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
Cases: SDHx mutation carriers diagnosed for a SDHx-related tumor
Controls: SDHx mutation carriers with no SDHx-related tumor
Incapacity to exercise free and informed consent for the study
Patient under tutorship or guardianship or legal safeguard
650 cases and 650 controls will be enrolled in different French referral centers where they are regularly managed and followed for a SDHx-related tumor risk. They will be matched on their date of birth
Case-control
Prospective
Not listed
Impact of SDHi exposure in paraganglioma occurence
Association between exposures and tumor occurrence measure with Odd ratio
Spatial distribution of cases
Spatial distribution of tumor incidence
Incidence rate in France of pathologies linked to SDHx gene mutations
Incidence rate in France of pathologies linked to SDHx gene mutations
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Assistance Publique - Hôpitaux de Paris
Lead sponsor
Institut National de la Santé Et de la Recherche Médicale, France
Collaborator
ANSES
Collaborator
Centre Leon Berard
Collaborator
