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

Susana Puig, Miriam Potrony, Francisco Cuellar, Joan Anton Puig-Butille, Cristina Carrera, Paula Aguilera, Eduardo Nagore, Zaida Garcia-Casado, Celia Requena, Rajiv Kumar, Gilles Landman, Bianca Costa Soares De Sá, Gisele Gargantini Rezze, Luciana Facure, Alexandre Leon Ribeiro De Avila, Maria Isabel Achatz, Dirce Maria Carraro, João Pedreira Duprat Neto, Thais C. Grazziotin, Renan R. BonamigoMaria Carolina W. Rey, Claudia Balestrini, Enrique Morales, Montserrat Molgo, Renato Marchiori Bakos, Patricia Ashton-Prolla, Roberto Giugliani, Alejandra Larre Borges, Virginia Barquet, Javiera Pérez, Miguel Martínez, Horacio Cabo, Emilia Cohen Sabban, Clara Latorre, Blanca Carlos-Ortega, Julio C. Salas-Alanis, Roger Gonzalez, Zulema Olazaran, Josep Malvehy, Celia Badenas

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

© American College of Medical Genetics and Genomics. 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.
Original languageEnglish
Pages (from-to)727-736
Number of pages10
JournalGenetics in Medicine
Volume18
Issue number7
DOIs
Publication statusPublished - 1 Jul 2016

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Latin America
Genetic Counseling
Melanoma
Spain
Mutation
Uruguay
Chile
Argentina
Genomics
Mexico
Hair
Brazil
Skin
Incidence

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)

Cite this

Puig, S., Potrony, M., Cuellar, F., Puig-Butille, J. A., Carrera, C., Aguilera, P., ... Badenas, C. (2016). Characterization of individuals at high risk of developing melanoma in Latin America: Bases for genetic counseling in melanoma. Genetics in Medicine, 18(7), 727-736. https://doi.org/10.1038/gim.2015.160
Puig, Susana ; Potrony, Miriam ; Cuellar, Francisco ; Puig-Butille, Joan Anton ; Carrera, Cristina ; Aguilera, Paula ; Nagore, Eduardo ; Garcia-Casado, Zaida ; Requena, Celia ; Kumar, Rajiv ; Landman, Gilles ; Costa Soares De Sá, Bianca ; Gargantini Rezze, Gisele ; Facure, Luciana ; De Avila, Alexandre Leon Ribeiro ; Achatz, Maria Isabel ; Carraro, Dirce Maria ; Duprat Neto, João Pedreira ; Grazziotin, Thais C. ; Bonamigo, Renan R. ; Rey, Maria Carolina W. ; Balestrini, Claudia ; Morales, Enrique ; Molgo, Montserrat ; Bakos, Renato Marchiori ; Ashton-Prolla, Patricia ; Giugliani, Roberto ; Larre Borges, Alejandra ; Barquet, Virginia ; Pérez, Javiera ; Martínez, Miguel ; Cabo, Horacio ; Cohen Sabban, Emilia ; Latorre, Clara ; Carlos-Ortega, Blanca ; Salas-Alanis, Julio C. ; Gonzalez, Roger ; Olazaran, Zulema ; Malvehy, Josep ; Badenas, Celia. / Characterization of individuals at high risk of developing melanoma in Latin America: Bases for genetic counseling in melanoma. In: Genetics in Medicine. 2016 ; Vol. 18, No. 7. pp. 727-736.
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abstract = "{\circledC} American College of Medical Genetics and Genomics. 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.",
author = "Susana Puig and Miriam Potrony and Francisco Cuellar and Puig-Butille, {Joan Anton} and Cristina Carrera and Paula Aguilera and Eduardo Nagore and Zaida Garcia-Casado and Celia Requena and Rajiv Kumar and Gilles Landman and {Costa Soares De S{\'a}}, Bianca and {Gargantini Rezze}, Gisele and Luciana Facure and {De Avila}, {Alexandre Leon Ribeiro} and Achatz, {Maria Isabel} and Carraro, {Dirce Maria} and {Duprat Neto}, {Jo{\~a}o Pedreira} and Grazziotin, {Thais C.} and Bonamigo, {Renan R.} and Rey, {Maria Carolina W.} and Claudia Balestrini and Enrique Morales and Montserrat Molgo and Bakos, {Renato Marchiori} and Patricia Ashton-Prolla and Roberto Giugliani and {Larre Borges}, Alejandra and Virginia Barquet and Javiera P{\'e}rez and Miguel Mart{\'i}nez and Horacio Cabo and {Cohen Sabban}, Emilia and Clara Latorre and Blanca Carlos-Ortega and Salas-Alanis, {Julio C.} and Roger Gonzalez and Zulema Olazaran and Josep Malvehy and Celia Badenas",
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Puig, S, Potrony, M, Cuellar, F, Puig-Butille, JA, Carrera, C, Aguilera, P, Nagore, E, Garcia-Casado, Z, Requena, C, Kumar, R, Landman, G, Costa Soares De Sá, B, Gargantini Rezze, G, Facure, L, De Avila, ALR, Achatz, MI, Carraro, DM, Duprat Neto, JP, Grazziotin, TC, Bonamigo, RR, Rey, MCW, Balestrini, C, Morales, E, Molgo, M, Bakos, RM, Ashton-Prolla, P, Giugliani, R, Larre Borges, A, Barquet, V, Pérez, J, Martínez, M, Cabo, H, Cohen Sabban, E, Latorre, C, Carlos-Ortega, B, Salas-Alanis, JC, Gonzalez, R, Olazaran, Z, Malvehy, J & Badenas, C 2016, 'Characterization of individuals at high risk of developing melanoma in Latin America: Bases for genetic counseling in melanoma', Genetics in Medicine, vol. 18, no. 7, pp. 727-736. https://doi.org/10.1038/gim.2015.160

Characterization of individuals at high risk of developing melanoma in Latin America: Bases for genetic counseling in melanoma. / Puig, Susana; Potrony, Miriam; Cuellar, Francisco; Puig-Butille, Joan Anton; Carrera, Cristina; Aguilera, Paula; Nagore, Eduardo; Garcia-Casado, Zaida; Requena, Celia; Kumar, Rajiv; Landman, Gilles; Costa Soares De Sá, Bianca; Gargantini Rezze, Gisele; Facure, Luciana; De Avila, Alexandre Leon Ribeiro; Achatz, Maria Isabel; Carraro, Dirce Maria; Duprat Neto, João Pedreira; Grazziotin, Thais C.; Bonamigo, Renan R.; Rey, Maria Carolina W.; Balestrini, Claudia; Morales, Enrique; Molgo, Montserrat; Bakos, Renato Marchiori; Ashton-Prolla, Patricia; Giugliani, Roberto; Larre Borges, Alejandra; Barquet, Virginia; Pérez, Javiera; Martínez, Miguel; Cabo, Horacio; Cohen Sabban, Emilia; Latorre, Clara; Carlos-Ortega, Blanca; Salas-Alanis, Julio C.; Gonzalez, Roger; Olazaran, Zulema; Malvehy, Josep; Badenas, Celia.

In: Genetics in Medicine, Vol. 18, No. 7, 01.07.2016, p. 727-736.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Characterization of individuals at high risk of developing melanoma in Latin America: Bases for genetic counseling in melanoma

AU - Puig, Susana

AU - Potrony, Miriam

AU - Cuellar, Francisco

AU - Puig-Butille, Joan Anton

AU - Carrera, Cristina

AU - Aguilera, Paula

AU - Nagore, Eduardo

AU - Garcia-Casado, Zaida

AU - Requena, Celia

AU - Kumar, Rajiv

AU - Landman, Gilles

AU - Costa Soares De Sá, Bianca

AU - Gargantini Rezze, Gisele

AU - Facure, Luciana

AU - De Avila, Alexandre Leon Ribeiro

AU - Achatz, Maria Isabel

AU - Carraro, Dirce Maria

AU - Duprat Neto, João Pedreira

AU - Grazziotin, Thais C.

AU - Bonamigo, Renan R.

AU - Rey, Maria Carolina W.

AU - Balestrini, Claudia

AU - Morales, Enrique

AU - Molgo, Montserrat

AU - Bakos, Renato Marchiori

AU - Ashton-Prolla, Patricia

AU - Giugliani, Roberto

AU - Larre Borges, Alejandra

AU - Barquet, Virginia

AU - Pérez, Javiera

AU - Martínez, Miguel

AU - Cabo, Horacio

AU - Cohen Sabban, Emilia

AU - Latorre, Clara

AU - Carlos-Ortega, Blanca

AU - Salas-Alanis, Julio C.

AU - Gonzalez, Roger

AU - Olazaran, Zulema

AU - Malvehy, Josep

AU - Badenas, Celia

PY - 2016/7/1

Y1 - 2016/7/1

N2 - © American College of Medical Genetics and Genomics. 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.

AB - © American College of Medical Genetics and Genomics. 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.

U2 - 10.1038/gim.2015.160

DO - 10.1038/gim.2015.160

M3 - Article

VL - 18

SP - 727

EP - 736

JO - Genetics in Medicine

JF - Genetics in Medicine

SN - 1098-3600

IS - 7

ER -