%0 Journal Article
%T An Optimized Workflow to Evaluate Estrogen Receptor Gene Mutations in Small Amounts of Cell-Free DNA
%A Agnes Jager
%A Anieta M. Sieuwerts
%A Bianca Mostert
%A Esther A. Reijm
%A Felix E. de Jongh
%A Jaco Kraan
%A John A. Foekens
%A John W.M. Martens
%A Lindsay Angus
%A Luc Y. Dirix
%A Maurice P.H.M. Jansen
%A Ngoc M. Van
%A Nick Beije
%A Paolo Vigneri
%A Paul Hamberg
%A Ronald van Marion
%A Silvia R. Vitale
%A Stefan Sleijfer
%J The Journal of Molecular Diagnostics
%D 2019
%R 10.1016/j.jmoldx.2018.08.010
%X The detection of mutated genes in cell-free DNA (cfDNA) in plasma has emerged as an
important minimally invasive way to obtain detailed information regarding tumor biology.
Reliable determination of circulating tumor¨Cderived DNA, often present at a low quantity
amidst an excess of normal DNA in plasma, would be of added value for screening and
monitoring of cancer patients and for hypothesis-generating studies in valuable retrospective
cohorts. Our aim was to establish a workflow to simultaneously assess four hotspot
estrogen receptor mutations (mESR1) in cfDNA isolated from only 200 ¦ĚL of plasma by
means of uniplex or multiplex pre-amplification combined with digital PCR.
%U https://jmd.amjpathol.org/article/S1525-1578(18)30238-1/fulltext