title: Breast MR imaging screening in eight women proved or suspected to be carriers of BRCA1&2 gene mutations.
abstract: The aim of this study was to evaluate the efficacy of MR imaging for the early detection of breast tumor in women at high genetic risk compared to conventional strategies such as ultrasonography and mammography. This study included 8 women, 5 of which had undergone surgery for breast cancer. BRCA germ line mutations were detected in 7 women, one patient was enrolled for more than 50% probability to be carrier of BRCA mutation. RM imaging screening was negative in 7 patients and strongly indicative of a malignant lesion in one. The gold standard was surgery for the suspicious cases and follow-up with clinical examination and conventional imaging every six months for the others. MR imaging proved itself to be a reliable technique in familial breast cancer high risk women.
authors.affiliation: Division of Diagnostic and Interventional Radiology, Dept. of Oncology, Transplants and Advanced Technologies in Medicine, University of Pisa and Azienda Ospedaliera Pisana, Pisa, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Cilotti
authors.forename: M A
authors.initials: MA
authors.lastname: Caligo
authors.forename: G
authors.initials: G
authors.lastname: Cipollini
authors.forename: D
authors.initials: D
authors.lastname: Francesca
authors.forename: C
authors.initials: C
authors.lastname: Marini
authors.forename: M
authors.initials: M
authors.lastname: Moretti
authors.forename: M
authors.initials: M
authors.lastname: Roncella
authors.forename: C
authors.initials: C
authors.lastname: Bartolozzi
authors.forename: G
authors.initials: G
authors.lastname: Bevilacqua
mesh_terms: D000328:Adult; D001943:Breast Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D004252:DNA Mutational Analysis; D005260:Female; D005500:Follow-Up Studies; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006579:Heterozygote; D006801:Humans; D008279:Magnetic Resonance Imaging; D008327:Mammography; D008403:Mass Screening; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D016217:Ultrasonography, Mammary