Update of Familial Pancreatic Cancer in GermanyBartsch D.K.a · Sina-Frey M.b · Ziegler A.c · Hahn S.A.d · Przypadlo E.a,c · Kress R.c · Gerdes B.a · Rieder H.b
Departments of aSurgery and bClinical Genetics, cInstitute of Medical Biometry and Epidemiology, Philipps University of Marburg, dDepartment of Internal Medicine, Ruhr University of Bochum, Germany
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Background/Aims: The prevalence of familial pancreatic cancer (FPC) and the characteristics of FPC have not yet been well investigated in the German population. Therefore, a German case collection for FPC was established in July 1999 to collect and evaluate data on FPC families. Methods: The prevalence of pancreatic cancer (PC) as well as other tumours and diseases was studied in families with at least 2 first-degree relatives with histologically confirmed PC, and in families of patients with PC and a first-degree relative with malignant melanoma. All participating family members were genetically counselled and evaluated by a standardised questionnaire. Results: In an 18-month period, 73 independent kindreds with potential FPC contacted the national case collection. So far, 20 kindreds have fulfilled the criteria for FPC and have undergone complete workups. Most families revealed an autosomal dominant pattern of inheritance. Twelve families revealed an isolated accumulation of PC. Importantly, in 8 of 20 (35%) families, additional tumour types such as melanoma, breast and prostate cancer occurred. Conclusion: The observed phenotypic heterogeneity indicates an association with predisposing tumour suppressor genes p16 and BRCA2 in up to 30% of FPC families. Mutation analysis of these candidate genes might lead to the identification of the predisposing gene defect in a proportion of FPC families.
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