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Development of a Novel NGS Methodology for Ultrasensitive Circulating Tumor DNA Detection as a Tool for Early-Stage Breast Cancer Diagnosis.
Jiménez-Rodríguez, Begoña; Alba-Bernal, Alfonso; López-López, Esperanza; Quirós-Ortega, María Elena; Carbajosa, Guillermo; Garrido-Aranda, Alicia; Álvarez, Martina; Godoy-Ortiz, Ana; Queipo-Ortuño, María Isabel; Vicioso, Luis; Díaz-Córdoba, Gema; Roldán-Díaz, María Dunia; Velasco-Suelto, Jesús; Hernando, Cristina; Bermejo, Begoña; Julve-Parreño, Ana; Lluch, Ana; Pascual, Javier; Comino-Méndez, Iñaki; Alba, Emilio.
Afiliação
  • Jiménez-Rodríguez B; Unidad de Gestión Clínica Intercentros de Oncología Médica, Hospitales Universitarios Regional y Virgen de la Victoria, 29010 Malaga, Spain.
  • Alba-Bernal A; The Biomedical Research Institute of Málaga (IBIMA-CIMES-UMA), 29010 Malaga, Spain.
  • López-López E; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC-CB16/12/00481), 28029 Madrid, Spain.
  • Quirós-Ortega ME; Unidad de Gestión Clínica Intercentros de Oncología Médica, Hospitales Universitarios Regional y Virgen de la Victoria, 29010 Malaga, Spain.
  • Carbajosa G; The Biomedical Research Institute of Málaga (IBIMA-CIMES-UMA), 29010 Malaga, Spain.
  • Garrido-Aranda A; Andalusia-Roche Network in Precision Medical Oncology, 41092 Sevilla, Spain.
  • Álvarez M; Unidad de Gestión Clínica Intercentros de Oncología Médica, Hospitales Universitarios Regional y Virgen de la Victoria, 29010 Malaga, Spain.
  • Godoy-Ortiz A; The Biomedical Research Institute of Málaga (IBIMA-CIMES-UMA), 29010 Malaga, Spain.
  • Queipo-Ortuño MI; Unidad de Gestión Clínica Intercentros de Oncología Médica, Hospitales Universitarios Regional y Virgen de la Victoria, 29010 Malaga, Spain.
  • Vicioso L; The Biomedical Research Institute of Málaga (IBIMA-CIMES-UMA), 29010 Malaga, Spain.
  • Díaz-Córdoba G; Andalusia-Roche Network in Precision Medical Oncology, 41092 Sevilla, Spain.
  • Roldán-Díaz MD; Unidad de Gestión Clínica Intercentros de Oncología Médica, Hospitales Universitarios Regional y Virgen de la Victoria, 29010 Malaga, Spain.
  • Velasco-Suelto J; The Biomedical Research Institute of Málaga (IBIMA-CIMES-UMA), 29010 Malaga, Spain.
  • Hernando C; Department of Surgical Specialties, Biochemical and Immunology, Faculty of Medicine, University of Málaga, 29071 Malaga, Spain.
  • Bermejo B; Unidad de Gestión Clínica Intercentros de Oncología Médica, Hospitales Universitarios Regional y Virgen de la Victoria, 29010 Malaga, Spain.
  • Julve-Parreño A; The Biomedical Research Institute of Málaga (IBIMA-CIMES-UMA), 29010 Malaga, Spain.
  • Lluch A; Andalusia-Roche Network in Precision Medical Oncology, 41092 Sevilla, Spain.
  • Pascual J; Unidad de Gestión Clínica Intercentros de Oncología Médica, Hospitales Universitarios Regional y Virgen de la Victoria, 29010 Malaga, Spain.
  • Comino-Méndez I; The Biomedical Research Institute of Málaga (IBIMA-CIMES-UMA), 29010 Malaga, Spain.
  • Alba E; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC-CB16/12/00481), 28029 Madrid, Spain.
Int J Mol Sci ; 24(1)2022 Dec 21.
Article em En | MEDLINE | ID: mdl-36613590
ABSTRACT
Breast cancer (BC) is the most prevalent cancer in women. While usually detected when localized, invasive procedures are still required for diagnosis. Herein, we developed a novel ultrasensitive pipeline to detect circulating tumor DNA (ctDNA) in a series of 75 plasma samples from localized BC patients prior to any medical intervention. We first performed a tumor-informed analysis to correlate the mutations found in tumor tissue and plasma. Disregarding the tumor data next, we developed an approach to detect tumor mutations in plasma. We observed a mutation concordance between the tumor and plasma of 29.50% with a sensitivity down to 0.03% in mutant variant allele frequency (VAF). We detected mutations in 33.78% of the samples, identifying eight patients with plasma-only mutations. Altogether, we determined a specificity of 86.36% and a positive predictive value of 88.46% for BC detection. We demonstrated an association between higher ctDNA median VAF and higher tumor grade, multiple plasma mutations with a likelihood of relapse and more frequent TP53 plasma mutations in hormone receptor-negative tumors. Overall, we have developed a unique ultra-sensitive sequencing workflow with a technology not previously employed in early BC, paving the way for its application in BC screening.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neoplasias da Mama / DNA Tumoral Circulante Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neoplasias da Mama / DNA Tumoral Circulante Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article