3. Centro de Investigación Biomédica en Red de Cáncer, CIBERONC, Instituto de Salud Carlos III, 28029 Madrid, Spain
Interests: biochemical molecular biology

Special Issue Information

Dear Colleagues,

In recent years, we have been witnessing unprecedented technological developments in genetics and molecular as well as cellular biology. Methodologies such as CRISPR-Cas9, genomics, transcriptomics, metabolomics, single-cell technologies, super-resolution imaging, organoid cultures, or genome-wide association studies are undoubtedly contributing to remarkable advances in our knowledge on cancer genetics and cell biology. Studies about the interaction of cancer cells with the tumor microenvironment, clonal selection during tumor evolution, genomic instability and mutations, or genome-wide association, among others, are providing new clues to find therapeutic approaches based on personalized medicine.

In this Special Issue, we welcome original research articles and reviews focusing on genetic as well as cellular approaches, providing insights into different aspects of cancer genetics and cellular biology, including, but not limited to, the molecular bases of carcinogenesis, chromosomal instability, mutation rates, the tumor microenvironment, genetic heterogeneity, or therapy resistance. We hope that your contributions will advance this exciting multidisciplinary field.

Dr. Amancio Carnero
Dr. Sandra Muñoz-Galván
Dr. José M. García-Heredia
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. Cells 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 2700 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

  • carcinogenesis
  • mutation rates
  • genomic instability
  • hereditary cancer syndrome
  • genetic heterogeneity
  • clonal selection
  • genome-wide association studies
  • tumor microenvironment

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Published Papers (10 papers)

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Research

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21 pages, 2536 KiB  
Article
In Silico Identification and Functional Characterization of Genetic Variations across DLBCL Cell Lines
by Prashanthi Dharanipragada and Nita Parekh
Cells 2023, 12(4), 596; https://doi.org/10.3390/cells12040596 - 12 Feb 2023
Cited by 1 | Viewed by 1986
Abstract
Diffuse large B-cell lymphoma (DLBCL) is the most common form of non-Hodgkin lymphoma and frequently develops through the accumulation of several genetic variations. With the advancement in high-throughput techniques, in addition to mutations and copy number variations, structural variations have gained importance for [...] Read more.
Diffuse large B-cell lymphoma (DLBCL) is the most common form of non-Hodgkin lymphoma and frequently develops through the accumulation of several genetic variations. With the advancement in high-throughput techniques, in addition to mutations and copy number variations, structural variations have gained importance for their role in genome instability leading to tumorigenesis. In this study, in order to understand the genetics of DLBCL pathogenesis, we carried out a whole-genome mutation profile analysis of eleven human cell lines from germinal-center B-cell-like (GCB-7) and activated B-cell-like (ABC-4) subtypes of DLBCL. Analysis of genetic variations including small sequence variants and large structural variations across the cell lines revealed distinct variation profiles indicating the heterogeneous nature of DLBCL and the need for novel patient stratification methods to design potential intervention strategies. Validation and prognostic significance of the variants was assessed using annotations provided for DLBCL samples in cBioPortal for Cancer Genomics. Combining genetic variations revealed new subgroups between the subtypes and associated enriched pathways, viz., PI3K-AKT signaling, cell cycle, TGF-beta signaling, and WNT signaling. Mutation landscape analysis also revealed drug–variant associations and possible effectiveness of known and novel DLBCL treatments. From the whole-genome-based mutation analysis, our findings suggest putative molecular genetics of DLBCL lymphomagenesis and potential genomics-driven precision treatments. Full article
(This article belongs to the Special Issue Cancers: Genetics and Cellular Perspective)
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19 pages, 8153 KiB  
Article
Molecular Cluster Mining of Adrenocortical Carcinoma via Multi-Omics Data Analysis Aids Precise Clinical Therapy
by Yu Guan, Shaoyu Yue, Yiding Chen, Yuetian Pan, Lingxuan An, Hexi Du and Chaozhao Liang
Cells 2022, 11(23), 3784; https://doi.org/10.3390/cells11233784 - 26 Nov 2022
Cited by 7 | Viewed by 2145
Abstract
Adrenocortical carcinoma (ACC) is a malignancy of the endocrine system. We collected clinical and pathological features, genomic mutations, DNA methylation profiles, and mRNA, lncRNA, microRNA, and somatic mutations in ACC patients from the TCGA, GSE19750, GSE33371, and GSE49278 cohorts. Based on the MOVICS [...] Read more.
Adrenocortical carcinoma (ACC) is a malignancy of the endocrine system. We collected clinical and pathological features, genomic mutations, DNA methylation profiles, and mRNA, lncRNA, microRNA, and somatic mutations in ACC patients from the TCGA, GSE19750, GSE33371, and GSE49278 cohorts. Based on the MOVICS algorithm, the patients were divided into ACC1-3 subtypes by comprehensive multi-omics data analysis. We found that immune-related pathways were more activated, and drug metabolism pathways were enriched in ACC1 subtype patients. Furthermore, ACC1 patients were sensitive to PD-1 immunotherapy and had the lowest sensitivity to chemotherapeutic drugs. Patients with the ACC2 subtype had the worst survival prognosis and the highest tumor-mutation rate. Meanwhile, cell-cycle-related pathways, amino-acid-synthesis pathways, and immunosuppressive cells were enriched in ACC2 patients. Steroid and cholesterol biosynthetic pathways were enriched in patients with the ACC3 subtype. DNA-repair-related pathways were enriched in subtypes ACC2 and ACC3. The sensitivity of the ACC2 subtype to cisplatin, doxorubicin, gemcitabine, and etoposide was better than that of the other two subtypes. For 5-fluorouracil, there was no significant difference in sensitivity to paclitaxel between the three groups. A comprehensive analysis of multi-omics data will provide new clues for the prognosis and treatment of patients with ACC. Full article
(This article belongs to the Special Issue Cancers: Genetics and Cellular Perspective)
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27 pages, 5093 KiB  
Article
Whole Transcriptome Sequencing Reveals Cancer-Related, Prognostically Significant Transcripts and Tumor-Infiltrating Immunocytes in Mantle Cell Lymphoma
by Esra Esmeray Sönmez, Tevfik Hatipoğlu, Deniz Kurşun, Xiaozhou Hu, Burcu Akman, Hongling Yuan, Ayça Erşen Danyeli, İnci Alacacıoğlu, Sermin Özkal, Aybüke Olgun, Taner Kemal Erdağ, Hua You and Can Küçük
Cells 2022, 11(21), 3394; https://doi.org/10.3390/cells11213394 - 27 Oct 2022
Cited by 3 | Viewed by 3136
Abstract
Mantle cell lymphoma (MCL) is an aggressive B-cell non-Hodgkin lymphoma (NHL) subtype characterized by overexpression of CCND1 and SOX11 genes. It is generally associated with clinically poor outcomes despite recent improvements in therapeutic approaches. The genes associated with the development and prognosis of [...] Read more.
Mantle cell lymphoma (MCL) is an aggressive B-cell non-Hodgkin lymphoma (NHL) subtype characterized by overexpression of CCND1 and SOX11 genes. It is generally associated with clinically poor outcomes despite recent improvements in therapeutic approaches. The genes associated with the development and prognosis of MCL are still largely unknown. Through whole transcriptome sequencing (WTS), we identified mRNAs, lncRNAs, and alternative transcripts differentially expressed in MCL cases compared with reactive tonsil B-cell subsets. CCND1, VCAM1, and VWF mRNAs, as well as MIR100HG and ROR1-AS1 lncRNAs, were among the top 10 most significantly overexpressed, oncogenesis-related transcripts. Survival analyses with each of the top upregulated transcripts showed that MCL cases with high expression of VWF mRNA and low expression of FTX lncRNA were associated with poor overall survival. Similarly, high expression of MSTRG.153013.3, an overexpressed alternative transcript, was associated with shortened MCL survival. Known tumor suppressor candidates (e.g., PI3KIP1, UBXN) were significantly downregulated in MCL cases. Top differentially expressed protein-coding genes were enriched in signaling pathways related to invasion and metastasis. Survival analyses based on the abundance of tumor-infiltrating immunocytes estimated with CIBERSORTx showed that high ratios of CD8+ T-cells or resting NK cells and low ratios of eosinophils are associated with poor overall survival in diagnostic MCL cases. Integrative analysis of tumor-infiltrating CD8+ T-cell abundance and overexpressed oncogene candidates showed that MCL cases with high ratio CD8+ T-cells and low expression of FTX or PCA3 can potentially predict high-risk MCL patients. WTS results were cross-validated with qRT-PCR of selected transcripts as well as linear correlation analyses. In conclusion, expression levels of oncogenesis-associated transcripts and/or the ratios of microenvironmental immunocytes in MCL tumors may be used to improve prognostication, thereby leading to better patient management and outcomes. Full article
(This article belongs to the Special Issue Cancers: Genetics and Cellular Perspective)
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22 pages, 2341 KiB  
Article
The Proliferating Cell Nuclear Antigen (PCNA) Transcript Variants as Potential Relapse Markers in B-Cell Acute Lymphoblastic Leukemia
by Vanessa Villegas-Ruíz, Antonio Romo-Mancillas, Isabel Medina-Vera, Kattia Alejandra Castro-López, Josselene Carina Ramirez-Chiquito, Marco Antonio Fonseca-Montaño, Mercedes Edna García-Cruz, Roberto Rivera-Luna, Julieta Griselda Mendoza-Torreblanca and Sergio Juárez-Méndez
Cells 2022, 11(20), 3205; https://doi.org/10.3390/cells11203205 - 12 Oct 2022
Cited by 2 | Viewed by 3188
Abstract
Leukemia is the most common childhood malignancy in Mexico, representing more than 50% of all childhood cancers. Although treatment leads to a survival of up to 90% in developing countries, in our country, it is less than 65%. Additionally, ~30% of patients relapse [...] Read more.
Leukemia is the most common childhood malignancy in Mexico, representing more than 50% of all childhood cancers. Although treatment leads to a survival of up to 90% in developing countries, in our country, it is less than 65%. Additionally, ~30% of patients relapse with poor prognosis. Alternative splicing plays an important role in transcriptome diversity and cellular biology. This mechanism promotes an increase in the assortment of proteins with potentially distinct functions from a single gene. The proliferating cell nuclear antigen (PCNA) gene encodes two transcripts for the same protein of 261 amino acids, which is associated with several important cellular processes and with several types of cancer. However, the diversity of the transcript variants expressed in this condition is not clear. Then, we used microarray gene expression to identify changes in the exon expression level of PCNA. The data were validated using RT-PCR and Sanger sequencing, and three additional transcripts (PCNA_V3, PCNA_V4, and PCNA_V5) were identified. Computational analyses were used to determine the potential proteins resulting, their structure, and interactions with PCNA native protein and themselves. Additionally, the PCNA transcript variants were inhibited using specific siRNA, determining that their inhibition contributes to the malignant characteristics in vitro. Finally, we quantified the PCNA transcript variants in acute lymphoblastic leukemia samples and identified their expression in this disease. Based on the clinical characteristics, we determined that PCNA_V2 and PCNA_V4 are expressed at significantly low levels in relapsed B-ALL patients. We conclude that the low expression of PCNA_V2 and PCNA_V4 could be a potential molecular marker of relapse in acute lymphoblastic leukemia patients. Full article
(This article belongs to the Special Issue Cancers: Genetics and Cellular Perspective)
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15 pages, 1399 KiB  
Article
Locus-Specific Enrichment Analysis of 5-Hydroxymethylcytosine Reveals Novel Genes Associated with Breast Carcinogenesis
by Deepa Ramasamy, Arunagiri Kuha Deva Magendhra Rao, Meenakumari Balaiah, Arvinden Vittal Rangan, Shirley Sundersingh, Sridevi Veluswami, Rajkumar Thangarajan and Samson Mani
Cells 2022, 11(19), 2939; https://doi.org/10.3390/cells11192939 - 20 Sep 2022
Cited by 4 | Viewed by 2116
Abstract
An imbalance in DNA methylation is a hallmark epigenetic alteration in cancer. The conversion of 5-methylcytosine (5-mC) to 5-hydroxymethyl cytosine (5-hmC), which causes the imbalance, results in aberrant gene expression. The precise functional role of 5-hydroxymethylcytosine in breast cancer remains elusive. In this [...] Read more.
An imbalance in DNA methylation is a hallmark epigenetic alteration in cancer. The conversion of 5-methylcytosine (5-mC) to 5-hydroxymethyl cytosine (5-hmC), which causes the imbalance, results in aberrant gene expression. The precise functional role of 5-hydroxymethylcytosine in breast cancer remains elusive. In this study, we describe the landscape of 5-mC and 5-hmC and their association with breast cancer development. We found a distinguishable global loss of 5-hmC in the localized and invasive types of breast cancer that strongly correlate with TET expression. Genome-wide analysis revealed a unique 5-mC and 5-hmC signature in breast cancer. The differentially methylated regions (DMRs) were primarily concentrated in the proximal regulatory regions such as the promoters and UTRs, while the differentially hydroxymethylated regions (DhMRs) were densely packed in the distal regulatory regions, such as the intergenic regions (>−5 kb from TSSs). Our results indicate 4809 DMRs and 4841 DhMRs associated with breast cancer. Validation of nine 5-hmC enriched loci in a distinct set of breast cancer and normal samples positively correlated with their corresponding gene expression. The novel 5-hmC candidates such as TXNL1, and CNIH3 implicate a pro-oncogenic role in breast cancer. Overall, these results provide new insights into the loci-specific accumulation of 5-mC and 5-hmC, which are aberrantly methylated and demethylated in breast cancer. Full article
(This article belongs to the Special Issue Cancers: Genetics and Cellular Perspective)
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14 pages, 12302 KiB  
Article
A Comprehensive Transcriptomic Analysis of Arsenic-Induced Bladder Carcinogenesis
by Vaibhav Shukla, Balaji Chandrasekaran, Ashish Tyagi, Ajit Kumar Navin, Uttara Saran, Rosalyn M. Adam and Chendil Damodaran
Cells 2022, 11(15), 2435; https://doi.org/10.3390/cells11152435 - 5 Aug 2022
Cited by 10 | Viewed by 2638
Abstract
Arsenic (sodium arsenite: NaAsO2) is a potent carcinogen and a known risk factor for the onset of bladder carcinogenesis. The molecular mechanisms that govern arsenic-induced bladder carcinogenesis remain unclear. We used a physiological concentration of NaAsO2 (250 nM: 33 µg/L) for the malignant [...] Read more.
Arsenic (sodium arsenite: NaAsO2) is a potent carcinogen and a known risk factor for the onset of bladder carcinogenesis. The molecular mechanisms that govern arsenic-induced bladder carcinogenesis remain unclear. We used a physiological concentration of NaAsO2 (250 nM: 33 µg/L) for the malignant transformation of normal bladder epithelial cells (TRT-HU1), exposed for over 12 months. The increased proliferation and colony-forming abilities of arsenic-exposed cells were seen after arsenic exposure from 4 months onwards. Differential gene expression (DEG) analysis revealed that a total of 1558 and 1943 (padj < 0.05) genes were deregulated in 6-month and 12-month arsenic-exposed TRT-HU1 cells. The gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) analysis revealed that cell proliferation and survival pathways, such as the MAPK, PI3K/AKT, and Hippo signaling pathways, were significantly altered. Pathway analysis revealed that the enrichment of stem cell activators such as ALDH1A1, HNF1b, MAL, NR1H4, and CDH1 (p < 0.001) was significantly induced during the transformation compared to respective vehicle controls. Further, these results were validated by qPCR analysis, which corroborated the transcriptomic analysis. Overall, the results suggested that stem cell activators may play a significant role in facilitating the arsenic-exposed cells to gain a survival advantage, enabling the healthy epithelial cells to reprogram into a cancer stem cell phenotype, leading to malignant transformation. Full article
(This article belongs to the Special Issue Cancers: Genetics and Cellular Perspective)
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Review

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16 pages, 910 KiB  
Review
Targeting the ‘Undruggable’ Driver Protein, KRAS, in Epithelial Cancers: Current Perspective
by Kuen Kuen Lam, Siew Heng Wong and Peh Yean Cheah
Cells 2023, 12(4), 631; https://doi.org/10.3390/cells12040631 - 15 Feb 2023
Cited by 8 | Viewed by 3060
Abstract
This review summarizes recent development in synthetic drugs and biologics targeting intracellular driver genes in epithelial cancers, focusing on KRAS, and provides a current perspective and potential leads for the field. Compared to biologics, small molecule inhibitors (SMIs) readily penetrate cells, thus being [...] Read more.
This review summarizes recent development in synthetic drugs and biologics targeting intracellular driver genes in epithelial cancers, focusing on KRAS, and provides a current perspective and potential leads for the field. Compared to biologics, small molecule inhibitors (SMIs) readily penetrate cells, thus being able to target intracellular proteins. However, SMIs frequently suffer from pleiotropic effects, off-target cytotoxicity and invariably elicit resistance. In contrast, biologics are much larger molecules limited by cellular entry, but if this is surmounted, they may have more specific effects and less therapy-induced resistance. Exciting breakthroughs in the past two years include engineering of non-covalent KRAS G12D-specific inhibitor, probody bispecific antibodies, drug–peptide conjugate as MHC-restricted neoantigen to prompt immune response by T-cells, and success in the adoptive cell therapy front in both breast and pancreatic cancers. Full article
(This article belongs to the Special Issue Cancers: Genetics and Cellular Perspective)
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19 pages, 2397 KiB  
Review
The Multitasker Protein: A Look at the Multiple Capabilities of NUMB
by Sara M. Ortega-Campos and José Manuel García-Heredia
Cells 2023, 12(2), 333; https://doi.org/10.3390/cells12020333 - 15 Jan 2023
Cited by 4 | Viewed by 3693
Abstract
NUMB, a plasma membrane-associated protein originally described in Drosophila, is involved in determining cell function and fate during early stages of development. It is secreted asymmetrically in dividing cells, with one daughter cell inheriting NUMB and the other inheriting its antagonist, NOTCH. [...] Read more.
NUMB, a plasma membrane-associated protein originally described in Drosophila, is involved in determining cell function and fate during early stages of development. It is secreted asymmetrically in dividing cells, with one daughter cell inheriting NUMB and the other inheriting its antagonist, NOTCH. NUMB has been proposed as a polarizing agent and has multiple functions, including endocytosis and serving as an adaptor in various cellular pathways such as NOTCH, Hedgehog, and the P53-MDM2 axis. Due to its role in maintaining cellular homeostasis, it has been suggested that NUMB may be involved in various human pathologies such as cancer and Alzheimer’s disease. Further research on NUMB could aid in understanding disease mechanisms and advancing the field of personalized medicine and the development of new therapies. Full article
(This article belongs to the Special Issue Cancers: Genetics and Cellular Perspective)
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23 pages, 3168 KiB  
Review
Nicotinamide Adenine Dinucleotide (NAD) Metabolism as a Relevant Target in Cancer
by Lola E. Navas and Amancio Carnero
Cells 2022, 11(17), 2627; https://doi.org/10.3390/cells11172627 - 24 Aug 2022
Cited by 22 | Viewed by 7552
Abstract
NAD+ is an important metabolite in cell homeostasis that acts as an essential cofactor in oxidation–reduction (redox) reactions in various energy production processes, such as the Krebs cycle, fatty acid oxidation, glycolysis and serine biosynthesis. Furthermore, high NAD+ levels are required since they [...] Read more.
NAD+ is an important metabolite in cell homeostasis that acts as an essential cofactor in oxidation–reduction (redox) reactions in various energy production processes, such as the Krebs cycle, fatty acid oxidation, glycolysis and serine biosynthesis. Furthermore, high NAD+ levels are required since they also participate in many other nonredox molecular processes, such as DNA repair, posttranslational modifications, cell signalling, senescence, inflammatory responses and apoptosis. In these nonredox reactions, NAD+ is an ADP-ribose donor for enzymes such as sirtuins (SIRTs), poly-(ADP-ribose) polymerases (PARPs) and cyclic ADP-ribose (cADPRs). Therefore, to meet both redox and nonredox NAD+ demands, tumour cells must maintain high NAD+ levels, enhancing their synthesis mainly through the salvage pathway. NAMPT, the rate-limiting enzyme of this pathway, has been identified as an oncogene in some cancer types. Thus, NAMPT has been proposed as a suitable target for cancer therapy. NAMPT inhibition causes the depletion of NAD+ content in the cell, leading to the inhibition of ATP synthesis. This effect can cause a decrease in tumour cell proliferation and cell death, mainly by apoptosis. Therefore, in recent years, many specific inhibitors of NAMPT have been developed, and some of them are currently in clinical trials. Here we review the NAD metabolism as a cancer therapy target. Full article
(This article belongs to the Special Issue Cancers: Genetics and Cellular Perspective)
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Other

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13 pages, 1271 KiB  
Viewpoint
Immunogenomic Biomarkers and Validation in Lynch Syndrome
by Ramadhani Chambuso, Mbali Mthembu, Eveline Kaambo, Barbara Robertson and Raj Ramesar
Cells 2023, 12(3), 491; https://doi.org/10.3390/cells12030491 - 2 Feb 2023
Cited by 1 | Viewed by 2337
Abstract
Lynch syndrome (LS) is an inherited disorder in which affected individuals have a significantly higher-than-average risk of developing colorectal and non-colorectal cancers, often before the age of 50 years. In LS, mutations in DNA repair genes lead to a dysfunctional post-replication repair system. [...] Read more.
Lynch syndrome (LS) is an inherited disorder in which affected individuals have a significantly higher-than-average risk of developing colorectal and non-colorectal cancers, often before the age of 50 years. In LS, mutations in DNA repair genes lead to a dysfunctional post-replication repair system. As a result, the unrepaired errors in coding regions of the genome produce novel proteins, called neoantigens. Neoantigens are recognised by the immune system as foreign and trigger an immune response. Due to the invasive nature of cancer screening tests, universal cancer screening guidelines unique for LS (primarily colonoscopy) are poorly adhered to by LS variant heterozygotes (LSVH). Currently, it is unclear whether immunogenomic components produced as a result of neoantigen formation can be used as novel biomarkers in LS. We hypothesise that: (i) LSVH produce measurable and dynamic immunogenomic components in blood, and (ii) these quantifiable immunogenomic components correlate with cancer onset and stage. Here, we discuss the feasibility to: (a) identify personalised novel immunogenomic biomarkers and (b) validate these biomarkers in various clinical scenarios in LSVH. Full article
(This article belongs to the Special Issue Cancers: Genetics and Cellular Perspective)
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