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Novel BRCA1 and BRCA2 germline mutations and assessment of mutation spectrum and prevalence in Italian breast and/or ovarian cancer families.

Breast cancer research and treatment - 1 Nov 2006

Giannini Giuseppe, Capalbo Carlo, Ristori Elisabetta, Ricevuto Enrico, Sidoni Tina, Buffone Amelia, Cortesi Enrico, Marchetti Paolo, Scambia Giovanni, Tomao Silverio, Rinaldi Christian, Zani Massimo, Ferraro Sergio, Frati Luigi, Screpanti Isabella, Gulino Alberto

Abstract excerpt

Familial aggregations of breast/ovarian cancer cases frequently depend on BRCA1/2 pathogenic mutations. Here we counselled 120 Italian breast/ovarian cancer families and selected 73 probands for BRCA1/2 mutation screening. Through this analysis we defined the prevalence of BRCA1/2 pathogenic mutations occurring in Italian breast/ovarian cancer families, enlarged the spectrum of Italian BRCA1/2 mutations by 15%...

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Identifiers

PMID: 16847550
DOI: 10.1007/s10549-006-9225-9

Genes

BRCA1
BRCA2

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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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