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International Journal of Colorectal Disease

, Volume 29, Issue 2, pp 139–145 | Cite as

Familial pancreatic cancer—status quo

  • Volker Fendrich
  • Peter Langer
  • Detlef K. Bartsch
Review

Abstract

Introduction

Familial pancreatic cancer (FPC) is defined by families with at least two first-degree relatives with confirmed pancreatic ductal adenocarcinoma (PDAC) that do not fulfill the criteria of other inherited tumor syndromes with an increased risk for the development of PDAC, such as hereditary pancreatitis or hereditary breast and ovarian cancer. FPC is mostly autosomal dominant inherited and presents with a heterogeneous phenotype. Although the major gene defect has not yet been identified, some important germline mutations in the BRCA2-, PALB2-, and ATM-genes are causative in some FPC families.

FPC screening

It is suggested by experts to include high-risk individuals in a screening program with a multidisciplinary approach under research protocol conditions. However, neither biomarkers nor reliable imaging modalities for the detection of high-grade precursor lesions are yet available. Most screening programs are currently based on endoscopic ultrasound and magnetic resonance imaging, and first data demonstrated that precursor lesions (pancreatic intraepithelial neoplasia, intraductal papillary mucinous neoplasm) of PDAC can be identified. Timing and extent of surgery are still a matter of debate.

Scope of the review

The present review focuses on the clinical phenotype of FPC, its histopathological characteristics, known underlying genetic changes, genetic counseling, and screening.

Keywords

Familial pancreatic cancer Mutation Genetics Screening PanIN IPMN Pancreatectomy 

Notes

Acknowledgments

Funding for this study was through a grant of the Deutsche Krebshilfe (no. 109126) to VF, PL, and DKB.

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Copyright information

© Springer-Verlag Berlin Heidelberg 2013

Authors and Affiliations

  • Volker Fendrich
    • 1
  • Peter Langer
    • 1
  • Detlef K. Bartsch
    • 1
  1. 1.National Case Collection of Familial Pancreatic Cancer of the Deutsche Krebshilfe (FaPaCa), Department of SurgeryPhilipps-University MarburgMarburgGermany

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