2026-06-14T03:50:53Zhttps://repisalud.isciii.es/rest/oai/request

oai:repisalud.isciii.es:20.500.12105/181562024-11-28T15:43:25Zcom_20.500.12105_15322com_20.500.12105_2051col_20.500.12105_16927

00925njm 22002777a 4500 dc Rojas-Jiménez, Ernesto author Mejía-Gómez, Javier César author Díaz-Velásquez, Clara author Quezada-Urban, Rosalía author Martínez Gregorio, Héctor author Vallejo-Lecuona, Fernando author de la Cruz-Montoya, Aldo author Porras Reyes, Fany Iris author Pérez-Sánchez, Víctor Manuel author Maldonado-Martínez, Héctor Aquiles author Robles-Estrada, Maybelline author Bargalló-Rocha, Enrique author Cabrera-Galeana, Paula author Ramos-Ramírez, Maritza author Chirino, Yolanda Irasema author Alonso Herrera, Luis author Terrazas, Luis Ignacio author Oliver, Javier author Frecha, Cecilia author Perdomo, Sandra author Vaca-Paniagua, Felipe author 2020-11-19 Triple-negative breast cancer (TNBC) presents a marked diversity at the molecular level, which promotes a clinical heterogeneity that further complicates treatment. We performed a detailed whole exome sequencing profile of 29 Mexican patients with long follow-up TNBC to identify genomic alterations associated with overall survival (OS), disease-free survival (DFS), and pathologic complete response (PCR), with the aim to define their role as molecular predictive factors of treatment response and prognosis. We detected 31 driver genes with pathogenic mutations in TP53 (53%), BRCA1/2 (27%), CDKN1B (9%), PIK3CA (9%), and PTEN (9%), and 16 operative mutational signatures. Moreover, tumors with mutations in BRCA1/2 showed a trend of sensitivity to platinum salts. We found an association between deficiency in DNA repair and surveillance genes and DFS. Across all analyzed tumors we consistently found a heterogeneous molecular complexity in terms of allelic composition and operative mutational processes, which hampered the definition of molecular traits with clinical utility. This work contributes to the elucidation of the global molecular alterations of TNBC by providing accurate genomic data that may help forthcoming studies to improve treatment and survival. This is the first study that integrates genomic alterations with a long follow-up of clinical variables in a Latin American population that is an underrepresented ethnicity in most of the genomic studies. 10.3390/genes11111367 2073-4425 Genes http://hdl.handle.net/10668/3757 33227964 http://hdl.handle.net/20.500.12105/18156 Triple-negative breast cancer Whole exome sequencing WES Treatment Somatic mutation Mutational signatures Neoplasias de la mama triple negativas Secuenciación del exoma completo Terapéutica Neoplasias de la mama México Comprehensive Genomic Profile of Heterogeneous Long Follow-Up Triple-Negative Breast Cancer and Its Clinical Characteristics Shows DNA Repair Deficiency Has Better Prognostic