Dataset Information

Concordance between whole exome sequencing of circulating tumor DNA and tumor tissue.

ABSTRACT: Next generation sequencing of circulating tumor DNA (ctDNA) has been used as a noninvasive alternative for cancer diagnosis and characterization of tumor mutational landscape. However, low ctDNA fraction and other factors can limit the ability of ctDNA analysis to capture tumor-specific and actionable variants. In this study, whole-exome sequencings (WES) were performed on paired ctDNA and tumor biopsy in 15 cancer patients to assess the extent of concordance between mutational profiles derived from the two source materials. We found that up to 16.4% ctDNA fraction can still be insufficient for detecting tumor-specific variants and that good concordance with tumor biopsy is consistently achieved at higher ctDNA fractions. Most importantly, ctDNA analysis can consistently capture tumor heterogeneity and detect key cancer-related genes even in a patient with both primary and metastatic tumors.

SUBMITTER: Leenanitikul J

PROVIDER: S-EPMC10599540 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature

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Concordance between whole exome sequencing of circulating tumor DNA and tumor tissue.

Leenanitikul Julanee J Chanchaem Prangwalai P Mankhong Suwanan S Denariyakoon Sikrit S Fongchaiya Valla V Arayataweegool Areeya A Angspatt Pattama P Wongchanapai Ploytuangporn P Prapanpoj Verayuth V Chatamra Kris K Pisitkun Trairak T Sriswasdi Sira S Wongkongkathep Piriya P

PloS one 20231025 10

Next generation sequencing of circulating tumor DNA (ctDNA) has been used as a noninvasive alternative for cancer diagnosis and characterization of tumor mutational landscape. However, low ctDNA fraction and other factors can limit the ability of ctDNA analysis to capture tumor-specific and actionable variants. In this study, whole-exome sequencings (WES) were performed on paired ctDNA and tumor biopsy in 15 cancer patients to assess the extent of concordance between mutational profiles derived ...[more]

PMID: 37878600

Dataset Information

Concordance between whole exome sequencing of circulating tumor DNA and tumor tissue.

Publications

Concordance between whole exome sequencing of circulating tumor DNA and tumor tissue.

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