Circulating tumor DNA in patients with colorectal adenomas: assessment of detectability and genetic heterogeneity.

Cell Death & Disease
Ni Ni Moe MyintAlessandro Rufini

Abstract

Improving early detection of colorectal cancer (CRC) is a key public health priority as adenomas and stage I cancer can be treated with minimally invasive procedures. Population screening strategies based on detection of occult blood in the feces have contributed to enhance detection rates of localized disease, but new approaches based on genetic analyses able to increase specificity and sensitivity could provide additional advantages compared to current screening methodologies. Recently, circulating cell-free DNA (cfDNA) has received much attention as a cancer biomarker for its ability to monitor the progression of advanced disease, predict tumor recurrence and reflect the complex genetic heterogeneity of cancers. Here, we tested whether analysis of cfDNA is a viable tool to enhance detection of colon adenomas. To address this, we assessed a cohort of patients with adenomas and healthy controls using droplet digital PCR (ddPCR) and mutation-specific assays targeted to trunk mutations. Additionally, we performed multiregional, targeted next-generation sequencing (NGS) of adenomas and unmasked extensive heterogeneity, affecting known drivers such as APC, KRAS and mismatch repair (MMR) genes. However, tumor-related mutations were...Continue Reading

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Citations

Mar 26, 2019·Expert Review of Molecular Diagnostics·Lili DuanDaiming Fan
Apr 17, 2019·Cancer Biology & Therapy·Anatoli KustanovichAlbert Grinshpun
May 10, 2020·International Journal of Molecular Sciences·Anna SiskovaVeronika Vymetalkova
Sep 16, 2020·Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology·Brian A SullivanDawn Provenzale

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Methods Mentioned

BETA
biopsies
surgical resection
PCR
Genotyping

Software Mentioned

GraphPad Prism
QuantaSoft TM
StepOnePlus TM
Primer Express
Ensembl
Pindel
CaVEMan
Excel

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