Please use this identifier to cite or link to this item:
http://hdl.handle.net/2445/214933
Title: | Circulating tumor DNA reveals complex biological features with clinical relevance in metastatic breast cancer |
Author: | Prat Aparicio, Aleix Brasó Maristany, Fara Martínez Sáez, Olga Sanfeliu, Esther Xia, Youli Bellet, Meritxell Galván, Patricia Martínez Pérez, Debora Pascual, Tomás Marín Aguilera, Mercedes Rodríguez, Ana Belén Chic Ruché, Núria Adamo, Barbara Paré, Laia Vidal, Maria Margelí Vila, Mireia Ballana, Ester Gómez Rey, Marina Oliveira, Mafalda Felip, Eudald Matito, Judit Sánchez Bayona, Rodrigo Suñol, Anna Saura, Cristina Ciruelos, Eva Tolosa, Pablo Muñoz, Montserrat González Farré, Blanca Villagrasa, Patricia Parker, Joel S. Perou, Charles M. Vivancos, Ana |
Keywords: | ADN Cèl·lules canceroses Biòpsia Càncer de mama Genòmica DNA Cancer cells Biopsy Breast cancer Genomics |
Issue Date: | 1-Mar-2023 |
Publisher: | Nature Publishing Group |
Abstract: | Liquid biopsy has proven valuable in identifying individual genetic alterations; however, the ability of plasma ctDNA to capture complex tumor phenotypes with clinical value is unknown. To address this question, we have performed 0.5X shallow whole-genome sequencing in plasma from 459 patients with metastatic breast cancer, including 245 patients treated with endocrine therapy and a CDK4/6 inhibitor (ET + CDK4/6i) from 2 independent cohorts. We demonstrate that machine learning multi-gene signatures, obtained from ctDNA, identify complex biological features, including measures of tumor proliferation and estrogen receptor signaling, similar to what is accomplished using direct tumor tissue DNA or RNA profiling. More importantly, 4 DNA-based subtypes, and a ctDNA-based genomic signature tracking retinoblastoma loss-of-heterozygosity, are significantly associated with poor response and survival outcome following ET + CDK4/6i, independently of plasma tumor fraction. Our approach opens opportunities for the discovery of additional multi-feature genomic predictors coming from ctDNA in breast cancer and other cancer-types. |
Note: | Reproducció del document publicat a: https://doi.org/10.1038/s41467-023-36801-9 |
It is part of: | Nature Communications, 2023, vol. 14, num.1 |
URI: | http://hdl.handle.net/2445/214933 |
Related resource: | https://doi.org/10.1038/s41467-023-36801-9 |
ISSN: | 2041-1723 |
Appears in Collections: | Articles publicats en revistes (Medicina) Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer) |
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