1. Novel BRCA1 and BRCA2 germline mutations and assessment of mutation spectrum and prevalence in Italian breast and/or ovarian cancer families
- Author
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Amelia Buffone, Paolo Marchetti, Elisabetta Ristori, Silverio Tomao, Luigi Frati, Carlo Capalbo, Tina Sidoni, Giovanni Scambia, Massimo Zani, Giuseppe Giannini, Sergio Ferraro, Christian Rinaldi, Alberto Gulino, Isabella Screpanti, Enrico Cortesi, and Enrico Ricevuto
- Subjects
Proband ,Male ,Cancer Research ,endocrine system diseases ,Tumor suppressor gene ,Mammary gland ,Genes, BRCA2 ,Genes, BRCA1 ,Breast Neoplasms ,Biology ,medicine.disease_cause ,Breast cancer ,Germline mutation ,medicine ,Prevalence ,Missense mutation ,Humans ,genetics ,Genetic Predisposition to Disease ,BRCA1 Protein ,genetics, BRCA2 Protein ,genetics, Breast Neoplasms ,epidemiology/etiology/genetics, Female, Genes ,BRCA1, Genes ,BRCA2, Genetic Predisposition to Disease, Germ-Line Mutation, Humans, Italy ,epidemiology, Male, Ovarian Neoplasms ,epidemiology/etiology/genetics, Pedigree, Prevalence ,skin and connective tissue diseases ,Germ-Line Mutation ,Genetics ,BRCA2 Protein ,Ovarian Neoplasms ,epidemiology/etiology/genetics ,Mutation ,BRCA1 ,medicine.disease ,BRCA2 ,Pedigree ,medicine.anatomical_structure ,Genes ,Oncology ,Italy ,epidemiology ,Female ,Ovarian cancer - 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.
- Published
- 2006