Novel BRCA1 and BRCA2 germline mutations and assessment of mutation spectrum and prevalence in Italian breast and/or ovarian cancer families

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 mutatio...

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Bibliographic Details
Published in:Breast cancer research and treatment 2006-11, Vol.100 (1), p.83-91
Main Authors: GIANNINI, Giuseppe, CAPALBO, Carlo, RINALDI, Christian, ZANI, Massimo, FERRARO, Sergio, FRATI, Luigi, SCREPANTI, Isabella, GULINO, Alberto, RISTORI, Elisabetta, RICEVUTO, Enrico, SIDONI, Tina, BUFFONE, Amelia, CORTESI, Enrico, MARCHETTI, Paolo, SCAMBIA, Giovanni, TOMAO, Silverio
Format: Article
Language:English
Subjects:
Biological and medical sciences
BRCA1 Protein - genetics
BRCA2 Protein - genetics
Breast cancer
Breast Neoplasms - epidemiology
Breast Neoplasms - etiology
Breast Neoplasms - genetics
Cancer research
Female
Female genital diseases
Genes, BRCA1
Genes, BRCA2
Genetic Predisposition to Disease
Germ-Line Mutation
Gynecology. Andrology. Obstetrics
Humans
Italy - epidemiology
Male
Mammary gland diseases
Medical sciences
Ovarian cancer
Ovarian Neoplasms - epidemiology
Ovarian Neoplasms - etiology
Ovarian Neoplasms - genetics
Pedigree
Prevalence
Tumors
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Summary: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.
ISSN:0167-6806
1573-7217
DOI:10.1007/s10549-006-9225-9