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Article

Germline Testing Data Validate Inferences of Mutational Status for Variants Detected From Tumor-Only Sequencing.

JCO precision oncology - 1 Jan 2021

Jalloul Nahed, Gomy Israel, Stokes Samantha, Gusev Alexander, Johnson Bruce E, Lindeman Neal I, Macconaill Laura, Ganesan Shridar, Garber Judy E, Khiabanian Hossein

Abstract excerpt

Pathogenic germline variants (PGVs) in cancer susceptibility genes are usually identified through germline testing of DNA from blood or saliva: their detection can affect treatment options and potential risk-reduction strategies for patient relatives. PGV can also be identified in tumor sequencing assays, which, when performed without patient-matched normal specimens, render determination of variants' germline or...

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Identifiers

PMID: 34820595
DOI: 10.1200/PO.21.00279
PMCID: PMC8608266

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