TY - JOUR
T1 - Different expressivity of BRCA1 and BRCA2
T2 - Analysis of 179 Italian pedigrees with identified mutation
AU - Aretini, Paolo
AU - D'Andrea, Emma
AU - Pasini, Barbara
AU - Viel, Alessandra
AU - Costantini, Renato Mariani
AU - Cortesi, Laura
AU - Ricevuto, Enrico
AU - Agata, Simona
AU - Bisegna, Roberta
AU - Boiocchi, Mauro
AU - Caligo, Maria Adelaide
AU - Chieco-Bianchi, Luigi
AU - Cipollini, Giovanna
AU - Crucianelli, Rosella
AU - D'Amico, Cristina
AU - Federico, Massimo
AU - Ghimenti, Chiara
AU - De Giacomi, Clelia
AU - De Nicolo, Arcangela
AU - Della Puppa, Lara
AU - Ferrari, Sergio
AU - Ficorella, Corrado
AU - Iandolo, Davide
AU - Manoukian, Siranoush
AU - Marchetti, Paolo
AU - Marroni, Fabio
AU - Menin, Chiara
AU - Montagna, Marco
AU - Ottini, Laura
AU - Pensotti, Valeria
AU - Pierotti, Marco
AU - Radice, Paolo
AU - Santarosa, Manuela
AU - Silingardi, Vittorio
AU - Turchetti, Daniela
AU - Bevilacqua, Generoso
AU - Presciuttini, Silvano
PY - 2003/9
Y1 - 2003/9
N2 - 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 BRCAI, and presence of prostate or pancreatic cancer in a family was correlated with presence of ovarian cancer in BRCA2.
AB - 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 BRCAI, and presence of prostate or pancreatic cancer in a family was correlated with presence of ovarian cancer in BRCA2.
KW - Allelic heterogeneity
KW - BRCA1
KW - BRCA2
KW - Expressivity
KW - Hereditary breast/ovarian cancer
KW - Pedigree analysis
UR - https://www.scopus.com/pages/publications/10744231192
U2 - 10.1023/A:1025428807472
DO - 10.1023/A:1025428807472
M3 - Article
C2 - 14531499
AN - SCOPUS:10744231192
SN - 0167-6806
VL - 81
SP - 71
EP - 79
JO - Breast Cancer Research and Treatment
JF - Breast Cancer Research and Treatment
IS - 1
ER -
