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1

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...

2

artículo

Somatic mutations and ancestry markers in hispanic lung cancer patients.

Publicado por
Gimbrone, Nicholas T., Sarcar, Bhaswati, Gordian, Edna R., Rivera, Jason I., Lopez, Christian, Yoder, Sean J., Teer, Jamie K., Welsh, Eric A., Chiappori, Alberto A., Schabath, Matthew B., Reuther, Gary W., Dutil, Julie, Garcia, Miosotis, Ventosilla-Villanueva, Ronald, Vera-Valdivia, Luis, Yabar-Berrocal, Alejandro, Motta-Guerrero, Rodrigo, Santiago-Cardona, Pedro G., Muñoz-Antonia, Teresita, Cress, W. Douglas

Publicado 2017

Enlace

Considerando la falta de datos genómicos de pacientes hispanos/latinos con cáncer de pulmón, se estableció el Registro Latino de Cáncer de Pulmón, con el fin de recolectar muestras biológicas y datos de pacientes hispanos/latinos. Las mutaciones conductoras en pacientes hispanos/latinos con adenocarcinoma de pulmón difieren en frecuencia de aquellos en pacientes blancos no hispanos asociados con sus ancestros indígenas americanos. El espectro de mutaciones conductoras necesita evaluaciones complementarias en la población hispana/latina.

3

artículo

Association between Ancestry-Specific 6q25 Variants and Breast Cancer Subtypes in Peruvian Women

Publicado por
Zavala, Valentina A., Casavilca-Zambrano, Sandro, Navarro-Vásquez, Jeannie, Castañeda, Carlos A., Valencia, Guillermo, Morante, Zaida, Calderón, Monica, Abugattas, Julio E., Gómez, Henry, Fuentes, Hugo A., Liendo-Picoaga, Ruddy, Cotrina, Jose M., Monge, Claudia, Neciosup, Silvia P., Huntsman, Scott, Hu, Donglei, Sánchez, Sixto E., Williams, Michelle A., Núñez-Marrero, Angel, Godoy, Lenin, Hechmer, Aaron, Olshen, Adam B., Dutil, Julie, Ziv, Elad, Zabaleta, Jovanny, Gelaye, Bizu, Vásquez, Jule, Gálvez-Nino, Marco, Enriquez-Vera, Daniel, Vidaurre, Tatiana, Fejerman, Laura

Publicado 2022

Enlace

Background: Breast cancer incidence in the United States is lower in Hispanic/Latina (H/L) compared with African American/ Black or Non-Hispanic White women. An Indigenous American breast cancer-protective germline variant (rs140068132) has been reported near the estrogen receptor 1 gene. This study tests the association of rs140068132 and other polymorphisms in the 6q25 region with subtype-specific breast cancer risk in H/Ls of high Indigenous American ancestry. Methods: Genotypes were obtained for 5,094 Peruvian women with (1,755) and without (3,337) breast cancer. Associations between genotype and overall and subtype-specific risk for the protective variant were tested using logistic regression models and conditional analyses, including other risk-associated polymorphisms in the region. Results: We replicated the reported association between rs140068132 and breast cancer risk overall ...