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Setting a diagnostic benchmark for tumor BRCA testing: detection of BRCA1 and BRCA2 large genomic rearrangements in FFPE tissue - A pilot study.

Experimental and molecular pathology - 1 Dec 2021

Valtcheva Nadejda, Nguyen-Sträuli Bich Doan, Wagner Ulrich, Freiberger Sandra N, Varga Zsuzsanna, Britschgi Christian, Dedes Konstantin J, Rechsteiner Markus P

Abstract excerpt

PARP inhibitors are used for treatment of tumors lacking function of the double-strand DNA break repair proteins BRCA1 or BRCA2 and are already approved for several cancer types. Thus, it is clinically crucial to determine germline as well as somatic BRCA1/2 mutations in those patients. The amplicon-based Oncomine BRCA1 and BRCA2 Assay is a test routinely used in diagnostics with FFPE specimens. The assay is...

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Identifiers

PMID: 34637782
DOI: 10.1016/j.yexmp.2021.104705

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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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