Update of Familial Pancreatic Cancer in GermanyBartsch D.K. · Sina-Frey M. · Ziegler A. · Hahn S.A. · Przypadlo E. · Kress R. · Gerdes B. · Rieder H.
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
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.
D.K. Bartsch, MD
Department of Surgery, Philipps University of Marburg
Baldingerstrasse, D–35033 Marburg (Germany)
Tel. +49 6421 28662572, Fax +49 6421 2868995
Number of Print Pages : 7
Number of Figures : 3, Number of Tables : 2, Number of References : 31
Official Publication of the International Association of Pancreatology (IAP); Official Publication of the European Pancreatic Club (EPC); Official Publication of the Spanish Pancreatic Club; Official Publication of the Club Português do Pancreas; Official Publication of the Pancreatic Society of Great Britain and Ireland; Official Publication of the Associazione Italiana per lo Studio del Pancreas
Vol. 1, No. 5, Year 2001 (Cover Date: 2001)Formerly International Journal of Pancreatology
Journal Editor: Manfred V. Singer, Mannheim; Clem W. Imrie, Glasgow
ISSN: 1424–3903 (print), 1424–3911 (Online)
For additional information: http://www.karger.com/journals/pan