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Article

Validation of an NGS Approach for Diagnostic BRCA1/BRCA2 Mutation Testing.

Molecular diagnosis & therapy - 1 Apr 2015

Dacheva Daniela, Dodova Rumyana, Popov Ivan, Goranova Teodora, Mitkova Atanaska, Mitev Vanio, Kaneva Radka

Abstract excerpt

BACKGROUND AND OBJECTIVE: Pathogenic mutations in BRCA1/2 tumor suppressor genes increase the lifetime risk for developing breast and ovarian cancer. The aim of the present study was to evaluate the sensitivity and specificity of the Ion Torrent PGM™ for diagnostic mutation screening of BRCA1/2 genes. METHODS: In the current study we included a cohort of 58 Bulgarian high-risk breast cancer patients to validate a...

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Source

Identifiers

PMID: 25893891
DOI: 10.1007/s40291-015-0136-5

Genes

BRCA1
BRCA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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