Different Expressivity of BRCA1 and BRCA2: Analysis of 179 Italian Pedigrees with Identified Mutation View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2003-09

AUTHORS

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

ABSTRACT

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 regression model including age of diagnosis in the proband, presence of ovarian cancer in the family, presence of prostate or pancreatic cancer in the family, and presence of male breast cancer in the family proved to be effective in predicting the presence of a mutation in a gene rather than the other. Excess of familial aggregation of both breast and ovarian cancer was observed in both genes. Proportion of ovarian cancer was increased in the 5' portion of BRCA1, and presence of prostate or pancreatic cancer in a family was correlated with presence of ovarian cancer in BRCA2. More... »

PAGES

71-79

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1023/a:1025428807472

DOI

http://dx.doi.org/10.1023/a:1025428807472

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1017538582

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/14531499


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