Neoplasma Vol.71, No.2, p. 143–152, 2024
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| Title: Copy number variations in malignant melanoma: genomic regions, biomarkers, and therapeutic targets |
| Author: Eva Lukáčová, Ondrej Pös, Eva Túryová, Tatiana Hurtová, Zuzana Hanzlíková, Tomas Szemes, Tatiana Burjanivová |
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Abstract: Malignant melanoma is a skin tumor arising from melanocytes, occurring mostly in predisposed individuals. Melanomas are frequently present with copy number variations (CNVs), i.e., gains or losses of specific DNA regions that have provided immense potential for disease diagnosis and classification. The methodology of CNV detection has revolutionized in past decades, and current high throughput technologies enable us to analyze the entire spectrum of CNV alterations at the whole genome scale. Thus, identifying novel CNV biomarkers and evaluating their applicability in biomedicine are becoming increasingly important. The aim of this review was to summarize copy number changes occurring in malignant melanomas. We made an overview of specific genes and chromosomal locations affected in sporadic and familial melanoma and also of known germline alterations in melanoma-prone families. We summarized genomic regions aberrant in malignant melanoma and highlighted those frequently discussed in the literature, suggesting 7q, 11q, 12q, 9p, and 1q, but also others, as the most affected ones.
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| Keywords: malignant melanoma; copy number variation; genomic disorder; structural variation |
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Published online: 20-May-2024
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| Year: 2024, Volume: 71, Issue: 2 |
Page From: 143, Page To: 152 |
doi:10.4149/neo_2024_240207N58
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