Prevalence of pathogenic germline variants in the circulating tumor DNA testing.

ABSTRACT:

Background

Somatic and germline variants are not distinguishable by circulating tumor DNA (ctDNA) testing without analyzing non-tumor samples. Although confirmatory germline testing is clinically relevant, the criteria for selecting presumed germline variants have not been established in ctDNA testing. In the present study, we aimed to evaluate the prevalence of pathogenic germline variants in clinical ctDNA testing through their variant allele fractions (VAFs).

Methods

A total of consecutive 106 patients with advanced solid tumors who underwent ctDNA testing (Guardant360^®) between January 2018 and March 2020 were eligible for this study. To verify the origin of pathogenic variants reported in ctDNA testing, germline sequencing was performed using peripheral blood

SUBMITTER: Yamamoto Y 

PROVIDER: S-EPMC9510107 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature