Latin American Study of Hereditary Breast and Ovarian Cancer LACAM: A Genomic Epidemiology Approach Oliver J. es_PE Quezada Urban R. es_PE Franco Cortés C.A. es_PE Díaz Velásquez C.E. es_PE Montealegre Paez A.L. es_PE Pacheco-Orozco R.A. es_PE Castro Rojas C. es_PE García-Robles R. es_PE López Rivera J.J. es_PE Gaitán Chaparro S. es_PE Gómez A.M. es_PE Suarez Obando F. es_PE Giraldo G. es_PE Maya M.I. es_PE Hurtado-Villa P. es_PE Sanchez A.I. es_PE Serrano N. es_PE Orduz Galvis A.I. es_PE Aruachan S. es_PE Nuñez Castillo J. es_PE Frecha C. es_PE Riggi C. es_PE Jauk F. es_PE Gómez García E.M. es_PE Carranza C.L. es_PE Zamora V. es_PE Torres Mejía G. es_PE Romieu I. es_PE Castañeda C.A. es_PE Castillo M. es_PE Gitler R. es_PE Antoniano A. es_PE Rojas Jiménez E. es_PE Romero Cruz L.E. es_PE Vallejo Lecuona F. es_PE Delgado Enciso I. es_PE Martínez Rizo A.B. es_PE Flores Carranza A. es_PE Benites Godinez V. es_PE Méndez Catalá C.F. es_PE Herrera L.A. es_PE Chirino Y.I. es_PE Terrazas L.I. es_PE Perdomo S. es_PE Vaca Paniagua F. es_PE LACAM Study es_PE 2024-05-30T23:13:38Z 2024-05-30T23:13:38Z 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.scopus 2-s2.0-85077464342
dc.language.iso eng
dc.publisher Frontiers Media S.A.
dc.relation.ispartof Frontiers in Oncology
dc.rights info:eu-repo/semantics/openAccess
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.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