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Article

Italian family with two independent mutations: 3358T/A in BRCA1 and 8756delA in BRCA2 genes.

European journal of human genetics : EJHG - 1 Mar 2003

Cortesi Laura, Turchetti Daniela, Bertoni Chiara, Zanocco-Marani Tommaso, Vinceti Marco, Silvestri Chiara, Federico Massimo, Silingardi Vittorio, Ferrari Sergio

Abstract excerpt

Hereditary breast/ovarian cancer is a well-characterized clinical entity, largely attributed to the inheritance of BRCA1 or BRCA2 mutations. Among general population, the mutation's frequency of these genes is very low; therefore, the identification of two independent mutations in the same family is a rare event. This study reports the presence of two mutations, one in the BRCA1 and the second in the BRCA2 gene...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12673274
DOI: 10.1038/sj.ejhg.5200948

Genes

BRCA2
BRCA1

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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