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Article

BRCA1 and BRCA2 mutations in breast/ovarian cancer patients from central Italy.

Human mutation - 1 Aug 2003

Stuppia L, Di Fulvio P, Aceto G, Pintor S, Veschi S, Gatta V, Colosimo A, Cianchetti E, Cama A, Mariani-Costantini R, Battista P, Palka G

Abstract excerpt

We report on the screening of the entire BRCA1/BRCA2 coding sequence by SSCP, PTT, and direct sequencing in 68 Italian families with recurrent breast or ovarian cancer. For each investigated proband, the probability of being carrier of a BRCA1/BRCA2 mutation was evaluated using the BRCAPRO software. We detected BRCA1/BRCA2 mutations in 8 patients (11.7%). However, if considering only patients with a carrier...

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Source

Identifiers

PMID: 12872265
DOI: 10.1002/humu.9164

Genes

BRCA1
BRCA2

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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