Impact of Environmental Exposures on Tumor Risk in SDHx-mutation Carriers

Overview

The primary objective of the PGL.EXPO-2 study is to test the hypothesis that exposure (occupational, environmental and/or domestic) to succinate dehydrogenase inhibitors (SDHi) could contribute to tumor emergence in subjects carrying a germline mutation in one of the SDHx genes.The primary endpoint will be the proportion of subjects (cases or controls) exposed to SDHi and the association with paraganglioma risk. In addition, a blood sample (10 ml on EDTA) will be proposed to the participants to the study

Patients will be selected from subjects with a mutation in one of the SDHx genes. The cases will have developed a tumor, while the controls will be tumor-free. Controls will be matched to the cases according to age and type of gene affected. Past exposures will be sought through a telephone questionnaire. In addition, a blood sample (10 ml on EDTA) will be proposed to the participants to the study

Conditions

Eligibility