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Incidental pathogenic germline alterations detected through liquid biopsy in patients with solid tumors: prevalence, clinical utility and implications.

British journal of cancer - 1 May 2024

Laguna Juan Carlos, Pastor Belén, Nalda Irene, Hijazo-Pechero Sara, Teixido Cristina, Potrony Miriam, Puig-Butillé Joan Antón, Mezquita Laura

Abstract excerpt

Liquid biopsy, a minimally invasive approach for detecting tumor biomarkers in blood, has emerged as a leading-edge technique in cancer precision medicine. New evidence has shown that liquid biopsies can incidentally detect pathogenic germline variants (PGVs) associated with cancer predisposition, including in patients with a cancer for which genetic testing is not recommended. The ability to detect these...

Topics

Humans
Liquid Biopsy
Germ-Line Mutation
Neoplasms
Genetic Predisposition to Disease
Biomarkers, Tumor
Incidental Findings
Prevalence
Genetic Testing

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PMID: 38532104
DOI: 10.1038/s41416-024-02607-9
PMCID: PMC11059286

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