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Article

Tracking of the origin of recurrent mutations of the BRCA1 and BRCA2 genes in the North-East of Italy and improved mutation analysis strategy.

BMC medical genetics - 6 Feb 2016

Cini Giulia, Mezzavilla Massimo, Della Puppa Lara, Cupelli Elisa, Fornasin Alessio, D'Elia Angela Valentina, Dolcetti Riccardo, Damante Giuseppe, Bertok Sara, Miolo Gianmaria, Maestro Roberta, de Paoli Paolo, Amoroso Antonio, Viel Alessandra

Abstract excerpt

BACKGROUND: About 20 % of hereditary breast cancers are caused by mutations in BRCA1 and BRCA2 genes. Since BRCA1 and BRCA2 mutations may be spread throughout the gene, genetic testing is usually performed by direct sequencing of entire coding regions. In some populations, especially if relatively isolated, a few number of recurrent mutations is reported, sometimes caused by founder effect. METHODS: BRCA1 and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 26852130
DOI: 10.1186/s12881-016-0274-6
PMCID: PMC4744627

Genes

BRCA2
BRCA1

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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