Resultados de Búsqueda por Autor

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artículo

Germline Pathogenic Variant Prevalence Among Latin American and US Hispanic Individuals Undergoing Testing for Hereditary Breast and Ovarian Cancer: A Cross-Sectional Study

Publicado por
Ossa Gomez, Carlos Andrés, Achatz, Maria Isabel, Hurtado, Mabel, Sanabria-Salas, María Carolina, Sullcahuaman, Yasser, Chávarri-Guerra, Yanin, Dutil, Julie, Nielsen, Sarah M., Esplin, Edward D., Michalski, Scott T., Bristow, Sara L., Hatchell, Kathryn E., Nussbaum, Robert L., Pineda-Alvarez, Daniel E., Ashton-Prolla, Patricia

Publicado 2022

Enlace

PURPOSE: To report on pathogenic germline variants detected among individuals undergoing genetic testing for hereditary breast and/or ovarian cancer (HBOC) from Latin America and compare them with self-reported Hispanic individuals from the United States. METHODS: In this cross-sectional study, unrelated individuals with a personal/family history suggestive of HBOC who received clinician-ordered germline multigene sequencing were grouped according to the location of the ordering physician: group A, Mexico, Central America, and the Caribbean; group B, South America; and group C, United States with individuals who self-reported Hispanic ethnicity. Relatives who underwent cascade testing were analyzed separately. RESULTS: Among 24,075 unrelated probands across all regions, most were female (94.9%) and reported a personal history suggestive of HBOC (range, 65.0%-80.6%); the mean age at testi...

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artículo

Genetic Variations in the TP53 Pathway in Native Americans Strongly Suggest Adaptation to the High Altitudes of the Andes

Publicado por
Jacovas, Vanessa Cristina, Luiz Rovaris, Diego, Peréz, Orlando, Azevedo, Soledad de, Souza Macedo, Gabriel, Sandoval Sandoval, José Raul, Salazar Granara, Alberto, Villena, Mercedes, Dugoujon, Jean-Michel, Bisso-Machado, Rafael, Petzl- Erler, Maria Luiza, Mauro Salzano, Francisco, Ashton-Prolla, Patricia, Ramallo, Virginia, Cátira Bortolini, Maria

Publicado 2015

Enlace

The diversity of the five single nucleotide polymorphisms located in genes of the TP53 pathway (TP53, rs1042522; MDM2, rs2279744; MDM4, rs1563828; USP7, rs1529916; and LIF, rs929271) were studied in a total of 282 individuals belonging to Quechua, Aymara, Chivay, Cabanaconde, Yanke, Taquile, Amantani, Anapia, Uros, Guarani Ñandeva, and Guarani Kaiowá populations, characterized as Native American or as having a high level (> 90%) of Native American ancestry. In addition, published data pertaining to 100 persons from five other Native American populations (Surui, Karitiana, Maya, Pima, and Piapoco) were analyzed. The populations were classified as living in high altitude ( 2,500 m) or in lowlands (< 2,500 m). Our analyses revealed that alleles USP7-G, LIF-T, and MDM2-T showed significant evidence that they were selected for in relation to harsh environmental variables related to high alt...

3

artículo

From colorectal cancer pattern to the characterization of individuals at risk: picture for genetic research in Latin America

Publicado por
Vaccaro, Carlos Alberto, López-Kostner, Francisco, Della Valle, Adriana, Palmero, Edenir Inez, Rossi, Benedito Mauro, Antelo, Marina, Solano, Angela, Carraro, Dirce Maria, Forones, Nora Manoukian, Bohorquez, Mabel, Lino-Silva, Leonardo S., Buleje, Jose, Spirandelli, Florencia, Abe-Sandes, Kiyoko, Nascimento, Ivana, Sullcahuaman, Yasser, Sarroca, Carlos, Gonzalez, Maria Laura, Herrando, Alberto Ignacio, Alvarez, Karin, Neffa, Florencia, Galvao, Henrique Camposreis, Esperon, Patricia, Golubicki, Mariano, Cisterna, Daniel, Cardoso, Florencia C., Torrezan, Giovana Tardin, Aguiar Junior, Samuel, Pimenta, Celia Aparecida Marques, da Cruz Formiga, Maria Nirvana, Santos, Erika, Sa, Caroline U., Oliveira, Edite P., Fujita, Ricardo, Spirandelli, Enrique, Jimenez, Geiner, Guindalini, Rodrigo Santa Cruz, de Azevedo, Renata Gondim Meira Velame, Bueno, Larissa Souza Mario, Nogueira, Sonia Tereza dos Santos, Torres Loarte, Mariela, Padron, Jorge, Castro-Mujica, Maria del Carmen, Sanchez del Monte, Julio, Caballero, Carmelo, Muñeton Peña, Carlos Mario, Pinto, Joseph, Barletta-Carrillo, Claudia, Gutiérrez Angulo, Melva, Piñero, Tamara, Montenegro Beltran, Paola, Ashton-Prolla, Patricia, Rodriguez, Yenni, Quispe, Richard, Rossi, Norma Teresa, Martin, Claudia, Chialina, Sergio, Kalfayan, Pablo German, Bazo-Alvarez, Juan Carlos, Recalde Cañete, Alcides, Dominguez-Barrera, Constantino, Nuñez, Lina, Da Silva, Sabrina Daniela, Balavarca, Yesilda, Wernhoff, Patrik, Plazzer, John-Paul, Moller, Pal, Hovig, Eivind, Dominguez-Valentin, Mev

Publicado 2019

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Colorectal cancer (CRC) is one of the most common cancers in Latin America and the Caribbean, with the highest rates reported for Uruguay, Brazil and Argentina. We provide a global snapshot of the CRC patterns, how screening is performed, and compared/contrasted to the genetic profile of Lynch syndrome (LS) in the region. From the literature, we find that only nine (20%) of the Latin America and the Caribbean countries have developed guidelines for early detection of CRC, and also with a low adherence. We describe a genetic profile of LS, including a total of 2,685 suspected families, where confirmed LS ranged from 8% in Uruguay and Argentina to 60% in Peru. Among confirmed LS, path_MLH1 variants were most commonly identified in Peru (82%), Mexico (80%), Chile (60%), and path_MSH2/EPCAM variants were most frequently identified in Colombia (80%) and Argentina (47%). Path_MSH6 and path_PMS...