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2023-03-01

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cc-by (c) Prat Aleix et al., 2023
Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/214933

Circulating tumor DNA reveals complex biological features with clinical relevance in metastatic breast cancer

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https://doi.org/10.1038/s41467-023-36801-9

Resum

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.

Matèries

ADN, Cèl·lules canceroses, Biòpsia, Càncer de mama, Genòmica

Matèries (anglès)

DNA, Cancer cells, Biopsy, Breast cancer, Genomics

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Articles publicats en revistes (Medicina)
Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer)

Citació

PRAT APARICIO, Aleix, BRASÓ MARISTANY, Fara, MARTÍNEZ SÁEZ, Olga, SANFELIU, Esther, XIA, Youli, BELLET EZQUERRA, 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. Circulating tumor DNA reveals complex biological features with clinical relevance in metastatic breast cancer. _Nature Communications_. 2023. Vol. 14, núm. 1. [consulta: 28 de gener de 2026]. ISSN: 2041-1723. [Disponible a: https://hdl.handle.net/2445/214933]

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