Genes, Vol. 11, Pages 1367: Comprehensive Genomic Profile of Heterogeneous Long Follow-Up Triple-Negative Breast Cancer and Its Clinical Characteristics Shows DNA Repair Deficiency Has Better Prognostic

Genes, Vol. 11, Pages 1367: Comprehensive Genomic Profile of Heterogeneous Long Follow-Up Triple-Negative Breast Cancer and Its Clinical Characteristics Shows DNA Repair Deficiency Has Better Prognostic Genes doi: 10.3390/genes11111367 Authors: Ernesto Rojas-Jiménez Javier César Mejía-Gómez Clara Díaz-Velásquez Rosalía Quezada-Urban Héctor Martínez Gregorio Fernando Vallejo-Lecuona Aldo de la Cruz-Montoya Fany Iris Porras Reyes Víctor Manuel Pérez-Sánchez Héctor Aquiles Maldonado-Martínez Maybelline Robles-Estrada Enrique Bargalló-Rocha Paula Cabrera-Galeana Maritza Ramos-Ramírez Yolanda Irasema Chirino Luis Alonso Herrera Luis Ignacio Terrazas Javier Oliver Cecilia Frecha Sandra Perdomo Felipe Vaca-Paniagua 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...
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Article Source Type: research