Molecular Diagnosis of Pancreatic Cancer: Review Series

International Registries of Families at High Risk of Pancreatic Cancer
William Greenhalf^a, Nuria Malats^b, Magnus Nilsson^c, Detlef Bartsch^d, John Neoptolemos<sup>a

a</sup>Division of Surgery, University of Liverpool, Liverpool, UK;
^bSpanish National Cancer Research Centre, Madrid, Spain;
^cKarolinska Institute, Stockholm, Sweden;
^dDepartment of General Surgery, Städtische Kliniken Bielefeld-Mitte, Bielefeld, Germany

Address of Corresponding Author

Pancreatology 2008;8:558-565 (DOI: 10.1159/000159214)

  Key Words

• Familial pancreatic cancer
• Hereditary pancreatitis
• Screening

  Abstract

Purpose: To describe the need for multinational registries of families at high risk of pancreatic cancer and the issues surrounding identification of such families. Results: A consensus position was published describing surveillance of individuals at high risk of pancreatic cancer. Hereditary pancreatitis patients, people with Peutz-Jeghers syndrome, individuals with CDKN2A or BRCA1/2 mutations with a family history of pancreatic cancer and kindred with multiple pancreatic cancers were considered suitable for research-based screening. Mutations responsible for familial predisposition are mostly unknown, although BRCA2 mutations have been identified in some families and a mutation in the palladin gene has been shown to segregate with pancreatic cancer in one kindred. Specific autosomal dominant inheritance of pancreatic cancer risk seems to involve anticipation; this finding aids identification of families and determination of individual risk. Diabetes mellitus is an early symptom of pancreatic cancer, but recent publications suggest that it may not be a significant predisposing factor; this remains controversial. However, in the context of hereditary pancreatitis, diabetes probably does predispose to pancreatic cancer as shown in a recent description of French families. Conclusion: Appropriate inclusion of patients within registries of high-risk families provides a framework for secondary screening and research on risk stratification and early tumorigenesis.

Copyright © 2008 S. Karger AG, Basel and IAP

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  Author Contacts

Dr William Greenhalf
Division of Surgery and Oncology, University of Liverpool
5th Floor, UCD Building, Royal Liverpool University Hospital
Daulby Street, Liverpool L69 3GA (UK)
Tel. +44 151 706 4184, Fax +44 151 706 5826, E-Mail greenhaf@liv.ac.uk

  Article Information

Published online: September 26, 2008
Number of Print Pages : 8
Number of Figures : 1, Number of Tables : 0, Number of References : 50

  Publication Details

Pancreatology

Vol. 8, No. 6, Year 2008 (Cover Date: October 2008)

Journal Editor: Urrutia R. (Rochester, Minn.)
ISSN: 1424-3903 (Print), eISSN: 1424-3911 (Online)

For additional information: http://www.karger.com/PAN

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