Semantic Scholar Open Access 2015 36 sitasi

Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma

S. Puig M. Potrony F. Cuéllar J. Puig-Butillé C. Carrera +35 lainnya

Lihat Sumber DOI

Abstrak

Purpose:CDKN2A is the main high-risk melanoma-susceptibility gene, but it has been poorly assessed in Latin America. We sought to analyze CDKN2A and MC1R in patients from Latin America with familial and sporadic multiple primary melanoma (SMP) and compare the data with those for patients from Spain to establish bases for melanoma genetic counseling in Latin America.Methods:CDKN2A and MC1R were sequenced in 186 Latin American patients from Argentina, Brazil, Chile, Mexico, and Uruguay, and in 904 Spanish patients. Clinical and phenotypic data were obtained.Results:Overall, 24 and 14% of melanoma-prone families in Latin America and Spain, respectively, had mutations in CDKN2A. Latin American families had CDKN2A mutations more frequently (P = 0.014) than Spanish ones. Of patients with SMP, 10% of those from Latin America and 8.5% of those from Spain had mutations in CDKN2A (P = 0.623). The most recurrent CDKN2A mutations were c.-34G>T and p.G101W. Latin American patients had fairer hair (P = 0.016) and skin (P < 0.001) and a higher prevalence of MC1R variants (P = 0.003) compared with Spanish patients.Conclusion:The inclusion criteria for genetic counseling of melanoma in Latin America may be the same criteria used in Spain, as suggested in areas with low to medium incidence, SMP with at least two melanomas, or families with at least two cases among first- or second-degree relatives.Genet Med 18 7, 727–736.

Topik & Kata Kunci

Medicine

Penulis (40)

S. Puig

M. Potrony

F. Cuéllar

J. Puig-Butillé

C. Carrera

P. Aguilera

E. Nagore

Z. García-Casado

C. Requena

Rajiv Kumar

G. Landman

Bianca Costa Soares de Sá

Gisele Gargantini Rezze

Luciana Facure

Alexandre Leon Ribeiro de Ávila

M. Achatz

D. Carraro

J. D. Duprat Neto

T. C. Grazziotin

R. Bonamigo

M. Rey

Claudia Balestrini

E. Morales

M. Molgó

R. Bakos

P. Ashton-Prolla

R. Giugliani

A. Larre Borges

V. Barquet

Javiera Pérez

Miguel Ángel Martínez

H. Cabo

E. C. Cohen Sabban

Clara Latorre

Blanca Carlos-Ortega

J. Salas-Alanis

R. González

Z. Olazarán

J. Malvehy

C. Badenas

Format Sitasi

APA MLA BibTeX

Puig, S., Potrony, M., Cuéllar, F., Puig-Butillé, J., Carrera, C., Aguilera, P. et al. (2015). Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma. https://doi.org/10.1038/gim.2015.160

Akses Cepat

Lihat di Sumber doi.org/10.1038/gim.2015.160

Informasi Jurnal

Tahun Terbit: 2015
Bahasa: en
Total Sitasi: 36×
Sumber Database: Semantic Scholar
DOI: 10.1038/gim.2015.160
Akses: Open Access ✓