Diagnostic imaging in the clinical management of patients at high risk for breast cancer.
Although being predominantly anecdotal, breast carcinoma shows a considerable component of multifactorial genetic transmission, referable to dominant autosomal inheritance. Among the genes responsible for hereditary breast cancer two main genes (BRCA1 and BRCA2) have already been identified. At present, genetic tests to identify known inherited mutations associated with breast tumor predisposition, are available. Asymptomatic subjects with genetic BRCA1/2 mutations represent a group at high risk; therefore it is now indispensable to work out adequate strategies of prevention and/or of early diagnosis. Besides education (information) and genetic counselling, there are three perspectives of intervention for these subjects: bilateral prophylactic surgery, pharmacologic prophylaxis and periodical diagnostic monitoring; unfortunately all of them are still burdened by limitations.
Pastore
Giovanna
G
Isituto di Radiologia, Università Cattolica del S. Cuore, Policlinico A. Gemelli, Largo A. Gemelli 8, 00168 Roma, Italy.
Canadè
Adolfo
A
Costantini
Melania
M
Terribile
Daniela
D
Nardone
Luigia
L
Belli
Paolo
P
D000328:Adult; D001943:Breast Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000517:prevention & control; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D008408:Mastectomy; D008875:Middle Aged; D009154:Mutation