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BRCA1-2 diagnostic workflow from next-generation sequencing technologies to variant identification and final report.

Genes, chromosomes & cancer - 1 Oct 2016

Pilato Brunella, Pinto Rosamaria, De Summa Simona, Petriella Daniela, Lacalamita Rosanna, Danza Katia, Paradiso Angelo, Tommasi Stefania

Abstract excerpt

The BRCA1-BRCA2 genes predispose to hereditary breast and ovarian cancer, and the germline and mutational status of these genes defines a target population that can benefit from PARP inhibitor treatments. To respond to the increasing number of BRCA1-BRCA2 tests, it is necessary to shift to high-throughput technologies that are reliable and less time consuming. Different methodological platforms are dedicated to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27225819
DOI: 10.1002/gcc.22383

Genes

BRCA1
BRCA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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