Familial aggregations of breast/ovarian cancer cases frequently depend on BRCA1/2 pathogenic mutations. Here we counselled 120 Italian breast/ovarian cancer families and selected 73 probands for BRCA1/2 mutation screening. Through this analysis we defined the prevalence of BRCA1/2 pathogenic mutations occurring in Italian breast/ovarian cancer families, enlarged the spectrum of Italian BRCA1/2 mutations by 15% and report on the identification of 13 novel variants, including two deleterious truncating mutations and two potentially pathogenic missense mutations, on the BRCA1 and BRCA2 genes. Finally in hereditary breast cancer families with three or more female breast cancer cases we observed a low mutation prevalence and a significant association with BRCA2 mutations.
Novel BRCA1 and BRCA2 germline mutations and assessment of mutation spectrum and prevalence in Italian breast and/or ovarian cancer families / Giannini, Giuseppe; Elisabetta, Ristori; Enrico, Ricevuto; Tina, Sidoni; Buffone, Amelia; Cortesi, Enrico; Marchetti, Paolo; Giovanni, Scambia; Tomao, Silverio; Christian, Rinaldi; Zani, Massimo; Ferraro, Sergio; Frati, Luigi; Screpanti, Isabella; Gulino, Alberto. - In: BREAST CANCER RESEARCH AND TREATMENT. - ISSN 0167-6806. - STAMPA. - 100:1(2006), pp. 83-91. [10.1007/s10549-006-9225-9]
Novel BRCA1 and BRCA2 germline mutations and assessment of mutation spectrum and prevalence in Italian breast and/or ovarian cancer families
GIANNINI, Giuseppe;BUFFONE, AMELIA;CORTESI, Enrico;MARCHETTI, PAOLO;TOMAO, SILVERIO;ZANI, Massimo;FERRARO, Sergio;FRATI, Luigi;SCREPANTI, Isabella;GULINO, Alberto
2006
Abstract
Familial aggregations of breast/ovarian cancer cases frequently depend on BRCA1/2 pathogenic mutations. Here we counselled 120 Italian breast/ovarian cancer families and selected 73 probands for BRCA1/2 mutation screening. Through this analysis we defined the prevalence of BRCA1/2 pathogenic mutations occurring in Italian breast/ovarian cancer families, enlarged the spectrum of Italian BRCA1/2 mutations by 15% and report on the identification of 13 novel variants, including two deleterious truncating mutations and two potentially pathogenic missense mutations, on the BRCA1 and BRCA2 genes. Finally in hereditary breast cancer families with three or more female breast cancer cases we observed a low mutation prevalence and a significant association with BRCA2 mutations.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.