Prevalence of pathogenic germline variants in the circulating tumor DNA testing

• DOI: 10.1007/s10147-022-02220-x
• Publication Date: 2022-07-23T05:04:08Z
• Authors: Yoshihiro Yamamoto; Keita Fukuyama; Masashi Kanai; Tomohiro Kondo; Masahiro Yoshioka; Tadayuki Kou; Pham Nguyen Quy; Reiko Kimura-Tsuc...; Takahiro Yamada; Shigemi Matsumoto; Shinji Kosugi; Manabu Muto
• Keywords: Surgical oncology

Somatic and germline variants are not distinguishable by circulating tumor DNA (ctDNA) testing without analyzing non-tumor samples. Although confirmatory is clinically relevant, the criteria for selecting presumed have been established in ctDNA testing. In present study, we aimed to evaluate prevalence of pathogenic clinical through their variant allele fractions (VAFs).A total consecutive 106 patients with advanced solid tumors who underwent (Guardant360®) between January 2018 March 2020 were eligible this study. To verify origin reported testing, sequencing was performed using peripheral blood samples archived Clinical Bioresource Center Kyoto University Hospital (Kyoto, Japan) under research settings.Among 223 median VAF 0.9% (0.02-81.8%), 88 ≥ 1% VAFs analyzed sequencing. Among 25 30% VAFs, seven found (BRCA2: n = 6, JAK2: 1). contrast, among 63 ranging from 1 < 30%, only one (TP53: Eventually, 15.6% defined be an acquired variant, because its allelic distribution did completely link those neighboring polymorphisms.Our current study demonstrated that values helpful