Discovery of novel DNA methylation biomarkers for non-invasive sporadic breast cancer detection in the Latino population
Cappetta, Mónica (Universidad de la República. Departamento de Genética)
Fernandez, Lucía (Universidad de la República. Departamento de Genética)
Brignoni, Lucía (Universidad de la República. Departamento de Genética)
Artagaveytia, Nora (Universidad de la República. Departamento Básico de Medicina)
Bonilla, Carolina (University of Bristol. Bristol Medical School)
López, Miguel (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
Esteller, M. (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
Bertoni, Bernardo (Universidad de la República. Departamento de Genética)
Berdasco, Maria (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
Universitat Autònoma de Barcelona

Date:	2021
Abstract:	Human diversity is one of the main pitfalls in the development of robust worldwide biomarkers in oncology. Epigenetic variability across human populations is associated with different genetic backgrounds, as well as variable lifestyles and environmental exposures, each of which should be investigated. To identify potential non-invasive biomarkers of sporadic breast cancer in the Uruguayan population, we studied genome-wide DNA methylation using Illumina methylation arrays in leukocytes of 22 women with sporadic breast cancer and 10 healthy women in a case-control study. We described a panel of 38 differentially methylated CpG positions that was able to cluster breast cancer patients (BCP) and controls, and that also recapitulated methylation differences in 12 primary breast tumors and their matched normal breast tissue. Moving forward, we simplified the detection method to improve its applicability in a clinical setting and used an independent well-characterized cohort of 80 leukocyte DNA samples from BCP and 80 healthy controls to validate methylation results at specific cancer-related genes. Our investigations identified methylation at CYFIP1 as a novel epigenetic biomarker candidate for sporadic breast cancer in the Uruguayan population. These results provide a proof-of-concept for the design of larger studies aimed at validating biomarker panels for the Latin American population.
Grants:	Instituto de Salud Carlos III PI10-02267
Note:	Altres ajuts: This study was supported by grants from the Agencia Nacional de Investigación e Innovación (ANII) (FMV_3_2011_1_5904 to MC), and Programa de Desarrollo de las Ciencias Básicas (PEDECIBA, to MC and BB).
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Language:	Anglès
Document:	Article ; recerca ; Versió publicada
Subject:	DNA methylation ; Biomarker ; Breast cancer ; Human diversity ; Non-invasive test
Published in:	Molecular Oncology, Vol. 15 Núm. 2 (february 2021) , p. 473-486, ISSN 1878-0261

DOI: 10.1002/1878-0261.12842
PMID: 33145876

14 p, 892.1 KB

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Research literature > UAB research groups literature > Research Centres and Groups (research output) > Health sciences and biosciences > Institut d'Investigació en Ciencies de la Salut Germans Trias i Pujol (IGTP) > Josep Carreras Leukaemia Research Institute
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