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

Publicado por
Oliver J., Quezada Urban R., Franco Cortés C.A., Díaz Velásquez C.E., Montealegre Paez A.L., Pacheco-Orozco R.A., Castro Rojas C., García-Robles R., López Rivera J.J., Gaitán Chaparro S., Gómez A.M., Suarez Obando F., Giraldo G., Maya M.I., Hurtado-Villa P., Sanchez A.I., Serrano N., Orduz Galvis A.I., Aruachan S., Nuñez Castillo J., Frecha C., Riggi C., Jauk F., Gómez García E.M., Carranza C.L., Zamora V., Torres Mejía G., Romieu I., Castañeda C.A., Castillo M., Gitler R., Antoniano A., Rojas Jiménez E., Romero Cruz L.E., Vallejo Lecuona F., Delgado Enciso I., Martínez Rizo A.B., Flores Carranza A., Benites Godinez V., Méndez Catalá C.F., Herrera L.A., Chirino Y.I., Terrazas L.I., Perdomo S., Vaca Paniagua F., LACAM Study

Publicado 2019

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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 suscept...