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dc.contributor.authorOliver, Javier
dc.contributor.authorQuezada Urban, Rosalía
dc.contributor.authorFranco Cortés, Claudia Alejandra
dc.contributor.authorDíaz Velásquez, Clara Estela
dc.contributor.authorMontealegre Paez, Ana Lorena
dc.contributor.authorPacheco-Orozco, Rafael Adrián
dc.contributor.authorCastro Rojas, Carlos
dc.contributor.authorGarcía-Robles, Reggie
dc.contributor.authorLópez Rivera, Juan Javier
dc.contributor.authorGaitán Chaparro, Sandra
dc.contributor.authorGómez, Ana Milena
dc.contributor.authorSuarez Obando, Fernando
dc.contributor.authorGiraldo, Gustavo
dc.contributor.authorMaya, Maria Isabel
dc.contributor.authorHurtado-Villa, Paula
dc.contributor.authorSanchez, Ana Isabel
dc.contributor.authorSerrano, Norma
dc.contributor.authorOrduz Galvis, Ana Isabel
dc.contributor.authorAruachan, Sandra
dc.contributor.authorNuñez Castillo, Johanna
dc.contributor.authorFrecha, Cecilia
dc.contributor.authorRiggi, Cecilia
dc.contributor.authorJauk, Federico
dc.contributor.authorGómez García, Eva María
dc.contributor.authorCarranza, Claudia Lorena
dc.contributor.authorZamora, Vanessa
dc.contributor.authorTorres Mejía, Gabriela
dc.contributor.authorRomieu, Isabelle
dc.contributor.authorCastañeda, Carlos Arturo
dc.contributor.authorCastillo, Miluska
dc.contributor.authorGitler, Rina
dc.contributor.authorAntoniano, Adriana
dc.contributor.authorRojas Jiménez, Ernesto
dc.contributor.authorRomero Cruz, Luis Enrique
dc.contributor.authorVallejo Lecuona, Fernando
dc.contributor.authorDelgado Enciso, Iván
dc.contributor.authorMartínez Rizo, Abril Bernardette
dc.contributor.authorFlores Carranza, Alejandro
dc.contributor.authorBenites Godinez, Verónica
dc.contributor.authorMéndez Catalá, Claudia Fabiola
dc.contributor.authorHerrera, Luis Alonso
dc.contributor.authorIrasema Chirino, Yolanda
dc.contributor.authorTerrazas, Luis Ignacio
dc.contributor.authorPerdomo, Sandra
dc.contributor.authorVaca Paniagua, Felipe
dc.publisherFrontiers Mediaspa
dc.relation.ispartofseriesFrontiers in Oncology, 2234-943X, Vol 9, 2019, pag 1-13spa
dc.rightsAttribution 4.0 International*
dc.titleLatin american study of hereditary breast and ovarian cancer LACAM: A genomic epidemiology approachspa
dc.subject.decsNeoplasias de la mamaspa
dc.subject.keywordsBreast cancer susceptibilityspa
dc.subject.keywordsMassively parallel sequencingspa
dc.subject.keywordsGermline pathogenic variantsspa
dc.subject.keywordsLatin Americaspa
dc.publisher.journalFrontiers in Oncologyspa
dc.title.translatedLatin american study of hereditary breast and ovarian cancer LACAM: A genomic epidemiology approachspa
dc.description.abstractenglishPurpose: 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
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