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Article

Double heterozygosity in the BRCA1 and BRCA2 genes in Italian family.

Clinical chemistry and laboratory medicine - 1 Dec 2013

Vietri Maria Teresa, Molinari Anna Maria, Caliendo Gemma, De Paola Maria Laura, Giovanna D'Elia, Gambardella Anna Laura, Petronella Pasquale, Cioffi Michele

Abstract excerpt

BACKGROUND: Double heterozygosity (DH) is an extremely rare event in which both BRCA1 and BRCA2 are mutated simultaneously in a family. To date, few cases of DH have been reported, especially in Ashkenazi populations. In Italy some cases of DH have been reported. In this study, we have described an Italian family with double heterozygosity in the BRCA genes. METHODS: The proband is a 43-year-old woman with...

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Source

Identifiers

PMID: 23940062
DOI: 10.1515/cclm-2013-0263

Genes

BRCA2
BRCA1

Variants

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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