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Article

Sequencing of BRCA1/2-alterations using NGS-based technology: annotation as a challenge.

Oncotarget - 1 Jan 2022

Ebner Silvana, Winkelmann Ria, Martin Saskia, Köllermann Jens, Wild Peter J, Demes Melanie

Abstract excerpt

In this study, the molecular profile of different BRCA-associated tumor types was assessed with regard to the classification and annotation of detected BRCA1/2 variants. The aim was to establish guidelines in order to facilitate the interpretation of BRCA1/2 alterations in routine diagnostics. Annotation of detected variants was evaluated compared to background mutations found in normal tissue samples and...

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Identifiers

PMID: 35251494
DOI: 10.18632/oncotarget.28213
PMCID: PMC8893798

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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