Different expressivity of BRCA1 and BRCA2: analysis of 179 Italian pedigrees with identified mutation.

doi:10.1023/a:1025428807472

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Article

Different expressivity of BRCA1 and BRCA2: analysis of 179 Italian pedigrees with identified mutation.

Breast cancer research and treatment - 1 Sept 2003

Aretini Paolo, D'Andrea Emma, Pasini Barbara, Viel Alessandra, Mariani Costantini Renato, Cortesi Laura, Ricevuto Enrico, Agata Simona, Bisegna Roberta, Boiocchi Mauro, Caligo Maria Adelaide, Chieco-Bianchi Luigi, Cipollini Giovanna, Crucianelli Rosella, D'Amico Cristina, Federico Massimo, Ghimenti Chiara, De Giacomi Clelia, De Nicolo Arcangela, Della Puppa Lara, Ferrari Sergio, Ficorella Corrado, Iandolo Davide, Manoukian Siranoush, Marchetti Paolo, Marroni Fabio, Menin Chiara, Montagna Marco, Ottini Laura, Pensotti Valeria, Pierotti Marco, Radice Paolo, Santarosa Manuela, Silingardi Vittorio, Turchetti Daniela, Bevilacqua Generoso, Presciuttini Silvano

Abstract excerpt

Mutations in BRCA1 and BRCA2 show different expressivity with respect to cancer risk, and allelic heterogeneity may be present in both genes. We collected 179 pedigrees with identified germline mutation (104 BRCA1 and 75 BRCA2), ascertained in six collaborating centers of the Italian Consortium for Hereditary Breast and Ovarian Cancer. Significant heterogeneity was detected for several variables, and a logistic...

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Identifiers

PMID: 14531499
DOI: 10.1023/a:1025428807472

Genes

BRCA1
BRCA2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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