21 research outputs found
Hereditary non-polyposis colorectal cancer: current risks of colorectal cancer largely overestimated
Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers
Glucocerebrosidase (GBA) gene mutations represent a strong risk factor for Parkinson disease (PD). PD penetrance in GBA mutation carriers, which represents a key issue for genetic counseling, especially for relatives of patients with Gaucher disease (GD), is unknown. Our objective was to estimate PD penetrance in a familial study of GBA mutation carriers