{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["11(11)"],"submitter":["Rojas-Jimenez E"],"pubmed_abstract":["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 <i>TP53</i> (53%), <i>BRCA1/2</i> (27%), <i>CDKN1B</i> (9%), <i>PIK3CA</i> (9%), and <i>PTEN</i> (9%), and 16 operative mutational signatures. Moreover, tumors with mutations in <i>BRCA1/2</i> showed a trend of sensitivity to platin"],"journal":["Genes"],"pagination":["E1367"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7699204"],"repository":["biostudies-literature"],"pubmed_title":["Comprehensive Genomic Profile of Heterogeneous Long Follow-Up Triple-Negative Breast Cancer and Its Clinical Characteristics Shows DNA Repair Deficiency Has Better Prognostic."],"pmcid":["PMC7699204"],"pubmed_authors":["Chirino YI","Cabrera-Galeana P","Perez-Sanchez VM","Porras Reyes FI","Rojas-Jimenez E","de la Cruz-Montoya A","Diaz-Velasquez C","Mejia-Gomez JC","Perdomo S","Vaca-Paniagua F","Ramos-Ramirez M","Frecha C","Alonso Herrera L","Quezada-Urban R","Bargallo-Rocha E","Robles-Estrada M","Oliver J","Terrazas LI","Maldonado-Martinez HA","Vallejo-Lecuona F","Martinez Gregorio H"],"additional_accession":[]},"is_claimable":false,"name":"Comprehensive Genomic Profile of Heterogeneous Long Follow-Up Triple-Negative Breast Cancer and Its Clinical Characteristics Shows DNA Repair Deficiency Has Better Prognostic.","description":"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 <i>TP53</i> (53%), <i>BRCA1/2</i> (27%), <i>CDKN1B</i> (9%), <i>PIK3CA</i> (9%), and <i>PTEN</i> (9%), and 16 operative mutational signatures. Moreover, tumors with mutations in <i>BRCA1/2</i> showed a trend of sensitivity to platin","dates":{"release":"2020-01-01T00:00:00Z","publication":"2020 Nov","modification":"2025-04-27T02:46:55.878Z","creation":"2021-02-20T02:50:45Z"},"accession":"S-EPMC7699204","cross_references":{"pubmed":["33227964"],"doi":["10.3390/genes11111367"]}}