Genetic risk factors in melanoma etiopathogenesis and the role of genetic counseling: A concise review.
Journal
Bosnian journal of basic medical sciences
ISSN: 1840-4812
Titre abrégé: Bosn J Basic Med Sci
Pays: Bosnia and Herzegovina
ID NLM: 101200947
Informations de publication
Date de publication:
16 Sep 2022
16 Sep 2022
Historique:
received:
15
04
2022
accepted:
20
04
2022
pubmed:
26
4
2022
medline:
28
9
2022
entrez:
25
4
2022
Statut:
epublish
Résumé
Melanoma is a highly aggressive cancer originating from melanocytes. Its etiopathogenesis is strongly related to genetic, epigenetic, and environmental factors. Melanomas encountered in clinical practice are predominantly sporadic, whereas hereditary melanomas account for approximately 10% of the cases. Hereditary melanomas mainly develop due to mutations in the CDKN2A gene, which encodes two tumor suppressor proteins involved in the cell cycle regulation. CDKN2A, along with CDK4, TERT, and POT1 genes, is a high-risk gene for melanoma. Among the genes that carry a moderate risk are MC1R and MITF, whose protein products are involved in melanin synthesis. The environment also contributes to the development of melanoma. Patients at risk of melanoma should be offered genetic counseling to discuss genetic testing options and the importance of skin UV protection, avoidance of sun exposure, and regular preventive dermatological examinations. Although cancer screening cannot prevent the development of the disease, it allows for early diagnosis when the survival rate is the highest.
Identifiants
pubmed: 35465855
doi: 10.17305/bjbms.2021.7378
pmc: PMC9519167
doi:
Substances chimiques
Melanins
0
Tumor Suppressor Proteins
0
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
673-682Références
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