Author/Authors :
Papi، نويسنده , , Laura and Palli، نويسنده , , Domenico and Masi، نويسنده , , Laura and Putignano، نويسنده , , Anna Laura and Congregati، نويسنده , , Caterina and Zanna، نويسنده , , Ines and Marini، نويسنده , , Francesca and Giusti، نويسنده , , Francesca and Luzi، نويسنده , , Ettore and Tonelli، نويسنده , , Francesco and Genuardi، نويسنده , , Maurizio and Brandi، نويسنده , , Maria Luisa and Falch، نويسنده ,
Abstract :
The simultaneous occurrence of mutations in two different tumor suppressor genes in the same individual is a very rare event. Here we report the case of a woman in whom germline mutations in both MEN1 and BRCA1 were identified. The severity of MEN1-related biochemical and clinical findings did not significantly differ from that for other affected family members lacking the BRCA1 mutation, except for the development of an extremely large visceral lipoma; the proband has not developed any BRCA1-related malignancies. We explore genetic and molecular rationales for an association between these neoplastic processes.
