TY - JOUR
T1 - Liquid biopsies
T2 - Genotyping circulating tumor DNA
AU - Diaz, Luis A.
AU - Bardelli, Alberto
PY - 2014/2/20
Y1 - 2014/2/20
N2 - Genotyping tumor tissue in search of somatic genetic alterations for actionable information has become routine practice in clinical oncology. Although these sequence alterations are highly informative, sampling tumor tissue has significant inherent limitations; tumor tissue is a single snapshot in time, is subject to selection bias resulting from tumor heterogeneity, and can be difficult to obtain. Cell-free fragments of DNA are shed into the bloodstream by cells undergoing apoptosis or necrosis, and the load of circulating cell-free DNA (cfDNA) correlates with tumor staging and prognosis. Moreover, recent advances in the sensitivity and accuracy of DNA analysis have allowed for genotyping of cfDNA for somatic genomic alterations found in tumors. The ability to detect and quantify tumor mutations has proven effective in tracking tumor dynamics in real time as well as serving as a liquid biopsy that can be used for a variety of clinical and investigational applications not previously possible.
AB - Genotyping tumor tissue in search of somatic genetic alterations for actionable information has become routine practice in clinical oncology. Although these sequence alterations are highly informative, sampling tumor tissue has significant inherent limitations; tumor tissue is a single snapshot in time, is subject to selection bias resulting from tumor heterogeneity, and can be difficult to obtain. Cell-free fragments of DNA are shed into the bloodstream by cells undergoing apoptosis or necrosis, and the load of circulating cell-free DNA (cfDNA) correlates with tumor staging and prognosis. Moreover, recent advances in the sensitivity and accuracy of DNA analysis have allowed for genotyping of cfDNA for somatic genomic alterations found in tumors. The ability to detect and quantify tumor mutations has proven effective in tracking tumor dynamics in real time as well as serving as a liquid biopsy that can be used for a variety of clinical and investigational applications not previously possible.
UR - http://www.scopus.com/inward/record.url?scp=84898542288&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84898542288&partnerID=8YFLogxK
U2 - 10.1200/JCO.2012.45.2011
DO - 10.1200/JCO.2012.45.2011
M3 - Review article
C2 - 24449238
AN - SCOPUS:84898542288
SN - 0732-183X
VL - 32
SP - 579
EP - 586
JO - Journal of Clinical Oncology
JF - Journal of Clinical Oncology
IS - 6
ER -