Genetic predisposition to melanoma |
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| Affiliation: | 1. Institute of Biomedical Sciences, Federal University of Alfenas, zip code 37130-001, Alfenas, MG, Brazil;2. Institute of Chemistry, Federal University of Alfenas, zip code 37130-001, Alfenas, MG, Brazil;3. Institute of Chemistry, Federal University of Goiás, zip code 740011-970, Goiânia, GO, Brazil;4. Department of Genetics, Federal University of Parana, zip code 80060-000, Curitiba, PR, Brazil;5. Waters Technologies of Brazil, zip code 06455-020, Barueri, SP, Brazil;1. Department of Hematooncology, University Hospital Ostrava, 17. listopadu 1790, 708 52 Ostrava, Czech Republic;2. Faculty of Medicine, University of Ostrava, Syllabova 19, 703 00 Ostrava, Czech Republic |
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| Abstract: | Malignant melanoma is a rare, often fatal form of skin cancer with a complex multigenic etiology. The incidence of melanoma is increasing at an alarming rate. A number of heritable factors contribute to a patient’s overall melanoma risk, including response to ultraviolet light, nevus number, and pigmentation characteristics, such as eye and hair color. Approximately 5%–10% of melanoma cases are familial, yet the majority of familial cases lack identifiable germ-line mutations in known susceptibility genes. Additionally, most familial melanomas lack germ-line mutations in genes that are commonly mutated in sporadic melanoma. Candidate and systematic genome-wide association studies have led to an improved understanding of the risk factors for melanoma and the identification of susceptibility genes. In this review, we provide an overview of the major risk factors and known genes implicated in familial melanoma susceptibility. |
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| Keywords: | Familial Tumor suppressor Pigmentation Telomere |
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