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

Impact of Environmental Exposures on Tumor Risk in Subjects at Risk of Hereditary SDHx-related Paragangliomas - National Study

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

Inclusion Criteria:

• Cases: SDHx mutation carriers diagnosed for a SDHx-related tumor
• Controls: SDHx mutation carriers with no SDHx-related tumor

Exclusion Criteria:

• Incapacity to exercise free and informed consent for the study
• Patient under tutorship or guardianship or legal safeguard