RT Journal Article
T1 Comprehensive Genomic Profile of Heterogeneous Long Follow-Up Triple-Negative Breast Cancer and Its Clinical Characteristics Shows DNA Repair Deficiency Has Better Prognostic
A1 Rojas-Jiménez, Ernesto
A1 Mejía-Gómez, Javier César
A1 Díaz-Velásquez, Clara
A1 Quezada-Urban, Rosalía
A1 Martínez Gregorio, Héctor
A1 Vallejo-Lecuona, Fernando
A1 de la Cruz-Montoya, Aldo
A1 Porras Reyes, Fany Iris
A1 Pérez-Sánchez, Víctor Manuel
A1 Maldonado-Martínez, Héctor Aquiles
A1 Robles-Estrada, Maybelline
A1 Bargalló-Rocha, Enrique
A1 Cabrera-Galeana, Paula
A1 Ramos-Ramírez, Maritza
A1 Chirino, Yolanda Irasema
A1 Alonso Herrera, Luis
A1 Terrazas, Luis Ignacio
A1 Oliver, Javier
A1 Frecha, Cecilia
A1 Perdomo, Sandra
A1 Vaca-Paniagua, Felipe
K1 Triple-negative breast cancer
K1 Whole exome sequencing
K1 WES
K1 Treatment
K1 Somatic mutation
K1 Mutational signatures
K1 Neoplasias de la mama triple negativas
K1 Secuenciación del exoma completo
K1 Terapéutica
K1 Neoplasias de la mama
K1 México
AB 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.
PB MDPI
YR 2020
FD 2020-11-19
LK http://hdl.handle.net/10668/3757
UL http://hdl.handle.net/10668/3757
LA en
NO Rojas-Jiménez E, Mejía-Gómez JC, Díaz-Velásquez C, Quezada-Urban R, Martínez Gregorio H, Vallejo-Lecuona F, et al. Comprehensive Genomic Profile of Heterogeneous Long Follow-Up Triple-Negative Breast Cancer and Its Clinical Characteristics Shows DNA Repair Deficiency Has Better Prognostic. Genes. 2020 Nov 19;11(11):1367
DS RISalud
RD Aug 21, 2025