Show simple item record

AuthorSerman, Nikola
AuthorVranic, Semir
AuthorGlibo, Mislav
AuthorSerman, Ljiljana
AuthorBukvic Mokos, Zrinka
Available date2022-04-27T06:55:49Z
Publication Date2022-04-21
Publication NameBosnian Journal of Basic Medical Science (BJBMS)
Identifierhttp://dx.doi.org/10.17305/bjbms.2021.7378
CitationSerman N, Vranic S, Glibo M, Serman L, Bukvic Mokos Z. Genetic risk factors in melanoma etiopathogenesis and the role of genetic counseling: A concise review. Bosn J Basic Med Sci. 2022 Apr 21. doi: 10.17305/bjbms.2021.7378.
ISSN1512-8601
URIhttp://hdl.handle.net/10576/30687
AbstractMelanoma 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.
Languageen
PublisherAssociation of Basic Medical Sciences of Federation of Bosnia and Herzegovina
Subjectmelanoma
genetics
hereditary syndromes
genetic counseling
TitleGenetic risk factors in melanoma etiopathogenesis and the role of genetic counseling: A concise review.
TypeArticle Review
ESSN1840-4812
dc.accessType Open Access


Files in this item

Thumbnail

This item appears in the following Collection(s)

Show simple item record