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Article

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

International journal of clinical oncology - 1 Oct 2022

Yamamoto Yoshihiro, Fukuyama Keita, Kanai Masashi, Kondo Tomohiro, Yoshioka Masahiro, Kou Tadayuki, Quy Pham Nguyen, Kimura-Tsuchiya Reiko, Yamada Takahiro, Matsumoto Shigemi, Kosugi Shinji, Muto Manabu

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35870019
DOI: 10.1007/s10147-022-02220-x
PMCID: PMC9510107

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