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Article

Identification of the first case of germline duplication of BRCA1 exon 13 in an Italian family.

Familial cancer - 1 Sept 2010

Cerutti Roberta, Sahnane Nora, Carnevali Ileana, Furlan Daniela, Tibiletti Maria Grazia, Chiaravalli Anna Maria, Capella Carlo

Abstract excerpt

In this work we report for the first time a family in Italy with the BRCA1 ins6kbEx13 mutation, a recurrent founder mutation originating from northern Britain. After the initial identification of exon 13 duplication by multiplex ligation-dependent probe amplification (MLPA assay), we confirmed th...

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Source

Identifiers

PMID: 20041308
DOI: 10.1007/s10689-009-9315-z

Genes

BRCA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20041308-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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