Open AccessGenomic profiling of cell-free circulating tumor DNA in patients with colorectal cancer and its fidelity to the genomics of the tumor biopsy
Author(s) -
Gerald Li,
Dean C. Pavlick,
Jon Chung,
Todd M. Bauer,
Bradford A. Tan,
Julio Peguero,
Patrick Ward,
Andre M. Kallab,
José A. Bufill,
Ari Hoffman,
Ahad A. Sadiq,
Jeff Edenfield,
Jie He,
Matthew Cooke,
Jason D. Hughes,
Brady Forcier,
Michelle Nahas,
Phil Stephens,
Siraj M. Ali,
Alexa B. Schrock,
Jeffrey S. Ross,
Vincent A. Miller,
Jeffrey P. Gregg
Publication year - 2019
Publication title -
journal of gastrointestinal oncology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.084
H-Index - 39
eISSN - 2219-679X
pISSN - 2078-6891
DOI - 10.21037/jgo.2019.05.05
Subject(s) - liquid biopsy , medicine , colorectal cancer , biopsy , indel , cell free fetal dna , cancer , oncology , pathology , gene , genetics , biology , single nucleotide polymorphism , genotype , pregnancy , fetus , prenatal diagnosis
Liquid biopsy offers the ability to non-invasively analyze the genome of a tumor through circulating tumor DNA (ctDNA) to identify targetable and prognostic genomic alterations. Few studies have rigorously analyzed ctDNA results and determined the fidelity with which they recapitulate the genomics of a sequenced tissue sample obtained from the same tumor. The clinical utility study (CUS) for the FoundationACT™ ctDNA assay (Foundation Medicine, Cambridge, MA, USA; NCT02620527) is a multi-center prospective clinical study for multiple solid tumor types to compare genomic profiling of paired tissue and blood samples from the same patient. In this subset of the study, paired specimens from 96 patients with colorectal cancer (CRC) were analyzed with comprehensive genomic profiling (CGP) of the tumor tissue sample (FoundationOne ® ) and blood sample (FoundationACT™).