title: Novel BRCA1 and BRCA2 germline mutations and assessment of mutation spectrum and prevalence in Italian breast and/or ovarian cancer families.
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.
authors.affiliation: Department of Experimental Medicine and Pathology, University La Sapienza, Policlinico Umberto I Viale Regina Elena, 324, 00161 Rome, Italy. giuseppe.giannini@uniroma1.it
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Giannini
authors.forename: Carlo
authors.initials: C
authors.lastname: Capalbo
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Ristori
authors.forename: Enrico
authors.initials: E
authors.lastname: Ricevuto
authors.forename: Tina
authors.initials: T
authors.lastname: Sidoni
authors.forename: Amelia
authors.initials: A
authors.lastname: Buffone
authors.forename: Enrico
authors.initials: E
authors.lastname: Cortesi
authors.forename: Paolo
authors.initials: P
authors.lastname: Marchetti
authors.forename: Giovanni
authors.initials: G
authors.lastname: Scambia
authors.forename: Silverio
authors.initials: S
authors.lastname: Tomao
authors.forename: Christian
authors.initials: C
authors.lastname: Rinaldi
authors.forename: Massimo
authors.initials: M
authors.lastname: Zani
authors.forename: Sergio
authors.initials: S
authors.lastname: Ferraro
authors.forename: Luigi
authors.initials: L
authors.lastname: Frati
authors.forename: Isabella
authors.initials: I
authors.lastname: Screpanti
authors.forename: Alberto
authors.initials: A
authors.lastname: Gulino
mesh_terms: D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000453:epidemiology / Q000209:etiology / Q000235:genetics*; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D010051:Ovarian Neoplasms / Q000453:epidemiology / Q000209:etiology / Q000235:genetics*; D010375:Pedigree; D015995:Prevalence
chemical_list: D019313:BRCA1 Protein; D024682:BRCA2 Protein