ArticleInternational journal of clinical oncology2022
Prevalence of pathogenic germline variants in the circulating tumor DNA testing.
Article in International journal of clinical oncology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 5 citations in OpenAlex.
- Circulating tumour DNA as a promising biomarker for breast cancer diagnosis & treatment monitoring.The Indian journal of medical research · 2025Review
- New insights into the biology and development of lung cancer in never smokers-implications for early detection and treatment.Journal of translational medicine · 2023Review
- Current Clinical Practice of Precision Medicine Using Comprehensive Genomic Profiling Tests in Biliary Tract Cancer in Japan.Current oncology (Toronto, Ont.) · 2022Review
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Authors and funding
12 authors at 1 institution in 1 country.
Funding
Abstract
backgroundSomatic 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).
methodsA total of consecutive 106 patients with advanced solid tumors who underwent ctDNA testing (Guardant360
resultsAmong 223 pathogenic variants reported in ctDNA testing, the median VAF was 0.9% (0.02-81.8%), and 88 variants with ≥ 1% VAFs were analyzed in germline sequencing. Among 25 variants with ≥ 30% VAFs, seven were found in peripheral blood DNA (BRCA2: n = 6, JAK2: n = 1). In contrast, among the 63 variants with VAFs ranging from 1 to < 30%, only one variant was found in peripheral blood DNA (TP53: n = 1). Eventually, this variant with 15.6% VAF was defined to be an acquired variant, because its allelic distribution did not completely link to those of neighboring germline polymorphisms.
conclusionOur current study demonstrated that VAFs values are helpful for selecting presumed germline variants in clinical ctDNA testing.
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