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Article

Detection of genomic variations in BRCA1 and BRCA2 genes by long-range PCR and next-generation sequencing.

The Journal of molecular diagnostics : JMD - 1 Jan 2000

Hernan Imma, Borràs Emma, de Sousa Dias Miguel, Gamundi María José, Mañé Begoña, Llort Gemma, Agúndez José A G, Blanca Miguel, Carballo Miguel

Abstract excerpt

Advances in sequencing technologies, such as next-generation sequencing (NGS), represent an opportunity to perform genetic testing in a clinical scenario. In this study, we developed and tested a method for the detection of mutations in the large BRCA1 and BRCA2 tumor suppressor genes, using long-range PCR (LR-PCR) and NGS, in samples from individuals with a personal and/or family history of breast and/or ovarian...

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Source

Identifiers

PMID: 22426013
DOI: 10.1016/j.jmoldx.2012.01.013

Genes

BRCA1
BRCA2

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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