Identification of new predictive markers in melanoma is of great clinical importance. This study was aimed to analyze association between selected common variants in the cancer susceptibility genes and melanoma progression at the time of diagnosis. The study included 243 consecutive patients with melanoma. Genotyping was performed using real-time PCR. Our data revealed modest association between xeroderma pigmentosum complementation group D (XPD) codon 312 polymorphism and tumor thickness (as defined by Breslow score; XPD D312N CC: 3.00 ± 3.78mm, CT: 1.71 ± 2.48mm, TT: 2,53 ± 3,24mm, P=0.023). The CT genotype in XPD D312N polymorphism was more frequently represented in non-invasive melanomas compared to deeply penetrating tumors. None of the common SNPs in cyclin dependent kinase inhibitor 2A (CDKN2A), vitamin D receptor (VDR), melanocortin 1 receptor (MC1R) were associated with Breslow depth. These findings suggest that genetic alteration in XPD contributes to melanoma progression and may be a potential diagnostic and molecular prognostic marker.
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http://dx.doi.org/10.7150/jca.26404 | DOI Listing |
Thousands of regulatory noncoding RNAs (ncRNAs) have been annotated; however, their functions in gene regulation and contributions to cancer formation remain poorly understood. To gain a better understanding of the influence of ncRNAs on gene regulation during melanoma progression, we mapped the landscape of ncRNAs in melanocytes and melanoma cells. Nearly half of deregulated genes in melanoma are ncRNAs, with antisense RNAs (asRNAs) comprising a large portion of deregulated ncRNAs.
View Article and Find Full Text PDFRecent studies indicate that the development of drug resistance and increased invasiveness in melanoma is largely driven by transcriptional plasticity rather than canonical coding mutations. Understanding the mechanisms behind cell identity shifts in oncogenic transformation and cancer progression is crucial for advancing our understanding of melanoma and other aggressive cancers. While distinct melanoma phenotypic states have been well characterized, the processes and transcriptional controls that enable cells to shift between these states remain largely unknown.
View Article and Find Full Text PDFWithin cells multiple related transcription factors targeting the same sequences may co-exist, leading to potential regulatory cooperativity, redundancy or competition. Yet the differential roles and biological functions of co-targeting transcription factors is poorly understood. In melanoma, three highly-related transcription factors are co-expressed: The mTORC1-regulated TFEB and TFE3, that are key effectors of a wide range of metabolic and microenvironmental cues; and MITF, that controls melanoma phenotypic identity.
View Article and Find Full Text PDFJ Immunother Cancer
January 2025
Department of Microbiology and Immunology, McGill University, Montreal, Quebec, Canada
Background: Immune checkpoint inhibitors targeting programmed cell death protein-1 (PD-1) are the first line of treatment for many solid tumors including melanoma. PD-1 blockade enhances the effector functions of melanoma-infiltrating CD8 T cells, leading to durable tumor remissions. However, 55% of patients with melanoma do not respond to treatment.
View Article and Find Full Text PDFTurk J Biol
October 2024
Department of Genetics and Bioengineering, Faculty of Engineering, Yeditepe University, İstanbul, Turkiye.
Background/aim: Melanoma arises from the uncontrolled multiplication of melanocytes, and poses an escalating global health concern. Despite the importance of early detection and surgical removal for effective treatment, metastatic melanoma poses treatment challenges, with limited options. Among optional therapies, including chemotherapy and immunotherapy, all-trans retinoic acid (ATRA), a natural metabolite of vitamin A, has shown promise in treating melanoma by inducing differentiation, apoptosis, growth arrest, and immune modulation in melanoma cells.
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