| Autor: |
Javier Oliver, Rosalía Quezada Urban, Claudia Alejandra Franco Cortés, Clara Estela Díaz Velásquez, Ana Lorena Montealegre Paez, Rafael Adrián Pacheco-Orozco, Carlos Castro Rojas, Reggie García-Robles, Juan Javier López Rivera, Sandra Gaitán Chaparro, Ana Milena Gómez, Fernando Suarez Obando, Gustavo Giraldo, Maria Isabel Maya, Paula Hurtado-Villa, Ana Isabel Sanchez, Norma Serrano, Ana Isabel Orduz Galvis, Sandra Aruachan, Johanna Nuñez Castillo, Cecilia Frecha, Cecilia Riggi, Federico Jauk, Eva María Gómez García, Claudia Lorena Carranza, Vanessa Zamora, Gabriela Torres Mejía, Isabelle Romieu, Carlos Arturo Castañeda, Miluska Castillo, Rina Gitler, Adriana Antoniano, Ernesto Rojas Jiménez, Luis Enrique Romero Cruz, Fernando Vallejo Lecuona, Iván Delgado Enciso, Abril Bernardette Martínez Rizo, Alejandro Flores Carranza, Verónica Benites Godinez, Claudia Fabiola Méndez Catalá, Luis Alonso Herrera, Yolanda Irasema Chirino, Luis Ignacio Terrazas, Sandra Perdomo, Felipe Vaca Paniagua |
| Jazyk: |
angličtina |
| Rok vydání: |
2019 |
| Předmět: |
|
| Zdroj: |
Frontiers in Oncology, Vol 9 (2019) |
| Druh dokumentu: |
article |
| ISSN: |
2234-943X |
| DOI: |
10.3389/fonc.2019.01429 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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