Different expressivity of BRCA1 and BRCA2: analysis of 179 Italian pedigrees with identified mutation
- Aretini, P
- D'Andrea, E
- Pasini, B
- Viel, A
- Costantini, Rm
- Cortesi, L
- Ricevuto, E
- Agata, S
- Bisegna, R
- Boiocchi, M
- Caligo, Ma
- CHIECO BIANCHI, L
- Cipollini, G
- Crucianelli, R
- D'Amico, C
- Federico, M
- Ghimenti, C
- DE GIACOMI, C
- DE NICOLO, A
- DELLA PUPPA, L
- Ferrari, S
- Ficorella, C
- Iandolo, D
- Manoukian, S
- Marchetti, Paolo
- Marroni, F
- Menin, C
- Montagna, M
- Ottini, Laura
- Pensotti, V
- Pierotti, M
- Radice, P
- Santarosa, M
- Silingardi, V
- Turchetti, D
- Bevilacqua, G
- Presciuttini, S.
DOIAbstract
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...
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