Cancer Genetics & Bioinformatics – National University of Mexico

Group Leader

Dr Carla Daniela Robles-Espinoza

Laboratorio Internacional de Investigación sobre el Genoma Humano
Universidad Nacional Autónoma de México, Campus Juriquilla
Blvd. Juriquilla #3001 Col. Jurica La Mesa
C.P. 76230, Querétaro, México
Tel.  +52 55 56 23 43 31 ext. 259


Group Members

Irving Simonin Wilmer
Carolina Castañeda García
Omar Isaac García Salinas
Raúl Ossio M.D – PhD student
Patricia Basurto Lozada – student


Our research aims to study how cancer originates and evolves, especially in the context of admixed populations such as Mexican people. Our current focus is melanoma predisposition and progression, with aims to extend to other types of cancer that are prevalent in Latin America. We analyse data from large-scale sequencing methodologies and write software tools to help in its interpretation.

Our on-going projects are:

  • The study of genetic risk variants and mutation drivers in acral melanoma, a poorly studied melanoma subtype that is the most common in Mexico but very rare in European-descent populations. In this project, we are collaborating with Mexico’s National Cancer Institute and the Manuel Gonzalez Gea Hospital to study hundreds of samples collected in these hospitals over three decades.
  • The study of melanoma predisposition genes by exome-sequencing germline DNA from Mexican families and patients. As Mexicans are a highly admixed population, we might identify novel melanoma-predisposing haplotypes that are not found in European-descent populations. In this project, we are collaborating with the National Autonomous University of Mexico’s Clinic of Oncodermatology.
  • The creation of a software tool to easily interpret data from next-generation sequencing technologies in a clinical context.


Robles-Espinoza CD, Roberts ND, Chen S, Leacy FP, Alexandrov LB, Pornputtapong N, Halaban R, Krauthammer M, Cui R, Timothy Bishop D, Adams DJ (2016). Germline MC1R status influences somatic mutation burden in melanoma. Nat Commun. Jul 12;7:12064. doi: 10.1038/ncomms12064. PMID: 27403562 (See media related to this article)

McIntyre RE, Nicod J, Robles-Espinoza CD, Maciejowski J, Cai N, Hill J, Verstraten R, Iyer V, Rust AG, Balmus G, Mott R, Flint J, Adams DJ (2016). A Genome-Wide Association Study for Regulators of Micronucleus Formation in Mice. G3 (Bethesda) May 27. pii: g3.116.030767. doi: 10.1534/g3.116.030767. PMID: 27233670

GenoMEL (Latin America)


Dr Francisco Cuellar


Dr Susana Puig

For the past three years we have been identifying cases of familial melanoma and multiple primary melanoma in Latin America. Both data and samples have been gathered for use in studies of CDKN2A (p16/p14ARF), CDK4 and MC1R at the Molecular Genetics Laboratory (MGL) of the Hospital Clnic of Barcelona (HCB).

This work is ongoing and we are anticipating a series of publications in 2009/2010.

Leaders in participant countries


Dr Horacio Cabo


Dr Gilles Landman


Dr Enrique Morales and Dr Claudia Balestrini


Dr Cesar Merlano


Dr Blanca Carlos and Julio Salas


Dr Alejandra Larre-Borges

Presentations (a brief selection)

Genetic risk factors for melanoma development in Latin America
Presented at the 16th European Academy of Dermatology and Venereology (EADV) Congress, Vienna, Austria, May 2007 and the 20th World Congress of Dermatology, Buenos Aires, Argentina, October 2007.

Report of a novel CDKN2A germ line mutation in two melanoma prone families from Uruguay
Presented at the 21st World Congress of Dermatology, Buenos Aires, Argentina, October 2007. This work received an award as one of the top three poster presentations.

Interview about GenoMEL project
Presented on the Uruguayan TV show: “Calidad de Vida”. (Dr. Larre-Borges, Montevideo, Uruguay, December 2008).