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Article

Comprehensive assessment of germline pathogenic variant detection in tumor-only sequencing.

Annals of oncology : official journal of the European Society for Medical Oncology - 1 Apr 2022

Terraf P, Pareja F, Brown D N, Ceyhan-Birsoy O, Misyura M, Rana S, O'Reilly E, Carlo M I, Aghajanian C, Liu Y, Derakhshan F, Jayakumaran G, Weigelt B, Walsh M, Stadler Z, Offit K, Ladanyi M, Robson M, Zehir A, Reis-Filho J S, Mandelker D

Abstract excerpt

BACKGROUND: Tumor-only sequencing, implemented for the identification of somatic variants, is oftentimes used for the detection of actionable germline variants. We sought to determine whether tumor-only sequencing assays are suitable for detection of actionable germline variants, given their importance for the delivery of targeted therapies and risk-reducing measures. PATIENTS AND METHODS: The detection of...

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Identifiers

PMID: 35074424
DOI: 10.1016/j.annonc.2022.01.006
PMCID: PMC9172914

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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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