Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Fargnoli, MC; Argenziano, G; Zalaudek, I; Peris, K.
High- and low-penetrance cutaneous melanoma susceptibility genes.
EXPERT REV ANTICANCER THER. 2006; 6: 657-670.
Doi: 10.1586/14737140.6.5.657
Web of Science
PubMed
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- Co-Autor*innen der Med Uni Graz
- Zalaudek Iris
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- Abstract:
- The aim of this review is to report the current understanding of the molecular genetics of melanoma predisposition. To date, two high-penetrance melanoma susceptibility genes, cyclin-dependent kinas inhibitor (CDKN)2A on chromosome 9p21 and cyclin-dependent kinase (CDK4) on 12q13, have been identified. Germline inactivating mutations of the CDKN2A gene are the most common cause of inherited susceptibility to melanoma. Worldwide, a few families have been found to harbor CDK4 mutations. However, predisposing alterations to familial melanoma are still unknown in a large proportion of kindreds. Other melanoma susceptibility loci have been mapped through genome-wide linkage analysis, although the putative causal genes at these loci have yet to be identified. Much ongoing research is being focused on the identification of low-penetrance melanoma susceptibility genes that confer a lower melanoma risk with more frequent variations. Specific variants of the MC1R gene have been demonstrated to confer an increase in melanoma risk. In addition, conflicting data are available on other potential low-penetrance genes encoding proteins involved in pigmentation, cell growth and differentiation, DNA repair or detoxifying of metabolites.
- Find related publications in this database (using NLM MeSH Indexing)
- Cyclin-Dependent Kinase 4 - genetics
- DNA Damage - genetics
- DNA Repair - genetics
- Genes, p16 - genetics
- Genetic Predisposition to Disease - genetics
- Humans - genetics
- Melanoma - genetics
- Penetrance - genetics
- Polymorphism, Genetic - genetics
- Proto-Oncogene Proteins B-raf - genetics
- Receptor, Melanocortin, Type 1 - genetics
- Risk Factors - genetics
- Skin Neoplasms - genetics
- Find related publications in this database (Keywords)
- ARF
- BRAF
- CDK4
- CDKN2A
- cutaneous melanoma
- MC1R
- susceptibility genes