Cancers, Vol. 11, Pages 1246: A Multi-Center Study of BRCA1 and BRCA2 Germline Mutations in Mexican-Mestizo Breast Cancer Families Reveals Mutations Unreported in Latin American Population
Cancers, Vol. 11, Pages 1246: A Multi-Center Study of BRCA1 and BRCA2 Germline Mutations in Mexican-Mestizo Breast Cancer Families Reveals Mutations Unreported in Latin American Population
Cancers doi: 10.3390/cancers11091246
Authors:
Oliver Millan Catalan
Alma D. Campos-Parra
Rafael Vázquez-Romo
David Cantú de León
Nadia Jacobo-Herrera
Fermín Morales-González
César López-Camarillo
Mauricio Rodríguez-Dorantes
Eduardo López-Urrutia
Carlos Pérez-Plasencia
The presence of germline and somatic deleterious mutations in the BRCA1 and BRCA2 genes has important clinical consequences for breast cancer (BC) patients. Analysis of the mutational status in BRCA genes is not yet common in public Latin American institutions; thus, our objective was to implement high-performance technology with highly reliable results with the possibility of analyzing several patients simultaneously, therefore reducing cost and work time. A prospective cohort of 252 unrelated sporadic breast cancer patients from the Mexican-mestizo population were analyzed using next generation sequencing (NGS) based on ion semiconductor sequencing. We found 28 pathogenic mutations (25 in BRCA1 and 13 in BRCA2), 11 of which had not been reported previously in Hispanic or Latin American populations. A total of 38 patients were positive for a pathogenic mutation representing 15% of our Mexican women cohort with breast cancer; 25 for BRCA1; and 13 for BRCA2. Our results revealed that there ar...
Source: Cancers - Category: Cancer & Oncology Authors: Oliver Millan Catalan Alma D. Campos-Parra Rafael V ázquez-Romo David Cant ú de León Nadia Jacobo-Herrera Ferm ín Morales-González C ésar López-Camarillo Mauricio Rodr íguez-Dorantes Eduardo L ópez-Urrutia Carlos P érez-Plasencia Tags: Article Source Type: research