Genetics and Genomics in Cancer

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: 20 June 2026 | Viewed by 1031

Special Issue Editor


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Guest Editor
1. Versiti Blood Center of Wisconsin, Milwaukee, WI, USA
2. Department of Pathology and Anatomical Sciences, The University at Buffalo, Buffalo, NY, USA
Interests: hematopathology; hematology; molecular genetics; anatomic pathology; clinical pathology; cancer
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Special Issue Information

Dear Colleagues,

Scientific advances in genetics and genomics related to cancer are among the most important achievements of the 21st century, impacting how we diagnose and treat human diseases. These breakthroughs primarily led to the era of precision medicine in cancer, enabling accurate diagnosis, prognosis assessment, and targeted therapies for both hematologic and non-hematologic cancers. Cancer has been the second leading cause of death worldwide from 1990 to 2023, except in 2021, when respiratory infections caused more deaths. According to the Global Burden of Cancer 2023 study, an estimated 18.5 million new cancer cases and 10.4 million cancer-related deaths occurred in 2023, including non-melanoma skin cancers. These numbers are expected to increase through 2050, especially in low-resource regions experiencing disproportionate rises in new cases and fatalities. In both males and females combined, the highest burden of new cancer cases was due to (1) breast cancer, (2) tracheal, bronchial, and lung cancers, and (3) colon and rectal cancers, each with about 2.3 million cases, followed by prostate cancer (1.41 million) and stomach cancer (1.26 million). Tracheal, bronchus, and lung cancers accounted for the highest number of deaths (2.04 million), followed by colon and rectum cancers (1.11 million), stomach cancer (935,000), breast cancer (778,000), and esophageal cancer (577,000). Between 1990 and 2023, age-standardized mortality rates from cancer decreased by 23%. However, this decline was only observed in upper-middle-income and high-income groups, while lower-income groups saw an increase in age-standardized mortality rates, emphasizing the need for global healthcare equity. This Special Issue invites articles on any aspect of genetics and genomics related to any cancer.

Dr. Rina Kansal
Guest Editor

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Keywords

  • solid tumors
  • breast cancer
  • colon cancer
  • lung cancer
  • prostate cancer
  • gastrointestinal, gynecologic cancer
  • genitourinary cancers
  • brain tumors
  • hematolymphoid neoplasms
  • myeloid neoplasms
  • lymphoid neoplasms
  • hereditary cancer
  • precision medicine

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Published Papers (1 paper)

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Research

14 pages, 433 KB  
Article
Analysis of the rs3807135, rs3757385 and rs3778754 Variants of the IRF5 Gene and mRNA Expression in Patients with Melanoma Cancer from Western Mexico
by Claudia A. Tapia-Leyva, Fernando Valdez-Salazar, Luis A. Jiménez-Del Río, Jorge R. Padilla-Gutiérrez, José F. Muñoz-Valle and Emmanuel Valdés-Alvarado
Genes 2026, 17(3), 254; https://doi.org/10.3390/genes17030254 - 24 Feb 2026
Viewed by 538
Abstract
Objective: To analyze the association between the IRF5 gene variants rs3807135, rs3757385, and rs3778754 and mRNA expression levels in patients from western Mexico diagnosed with melanoma. Methods: An analytical cross-sectional study was conducted including 374 individuals (153 patients with newly diagnosed melanoma and [...] Read more.
Objective: To analyze the association between the IRF5 gene variants rs3807135, rs3757385, and rs3778754 and mRNA expression levels in patients from western Mexico diagnosed with melanoma. Methods: An analytical cross-sectional study was conducted including 374 individuals (153 patients with newly diagnosed melanoma and no previous treatment, and 221 controls). The melanoma group was matched to the reference group. Genotyping of the rs3807135 (T>C), rs3757385 (T>G), and rs3778754 (C>G) variants was performed using the allelic discrimination method with TaqMan® probes. Relative mRNA expression was quantified by qPCR using the 2–ΔΔCT method, comparing IRF5 expression levels with those of the housekeeping gene GAPDH. Statistical analyses were performed in R, and allelic and genotypic frequencies were compared between patients and controls using the Chi-square test. Results: No statistically significant associations were identified between IRF5 SNVs rs3807135, rs3757385, and rs3778754 and melanoma risk. The haplotypic pattern comprised TTC, CGG, and CGC, with CGG showing a non-significant protective tendency. The mean relative expression of IRF5 was lower in melanoma patients compared with controls (≈0.39 vs. 1.0; Δ = 0.61), although this difference did not reach statistical significance (U = 1725; p = 0.841). These findings suggest a modest modulatory effect of IRF5 at the haplotypic level, likely driven by combined variant effects. Conclusions: In conclusion, the present study did not identify statistically significant associations between the IRF5 single-nucleotide variants rs3807135, rs3757385, and rs3778754 and melanoma risk in the analyzed population from western Mexico. Likewise, no significant differences in allele or genotype distributions were observed between melanoma patients and control individuals. These findings suggest that the evaluated IRF5 genetic variants do not constitute major susceptibility factors for melanoma in this cohort. Full article
(This article belongs to the Special Issue Genetics and Genomics in Cancer)
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