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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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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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creator	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
description	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.
doi_str_mv	10.1007/s10549-006-9225-9
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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
title	Novel BRCA1 and BRCA2 germline mutations and assessment of mutation spectrum and prevalence in Italian breast and/or ovarian cancer families
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