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Article

Discrepancies between tumor genomic profiling and germline genetic testing.

ESMO open - 1 Aug 2022

Pauley K, Koptiuch C, Greenberg S, Kohlmann W, Jeter J, Colonna S, Werner T, Kinsey C, Gilcrease G, Weis J, Whisenant J, Florou V, Garrido-Laguna I

Abstract excerpt

BACKGROUND: Tumor genomic profiling (TGP) often incidentally identifies germline pathogenic variants (PVs) associated with cancer predisposition syndromes. Methods used by somatic testing laboratories, including germline analysis, differ from designated germline laboratories that have optimized the identification of germline PVs. This study evaluated discrepancies between somatic and germline testing results, and...

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Source

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Identifiers

PMID: 35780590
DOI: 10.1016/j.esmoop.2022.100526
PMCID: PMC9511791

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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