What question did this study set out to answer?

To determine whether low-pass whole-genome sequencing of cell-free DNA can accurately quantify tumor fraction and enable comprehensive, concordant whole-exome sequencing compared to metastatic tumor biopsies.

October 31, 2017Nature CommunicationsOpen Access

Scalable whole-exome sequencing of cell-free DNA reveals high concordance with metastatic tumors

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Authors

VAViktor A. AdalsteinssonBroad Institute GHGavin HaAstraZeneca (United Kingdom)SFSamuel S. FreemanMemorial Sloan Kettering Cancer Center

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Implication

Genomic study demonstrates high concordance between cell-free DNA and tumor biopsies in metastatic cancer, highlighting the viability of liquid biopsies for profiling.

Key Points

To determine whether low-pass whole-genome sequencing of cell-free DNA can accurately quantify tumor fraction and enable comprehensive, concordant whole-exome sequencing compared to metastatic tumor biopsies.
Developed ichorCNA software to quantify tumor fraction from 0.1× coverage whole-genome sequencing of cell-free DNA without prior tumor mutation data.
Screened 1,439 blood samples across 520 patients with metastatic prostate or breast cancer to identify individuals with sufficient tumor-derived cell-free DNA.
Conducted whole-exome sequencing on matched cell-free DNA and metastatic tumor biopsies in 41 patients harboring ≥10% tumor fraction.
Detected ≥10% tumor-derived cell-free DNA in the initial baseline sample of 34% of patients, satisfying the threshold for standard whole-exome sequencing.
Achieved 88% concordance for clonal somatic mutations and 80% concordance for copy number alterations between cell-free DNA and matched tumor biopsies, along with consistent mutational signatures and neoantigens in 41 patients.

Cite This Study

Adalsteinsson et al. (2017) studied this question.

synapsesocial.com/papers/69d8901105ee2ba81dbefbc0 https://doi.org/10.1038/s41467-017-00965-y

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Implication

Genomic study demonstrates high concordance between cell-free DNA and tumor biopsies in metastatic cancer, highlighting the viability of liquid biopsies for profiling.

Scalable whole-exome sequencing of cell-free DNA reveals high concordance with metastatic tumors

Discussion

Member takes

Implication

Key Points

Cite This Study

Scalable whole-exome sequencing of cell-free DNA reveals high concordance with metastatic tumors

Discussion

Member takes

Implication

Key Points

Cite This Study

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