EDNRB gene variants and melanoma risk in two southern European populations

Clinical and Experimental Dermatology (Impact Factor: 1.09). 04/2011; 36(7):782 - 787. DOI: 10.1111/j.1365-2230.2011.04062.x


Background. EDNRB gene variants were reported to be associated with melanoma risk in French patients, with the S305N variant showing the highest frequency.
Aim. To verify the S305N association with melanoma risk in an independent larger French population (378 patients, 389 controls); to investigate the role of EDNRB variants in melanoma risk in an Italian population (133 patients, 118 controls); and to explore the association of CDKN2A or CDK4 mutations with the S305N EDNRB variant in a subgroup of patients (59 French, 12 Italian) with a suspected hereditary predisposition to melanoma (familial melanoma, sporadic multiple primary melanoma or melanoma associated with pancreatic cancer).
Methods. The S305N variant was genotyped in the French population, while the EDNRB gene in the Italian population was entirely sequenced.
Results. Overall, there was no significant difference in the frequency of the S305N variant between patients with sporadic melanoma and controls in either the French or the Italian population. However, a significantly higher S305N allele frequency was detected in French patients with a suspected hereditary predisposition to melanoma compared with controls (P = 0.04). In addition, in this subgroup of patients, the S305N allele was also significantly associated with the presence of CDKN2A mutations (P = 0.04).
Conclusions. Our results showed no evidence of association of the S305N EDNRB polymorphism with sporadic melanoma risk in either the French or Italian populations, but there was an indication that EDNRB might be a melanoma-predisposing gene in French patients with a suspected hereditary predisposition to melanoma.

8 Reads
  • [Show abstract] [Hide abstract]
    ABSTRACT: UV radiation is among the most important environmental carcinogens, abundant in sunshine and artificial tanning devices. UV is also among the most important causative factors for the development of melanoma, the most lethal of all UV-induced skin malignancies. Roughly 75,000 people in the United States alone are diagnosed with melanoma and nearly 10,000 die of the disease annually. UV mutations clearly contribute to development of melanoma (1). This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.
    Experimental Dermatology 02/2015; 24(6). DOI:10.1111/exd.12663 · 3.76 Impact Factor

Similar Publications