Clinical Research Directory

French National Cohort of Patients With PRSS1 Mutations

Sponsor: Assistance Publique - Hôpitaux de Paris

Summary

The diagnosis of hereditary pancreatitis (PH) is based on a genetic criterion - detection of a mutation in the PRSS1 gene or on a genealogical criterion - the presence of chronic pancreatitis in at least 2 first-degree relatives or at least 3 relatives in the second degree, in the absence of other identified predisposing factors (notably chronic alcohol consumption). It is now recommended to seek PH in cases of pancreatitis of unknown origin in a young patient or with a family history. In this study, patients carrying a PRSS1 mutation will be identified from the patient lists of the three French genetics laboratories (Brest University Hospital, Cochin-Paris University Hospital, Lille University Hospital) carrying out PRSS1 gene analysis. Patients will be included by the doctors currently treating them. The aim of the study is to assess the incidence of pancreatic adenocarcinoma in the cohort and describe the natural history of hereditary pancreatitis linked to a mutation in PRSS1.

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