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The Impact of Cancer Predisposition on Tumor Biology and Treatment
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The Impact of Cancer Predisposition on Tumor Biology and Treatment

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 (31 October 2020) | Viewed by 23541

Special Issue Editors

Dr. Riccardo Spizzo

E-Mail
Guest Editor
Department of Translational Research, IRCCS CRO Aviano-National Cancer Institute, Aviano, Italy
Interests: cancer; non-coding RNAs; tumor predisposition; genetic editing; gynaecological tumours
Dr. Alvaro Monteiro

E-Mail Website
Guest Editor
Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL 33612, USA
Interests: cancer susceptibility; cancer genetics and genomics; functional analysis of susceptibility loci

Special Issue Information

 Dear Colleagues,

Topic background: Investigations on the mechanisms involved in cancer predisposition (e.g., studying families with high incidence of cancer; viral oncogenes) have led to the discovery of tumor suppressor genes and oncogenes. The identification of tumor suppressor genes, such as BRCA1 and 2, has allowed the discovery of the role of the DNA damage network in cancer and has opened the way to exploiting this knowledge in cancer therapy. Recently, much attention has been given to identifying low penetrance/frequent variants (e.g., GWAS) associated with cancer risk. However, very few associated loci have been functionally dissected, and the mechanistic underpinnings of risk for most loci remain elusive.

Scope: The present Special Issue aims to describe past, present, and possible future approaches to identify DNA regions and genes involved in cancer predisposition. It also aims to give a perspective on possible approaches to investigate the impact of genomic regions associated with cancer predisposition. Finally, this Special Issue aims to describe past, present, and potentially future examples of how cancer predisposition may impact anti-tumor therapies.

Sub-topics of the Special Issue:

1. Finding genomic regions and genes involved in cancer predisposition and risk

  1. High-penetrance/rare variant genes (mostly isolated through linkage and positional cloning)
  2. GWAS
  3. TWAS (transcriptome-wide association study)
  4. Genotyping versus sequencing approaches
  5. eQTL (exploitation of TCGA and GTEx initiatives, others?)
  6. Exploiting public databases (TCGA, GWAS catalog, GEO datasets,...)

2. Exploring the role of genomic regions and genes associated with cancer predisposition and risk in cancer biology and tumor progression

  1. Cell-autonomous vs non-cell-autonomous mechanisms
  2. Role of transcripts versus DNA regulatory regions
  3. Tools to investigate the role of genomic regions and genes
  1. Genome editing
  2. Non-coding DNA and cancer predisposition: impact on gene regulation
  3. Chromatin modeling (3C, etc., based on the fact that the majority of SNPs associated with cancer predisposition are intergenic)
  4. Epigenetics (based on the fact that the majority of SNPs associated with cancer predisposition are intergenic)
  5. Animal models and cell line models to explore the role of genomic regions and genes associated with cancer predisposition and risk in cancer biology

3. Impact of germline mutations/variations of genes associated with cancer predisposition and antitumor therapy

  1. PARP inhibitors
  2. Exploring some combination therapies with potential use in these tumors (e.g. PLK1, CHK1 inhibitors for example)
  3. Prevention measures (e.g. chemoprevention)
  4. …

Dr. Riccardo Spizzo
Dr. Alvaro Monteiro
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. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

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Published Papers (4 papers)

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Research

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18 pages, 740 KiB  
Article
A Possible Link of Genetic Variations in ER/IGF1R Pathway and Risk of Melanoma
by Tze-An Yuan, Vandy Yourk, Ali Farhat, Katherine L. Guo, Angela Garcia, Frank L. Meyskens and Feng Liu-Smith
Int. J. Mol. Sci. 2020, 21(5), 1776; https://doi.org/10.3390/ijms21051776 - 5 Mar 2020
Cited by 11 | Viewed by 3655
Abstract
The mechanism of gender disparity in cutaneous melanoma incidence remains unclear. Steroid hormones including estrogens have long been implicated in the course of melanoma, but the conclusion is controversial. Estrogen receptors (ERs) and insulin-like growth factor 1 receptor (IGF1R) show extensive crosstalk in [...] Read more.
The mechanism of gender disparity in cutaneous melanoma incidence remains unclear. Steroid hormones including estrogens have long been implicated in the course of melanoma, but the conclusion is controversial. Estrogen receptors (ERs) and insulin-like growth factor 1 receptor (IGF1R) show extensive crosstalk in cancer development, but how the ER/IGF1R network impacts melanoma is currently unclear. Here we studied the melanoma associations of selected SNPs from the ER/IGF1R network. Part of the International Genes, Environment, and Melanoma (GEM) cohort was used as a discovery set, and the Gene Environment Association Studies Initiative (GENEVA) dataset served as a validation set. Based on the associations with other malignant disease conditions, thirteen single nucleotide polymorphism (SNP) variants in ESR1, ESR2, IGF1, and IGF1R were selected for candidate gene association analyses. The rs1520220 in IGF1 and rs2229765 in IGF1R variants were significantly associated with melanoma risk in the GEM dataset after Benjamini-Hochberg multiple comparison correction, although they were not validated in the GENEVA set. The discrepancy may be caused by the multiple melanoma characteristics in the GEM patients. Further analysis of gender disparity was carried out for IGF1 and IGF1R SNPs in the GEM dataset. The GG phenotype in IGF1 rs1520220 (recessive model) presented an increased risk of melanoma (OR = 8.11, 95% CI: 2.20, 52.5, p = 0.006) in men but a significant opposite effect in women (OR = 0.15, 95% CI: 0.018, 0.86, p = 0.045). The AA genotype in IGF1R rs2229765 (recessive model) showed a significant protective effect in men (OR = 0.24, 95% CI: 0.07, 0.64, p = 0.008) and no effect in women. Results from the current study are warranted for further validation. Full article
(This article belongs to the Special Issue The Impact of Cancer Predisposition on Tumor Biology and Treatment)
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Review

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25 pages, 1516 KiB  
Review
Editing and Chemical Modifications on Non-Coding RNAs in Cancer: A New Tale with Clinical Significance
by Ligia I. Torsin, George E. D. Petrescu, Alexandru A. Sabo, Baoqing Chen, Felix M. Brehar, Mihnea P. Dragomir and George A. Calin
Int. J. Mol. Sci. 2021, 22(2), 581; https://doi.org/10.3390/ijms22020581 - 8 Jan 2021
Cited by 32 | Viewed by 5678
Abstract
Currently, for seemingly every type of cancer, dysregulated levels of non-coding RNAs (ncRNAs) are reported and non-coding transcripts are expected to be the next class of diagnostic and therapeutic tools in oncology. Recently, alterations to the ncRNAs transcriptome have emerged as a novel [...] Read more.
Currently, for seemingly every type of cancer, dysregulated levels of non-coding RNAs (ncRNAs) are reported and non-coding transcripts are expected to be the next class of diagnostic and therapeutic tools in oncology. Recently, alterations to the ncRNAs transcriptome have emerged as a novel hallmark of cancer. Historically, ncRNAs were characterized mainly as regulators and little attention was paid to the mechanisms that regulate them. The role of modifications, which can control the function of ncRNAs post-transcriptionally, only recently began to emerge. Typically, these modifications can be divided into reversible (i.e., chemical modifications: m5C, hm5C, m6A, m1A, and pseudouridine) and non-reversible (i.e., editing: ADAR dependent, APOBEC dependent and ADAR/APOBEC independent). The first research papers showed that levels of these modifications are altered in cancer and can be part of the tumorigenic process. Hence, the aim of this review paper is to describe the most common regulatory modifications (editing and chemical modifications) of the traditionally considered “non-functional” ncRNAs (i.e., microRNAs, long non-coding RNAs and circular RNAs) in the context of malignant disease. We consider that only by understanding this extra regulatory layer it is possible to translate the knowledge about ncRNAs and their modifications into clinical practice. Full article
(This article belongs to the Special Issue The Impact of Cancer Predisposition on Tumor Biology and Treatment)
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29 pages, 2068 KiB  
Review
HRness in Breast and Ovarian Cancers
by Elizabeth Santana dos Santos, François Lallemand, Ambre Petitalot, Sandrine M. Caputo and Etienne Rouleau
Int. J. Mol. Sci. 2020, 21(11), 3850; https://doi.org/10.3390/ijms21113850 - 28 May 2020
Cited by 15 | Viewed by 5168
Abstract
Ovarian and breast cancers are currently defined by the main pathways involved in the tumorigenesis. The majority are carcinomas, originating from epithelial cells that are in constant division and subjected to cyclical variations of the estrogen stimulus during the female hormonal cycle, therefore [...] Read more.
Ovarian and breast cancers are currently defined by the main pathways involved in the tumorigenesis. The majority are carcinomas, originating from epithelial cells that are in constant division and subjected to cyclical variations of the estrogen stimulus during the female hormonal cycle, therefore being vulnerable to DNA damage. A portion of breast and ovarian carcinomas arises in the context of DNA repair defects, in which genetic instability is the backdrop for cancer initiation and progression. For these tumors, DNA repair deficiency is now increasingly recognized as a target for therapeutics. In hereditary breast/ovarian cancers (HBOC), tumors with BRCA1/2 mutations present an impairment of DNA repair by homologous recombination (HR). For many years, BRCA1/2 mutations were only screened on germline DNA, but now they are also searched at the tumor level to personalize treatment. The reason of the inactivation of this pathway remains uncertain for most cases, even in the presence of a HR-deficient signature. Evidence indicates that identifying the mechanism of HR inactivation should improve both genetic counseling and therapeutic response, since they can be useful as new biomarkers of response. Full article
(This article belongs to the Special Issue The Impact of Cancer Predisposition on Tumor Biology and Treatment)
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28 pages, 362 KiB  
Review
Genetic Predisposition to Breast and Ovarian Cancers: How Many and Which Genes to Test?
by Davide Angeli, Samanta Salvi and Gianluca Tedaldi
Int. J. Mol. Sci. 2020, 21(3), 1128; https://doi.org/10.3390/ijms21031128 - 8 Feb 2020
Cited by 71 | Viewed by 8410
Abstract
Breast and ovarian cancers are some of the most common tumors in females, and the genetic predisposition is emerging as one of the key risk factors in the development of these two malignancies. BRCA1 and BRCA2 are the best-known genes associated with hereditary [...] Read more.
Breast and ovarian cancers are some of the most common tumors in females, and the genetic predisposition is emerging as one of the key risk factors in the development of these two malignancies. BRCA1 and BRCA2 are the best-known genes associated with hereditary breast and ovarian cancer. However, recent advances in molecular techniques, Next-Generation Sequencing in particular, have led to the identification of many new genes involved in the predisposition to breast and/or ovarian cancer, with different penetrance estimates. TP53, PTEN, STK11, and CDH1 have been identified as high penetrance genes for the risk of breast/ovarian cancers. Besides them, PALB2, BRIP1, ATM, CHEK2, BARD1, NBN, NF1, RAD51C, RAD51D and mismatch repair genes have been recognized as moderate and low penetrance genes, along with other genes encoding proteins involved in the same pathways, possibly associated with breast/ovarian cancer risk. In this review, we summarize the past and more recent findings in the field of cancer predisposition genes, with insights into the role of the encoded proteins and the associated genetic disorders. Furthermore, we discuss the possible clinical utility of genetic testing in terms of prevention protocols and therapeutic approaches. Full article
(This article belongs to the Special Issue The Impact of Cancer Predisposition on Tumor Biology and Treatment)
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