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Latin American Study of Hereditary Breast and Ovarian Cancer LACAM: A Genomic Epidemiology Approach

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dc.contributor.author Oliver J. es_PE
dc.contributor.author Quezada Urban R. es_PE
dc.contributor.author Franco Cortés C.A. es_PE
dc.contributor.author Díaz Velásquez C.E. es_PE
dc.contributor.author Montealegre Paez A.L. es_PE
dc.contributor.author Pacheco-Orozco R.A. es_PE
dc.contributor.author Castro Rojas C. es_PE
dc.contributor.author García-Robles R. es_PE
dc.contributor.author López Rivera J.J. es_PE
dc.contributor.author Gaitán Chaparro S. es_PE
dc.contributor.author Gómez A.M. es_PE
dc.contributor.author Suarez Obando F. es_PE
dc.contributor.author Giraldo G. es_PE
dc.contributor.author Maya M.I. es_PE
dc.contributor.author Hurtado-Villa P. es_PE
dc.contributor.author Sanchez A.I. es_PE
dc.contributor.author Serrano N. es_PE
dc.contributor.author Orduz Galvis A.I. es_PE
dc.contributor.author Aruachan S. es_PE
dc.contributor.author Nuñez Castillo J. es_PE
dc.contributor.author Frecha C. es_PE
dc.contributor.author Riggi C. es_PE
dc.contributor.author Jauk F. es_PE
dc.contributor.author Gómez García E.M. es_PE
dc.contributor.author Carranza C.L. es_PE
dc.contributor.author Zamora V. es_PE
dc.contributor.author Torres Mejía G. es_PE
dc.contributor.author Romieu I. es_PE
dc.contributor.author Castañeda C.A. es_PE
dc.contributor.author Castillo M. es_PE
dc.contributor.author Gitler R. es_PE
dc.contributor.author Antoniano A. es_PE
dc.contributor.author Rojas Jiménez E. es_PE
dc.contributor.author Romero Cruz L.E. es_PE
dc.contributor.author Vallejo Lecuona F. es_PE
dc.contributor.author Delgado Enciso I. es_PE
dc.contributor.author Martínez Rizo A.B. es_PE
dc.contributor.author Flores Carranza A. es_PE
dc.contributor.author Benites Godinez V. es_PE
dc.contributor.author Méndez Catalá C.F. es_PE
dc.contributor.author Herrera L.A. es_PE
dc.contributor.author Chirino Y.I. es_PE
dc.contributor.author Terrazas L.I. es_PE
dc.contributor.author Perdomo S. es_PE
dc.contributor.author Vaca Paniagua F. es_PE
dc.contributor.author LACAM Study es_PE
dc.date.accessioned 2024-05-30T23:13:38Z
dc.date.available 2024-05-30T23:13:38Z
dc.date.issued 2019
dc.description.abstract Purpose: Hereditary Breast and Ovarian Cancer (HBOC) syndrome is responsible for ~5–10% of all diagnosed breast and ovarian cancers. Breast cancer is the most common malignancy and the leading cause of cancer-related mortality among women in Latin America (LA). The main objective of this study was to develop a comprehensive understanding of the genomic epidemiology of HBOC throughout the establishment of The Latin American consortium for HBOC-LACAM, consisting of specialists from 5 countries in LA and the description of the genomic results from the first phase of the study. Methods: We have recruited 403 individuals that fulfilled the criteria for HBOC from 11 health institutions of Argentina, Colombia, Guatemala, Mexico and Peru. A pilot cohort of 222 individuals was analyzed by NGS gene panels. One hundred forty-three genes were selected on the basis of their putative role in susceptibility to different hereditary cancers. Libraries were sequenced in MiSeq (Illumina, Inc.) and PGM (Ion Torrent-Thermo Fisher Scientific) platforms. Results: The overall prevalence of pathogenic variants was 17% (38/222); the distribution spanned 14 genes and varied by country. The highest relative prevalence of pathogenic variants was found in patients from Argentina (25%, 14/57), followed by Mexico (18%, 12/68), Guatemala (16%, 3/19), and Colombia (13%, 10/78). Pathogenic variants were found in BRCA1 (20%) and BRCA2 (29%) genes. Pathogenic variants were found in other 12 genes, including high and moderate risk genes such as MSH2, MSH6, MUTYH, and PALB2. Additional pathogenic variants were found in HBOC unrelated genes such as DCLRE1C, WRN, PDE11A, and PDGFB. Conclusion: In this first phase of the project, we recruited 403 individuals and evaluated the germline genetic alterations in an initial cohort of 222 patients among 4 countries. Our data show for the first time in LA the distribution of pathogenic variants in a broad set of cancer susceptibility genes in HBOC. Even though we used extended gene panels, there was still a high proportion of patients without any detectable pathogenic variant, which emphasizes the larger, unexplored genetic nature of the disease in these populations. © Copyright © 2019 Oliver, Quezada Urban, Franco Cortés, Díaz Velásquez, Montealegre Paez, Pacheco-Orozco, Castro Rojas, García-Robles, López Rivera, Gaitán Chaparro, Gómez, Suarez Obando, Giraldo, Maya, Hurtado-Villa, Sanchez, Serrano, Orduz Galvis, Aruachan, Nuñez Castillo, Frecha, Riggi, Jauk, Gómez García, Carranza, Zamora, Torres Mejía, Romieu, Castañeda, Castillo, Gitler, Antoniano, Rojas Jiménez, Romero Cruz, Vallejo Lecuona, Delgado Enciso, Martínez Rizo, Flores Carranza, Benites Godinez, Méndez Catalá, Herrera, Chirino, Terrazas, Perdomo and Vaca Paniagua.
dc.description.sponsorship Consejo Nacional de Ciencia, Tecnología e Innovación Tecnológica - Concytec
dc.identifier.doi https://doi.org/10.3389/fonc.2019.01429
dc.identifier.scopus 2-s2.0-85077464342
dc.identifier.uri https://hdl.handle.net/20.500.12390/2661
dc.language.iso eng
dc.publisher Frontiers Media S.A.
dc.relation.ispartof Frontiers in Oncology
dc.rights info:eu-repo/semantics/openAccess
dc.rights.uri https://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subject massively parallel sequencing
dc.subject breast cancer susceptibility es_PE
dc.subject germline pathogenic variants es_PE
dc.subject HBOC es_PE
dc.subject Latin America es_PE
dc.subject.ocde http://purl.org/pe-repo/ocde/ford#3.04.03
dc.title Latin American Study of Hereditary Breast and Ovarian Cancer LACAM: A Genomic Epidemiology Approach
dc.type info:eu-repo/semantics/article
dspace.entity.type Publication
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