biostudies-literatureUnknown13(20)Martinez-Gregorio HIn triple-negative breast cancer (TNBC), only 30% of patients treated with neoadjuvant chemotherapy achieve a pathological complete response after treatment and more than 90% die due to metastasis formation. The diverse clinical responses and metastatic developments are attributed to extensive intrapatient genetic heterogeneity and tumor evolution acting on this neoplasm. In this work, we aimed to evaluate genomic alterations and tumor evolution in TNBC patients with aggressive disease. We sequenced the whole exome of 16 lesions from four patients who did not respond to therapy, and took several follow-up samples, including samples from tumors before and after treatment, as well as from the lymph nodes and skin metastases. We found substantial intrapatient genetic heterogeneity, with a varCancers5091https://www.ebi.ac.uk/biostudies/studies/S-EPMC8534164biostudies-literatureThe Evolution of Clinically Aggressive Triple-Negative Breast Cancer Shows a Large Mutational Diversity and Early Metastasis to Lymph Nodes.PMC8534164Chirino YICabrera-Galeana PPerez-Sanchez VMRojas-Jimenez Ede la Cruz-Montoya ADiaz-Velasquez CMejia-Gomez JCPerdomo SVaca-Paniagua FRamos-Ramirez MFrecha CMartinez-Gregorio HAlonso Herrera LQuezada-Urban RBargallo-Rocha ERobles-Estrada MOliver JPorras-Reyes FITerrazas LIMaldonado-Martinez HAVallejo-Lecuona FfalseThe Evolution of Clinically Aggressive Triple-Negative Breast Cancer Shows a Large Mutational Diversity and Early Metastasis to Lymph Nodes.In triple-negative breast cancer (TNBC), only 30% of patients treated with neoadjuvant chemotherapy achieve a pathological complete response after treatment and more than 90% die due to metastasis formation. The diverse clinical responses and metastatic developments are attributed to extensive intrapatient genetic heterogeneity and tumor evolution acting on this neoplasm. In this work, we aimed to evaluate genomic alterations and tumor evolution in TNBC patients with aggressive disease. We sequenced the whole exome of 16 lesions from four patients who did not respond to therapy, and took several follow-up samples, including samples from tumors before and after treatment, as well as from the lymph nodes and skin metastases. We found substantial intrapatient genetic heterogeneity, with a var2021-01-01T00:00:00Z2021 Oct2025-05-29T20:28:56.676Z2025-05-29T20:28:56.676ZS-EPMC85341643468023910.3390/cancers13205091