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Gewählte Publikation:

SHR Neuro Krebs Kardio Lipid

Bourrier, C; Pierga, JY; Xuereb, L; Salaun, H; Proudhon, C; Speicher, MR; Belic, J; Heitzer, E; Lockhart, BP; Guigal-Stephan, N.
Shallow Whole-Genome Sequencing from Plasma Identifies FGFR1 Amplified Breast Cancers and Predicts Overall Survival
CANCERS. 2020; 12(6): 1481
Web of Science PubMed FullText FullText_MUG


Autor/innen der Med Uni Graz:
Belic Jelena
Heitzer Ellen
Speicher Michael

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Plum Analytics:
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 evaluateFGFR1copy numbers from a cohort of 100 metastatic breast cancer (mBC) patients.Methods:Formalin-fixed paraffin-embedded (FFPE) tissue samples were screened forFGFR1amplification by FISH, and positive cases were confirmed with a microarray platform (Oncoscan(TM)). 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 theFGFR1status.Results:Tissue-based analyses identifiedFGFR1amplifications in 20/100 tumors. All cases with a ctDNA AF above 3% (n= 12) showed concordance forFGFR1status between tissue and cfDNA. In one case, we were able to detect a high-levelFGFR1amplification, although the ctDNA AF was below 1%. Furthermore, high levels of ctDNA indicated an association with unfavorable prognosis based on overall survival.Conclusions:Screening forFGFR1amplification 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.

Find related publications in this database (Keywords)
clinical trials
liquid biopsy
breast Cancer
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