A group of researchers, with the participation of the technical director of CREBA, Dolores García Olmo, has designed a colorectal cancer predictive algorithm based on the discovery that patients with and without metastasis have a different content of exons (portions of genes) in their plasmas, which has led to a new concept called "differential exon presence" (DPE). The study, performed on rats carrying tumours, was able to discriminate between different stages of the disease. This finding supports the potential usefulness of the study of the genetic profile of plasma DNA as a clinical tool for the diagnosis, prognosis and treatment of cancer patients, aiming at precise and personalised medicine.

The study, which has been published in the journal Translational Oncology, has involved researchers from the Institute of Biomedical Research of Lleida (IRBLleida), the Experimental Research Unit of the University Hospital of Albacete, the Genomics and NGS Service of the Severe Molecular Biology Centre Ochoa (CBMSO), the Laboratory of New Therapies of the Institute of Health Research- Jiménez Díaz Foundation University Hospital (IIS-FJD) and the Department of Surgery of the Jiménez Díaz Foundation.

The use of liquid biopsy in the management of cancer disease has been one of the most encouraging expectations of the last two decades, as it provides additional information and the genetic profile of cell-free DNA. "Our group has launched a method for interpreting exome sequencing, based on an overview of the DNA circulating in the plasma, which has allowed us to design a predictive algorithm with potential clinical value in patients with colorectal cancer," explained Garcia.

The aim of the study was to examine the reproducibility and usefulness of the SED approach in an animal model of metastatic colorectal cancer. The next steps of this research are to validate this technique in more groups of colorectal cancer patients, and other tumor pathologies.

The study has been funded with two grants from the Instituto de Salud Carlos III (PS09/01815 and PI13/01924).

Article:

Dolores C. García-Olmo, Ramón Peiró-Pastor, María G. Picazo, Susana Olmedillas-López, Mariano García-Arranz, Begoña Aguado, Damián García-Olmo, Liquid biopsy by NGS: Differential presence of exons (DPE) is related to metastatic potential in a colon-cancer model in the rat, Translational Oncology, Volume 13, Issue 11, 2020, 100837, ISSN 1936-5233, https://www.sciencedirect.com/science/article/pii/S1936523320303296#bi0005.

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