title: Different expressivity of BRCA1 and BRCA2: analysis of 179 Italian pedigrees with identified mutation.
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.
authors.affiliation: Section of Oncogenetics, Division of Surgical, Molecular and Ultrastructural Pathology, Department of Oncology, University of Pisa, Pisa, Italy. p.aretini@med.unipi.it
authors.forename: Paolo
authors.initials: P
authors.lastname: Aretini
authors.forename: Emma
authors.initials: E
authors.lastname: D'Andrea
authors.forename: Barbara
authors.initials: B
authors.lastname: Pasini
authors.forename: Alessandra
authors.initials: A
authors.lastname: Viel
authors.forename: Renato
authors.initials: R
authors.lastname: Mariani Costantini
authors.forename: Laura
authors.initials: L
authors.lastname: Cortesi
authors.forename: Enrico
authors.initials: E
authors.lastname: Ricevuto
authors.forename: Simona
authors.initials: S
authors.lastname: Agata
authors.forename: Roberta
authors.initials: R
authors.lastname: Bisegna
authors.forename: Mauro
authors.initials: M
authors.lastname: Boiocchi
authors.forename: Maria Adelaide
authors.initials: MA
authors.lastname: Caligo
authors.forename: Luigi
authors.initials: L
authors.lastname: Chieco-Bianchi
authors.forename: Giovanna
authors.initials: G
authors.lastname: Cipollini
authors.forename: Rosella
authors.initials: R
authors.lastname: Crucianelli
authors.forename: Cristina
authors.initials: C
authors.lastname: D'Amico
authors.forename: Massimo
authors.initials: M
authors.lastname: Federico
authors.forename: Chiara
authors.initials: C
authors.lastname: Ghimenti
authors.forename: Clelia
authors.initials: C
authors.lastname: De Giacomi
authors.forename: Arcangela
authors.initials: A
authors.lastname: De Nicolo
authors.forename: Lara
authors.initials: L
authors.lastname: Della Puppa
authors.forename: Sergio
authors.initials: S
authors.lastname: Ferrari
authors.forename: Corrado
authors.initials: C
authors.lastname: Ficorella
authors.forename: Davide
authors.initials: D
authors.lastname: Iandolo
authors.forename: Siranoush
authors.initials: S
authors.lastname: Manoukian
authors.forename: Paolo
authors.initials: P
authors.lastname: Marchetti
authors.forename: Fabio
authors.initials: F
authors.lastname: Marroni
authors.forename: Chiara
authors.initials: C
authors.lastname: Menin
authors.forename: Marco
authors.initials: M
authors.lastname: Montagna
authors.forename: Laura
authors.initials: L
authors.lastname: Ottini
authors.forename: Valeria
authors.initials: V
authors.lastname: Pensotti
authors.forename: Marco
authors.initials: M
authors.lastname: Pierotti
authors.forename: Paolo
authors.initials: P
authors.lastname: Radice
authors.forename: Manuela
authors.initials: M
authors.lastname: Santarosa
authors.forename: Vittorio
authors.initials: V
authors.lastname: Silingardi
authors.forename: Daniela
authors.initials: D
authors.lastname: Turchetti
authors.forename: Generoso
authors.initials: G
authors.lastname: Bevilacqua
authors.forename: Silvano
authors.initials: S
authors.lastname: Presciuttini
mesh_terms: D001943:Breast Neoplasms / Q000235:genetics*; D005260:Female; D015972:Gene Expression Regulation, Neoplastic; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease; D005838:Genotype; D018095:Germ-Line Mutation; D006801:Humans; D007558:Italy; D008297:Male; D010375:Pedigree; D010641:Phenotype; D012044:Regression Analysis; D012307:Risk Factors