Frequent post-operative monitoring of colorectal cancer using individualised ctDNA validated by multiregional molecular profiling.

ABSTRACT:

Background

Circulating tumour DNA (ctDNA) is known as a tumour-specific personalised biomarker, but the mutation-selection criteria from heterogeneous tumours remain a challenge.

Methods

We conducted multiregional sequencing of 42 specimens from 14 colorectal tumours of 12 patients, including two double-cancer cases, to identify mutational heterogeneity to develop personalised ctDNA assays using 175 plasma samples.

Results

"Founder" mutations, defined as a mutation that is present in all regions of the tumour in a binary manner (i.e., present or absent), were identified in 12/14 tumours. In contrast, "truncal" mutations, which are the first mutation that occurs prior to the divergence of branches in the phylogenetic tree using variant allele frequency (VAF) as continu

SUBMITTER: Yaegashi M 

PROVIDER: S-EPMC8076308 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature