Test genetico per il tumore mammario ereditario: Qual è l'interesse nella popolazione?

Aim. The interest of the general population in genetic testing for cancer susceptibility has an important rôle in planning molecular screening programmes. Only in recent years has a genetic test been available for the evaluation of BRCA1 and BRCA2 mutations in breast cancer patients, and it is currently performed only in a few specialized Institutes. Although the clinical relevance of this test is undeniable, we have no evidence on its acceptability by the population nor on the social and cultural implications related to this laboratory investigation. Methods. In this paper we have considered several international studies, mainly from the United States, that analysed this aspect before and after the test became available. The research was principally focussed on previously reported investigations on psychological involvement in health problems. Results. Most of the studies indicated high interest in genetic testing both of the general population and of patients with familial history of breast cancer.