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Article

Germline reflex BRCA1/2 testing following tumor-only comprehensive genomic profiling: why, when, and how.

JNCI cancer spectrum - 2 Sept 2024

Maneri Giulia, Nero Camilla, Giacò Luciano, Scambia Giovanni, Minucci Angelo

Abstract excerpt

The majority of tumor comprehensive genomic profiling (CGP) currently does not include a matched normal control. The use of a tumor-only CGP approach needs the development of a strategy to refine germline pathogenic/likely pathogenic variants (gP/LPVs) calls, so as to limit the performance of unnecessary germline reflex tests and instead successfully identify patients who are carriers of likely gP/LPVs....

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Identifiers

PMID: 39363506
DOI: 10.1093/jncics/pkae096
PMCID: PMC11512647

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