Your browser doesn't support javascript.
loading
Shallow Whole-Genome Sequencing from Plasma Identifies FGFR1 Amplified Breast Cancers and Predicts Overall Survival.
Bourrier, Chantal; Pierga, Jean-Yves; Xuereb, Laura; Salaun, Hélène; Proudhon, Charlotte; Speicher, Michael R; Belic, Jelena; Heitzer, Ellen; Lockhart, Brian Paul; Guigal-Stephan, Nolwen.
Afiliación
  • Bourrier C; Division of Biotechnology, Servier Research Institute, 125, Chemin de ronde, 78290 Croissy Sur-seine, France.
  • Pierga JY; Department of Medical Oncology, Institut Curie, 26 rue d'Ulm, 75005 Paris, France.
  • Xuereb L; Circulating Tumor Biomarkers Laboratory, Institut Curie, PSL Research University, INSERM CIC 1428, 26 rue d'Ulm, 75005 Paris, France.
  • Salaun H; Université de Paris, 75005 Paris, France.
  • Proudhon C; Division of Methodology and Valorisation of Data, Servier Research and Development Institute, 50 rue carnot, 92150 Suresnes, France.
  • Speicher MR; Department of Medical Oncology, Institut Curie, 26 rue d'Ulm, 75005 Paris, France.
  • Belic J; Université de Paris, 75005 Paris, France.
  • Heitzer E; Circulating Tumor Biomarkers Laboratory, Institut Curie, PSL Research University, INSERM CIC 1428, 26 rue d'Ulm, 75005 Paris, France.
  • Lockhart BP; Institute of Human Genetics, Diagnostic and Research Center for Molecular BioMedicine, Medical University of Graz, Neue Stiftingtalstrasse 6, 8010 Graz, Austria.
  • Guigal-Stephan N; BioTechMed-Graz, 8010 Graz, Austria.
Cancers (Basel) ; 12(6)2020 Jun 06.
Article en En | MEDLINE | ID: mdl-32517171
Background: Focal amplification of fibroblast growth factor receptor 1 (FGFR1) defines a subgroup of breast cancers with poor prognosis and high risk of recurrence. We sought to demonstrate the potential of circulating cell-free DNA (cfDNA) analysis to evaluate FGFR1 copy numbers from a cohort of 100 metastatic breast cancer (mBC) patients. Methods: Formalin-fixed paraffin-embedded (FFPE) tissue samples were screened for FGFR1 amplification by FISH, and positive cases were confirmed with a microarray platform (OncoscanTM). Subsequently, cfDNA was evaluated by two approaches, i.e., mFAST-SeqS and shallow whole-genome sequencing (sWGS), to estimate the circulating tumor DNA (ctDNA) allele fraction (AF) and to evaluate the FGFR1 status. Results: Tissue-based analyses identified FGFR1 amplifications in 20/100 tumors. All cases with a ctDNA AF above 3% (n = 12) showed concordance for FGFR1 status between tissue and cfDNA. In one case, we were able to detect a high-level FGFR1 amplification, although the ctDNA AF was below 1%. Furthermore, high levels of ctDNA indicated an association with unfavorable prognosis based on overall survival. Conclusions: Screening for FGFR1 amplification in ctDNA might represent a viable strategy to identify patients eligible for treatment by FGFR inhibition, and mBC ctDNA levels might be used for the evaluation of prognosis in clinical drug trials.
Palabras clave
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies / Risk_factors_studies Idioma: En Revista: Cancers (Basel) Año: 2020 Tipo del documento: Article País de afiliación: Francia Pais de publicación: Suiza
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies / Risk_factors_studies Idioma: En Revista: Cancers (Basel) Año: 2020 Tipo del documento: Article País de afiliación: Francia Pais de publicación: Suiza