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Article

Fast Detection of a BRCA2 Large Genomic Duplication by Next Generation Sequencing as a Single Procedure: A Case Report.

International journal of molecular sciences - 22 Nov 2017

Nunziato Marcella, Starnone Flavio, Lombardo Barbara, Pensabene Matilde, Condello Caterina, Verdesca Francesco, Carlomagno Chiara, De Placido Sabino, Pastore Lucio, Salvatore Francesco, D'Argenio Valeria

Abstract excerpt

The aim of this study was to verify the reliability of a next generation sequencing (NGS)-based method as a strategy to detect all possible BRCA mutations, including large genomic rearrangements. Genomic DNA was obtained from a peripheral blood sample provided by a patient from Southern Italy with early onset breast cancer and a family history of diverse cancers. BRCA molecular analysis was performed by NGS, and...

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Source

Open in PubMed Open full text

Identifiers

PMID: 29165356
DOI: 10.3390/ijms18112487
PMCID: PMC5713453

Genes

BRCA2
BRCA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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