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
Raúl Ossio M.D – PhD 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