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German national case collection for familial pancreatic cancer (FaPaCa): ten years experience

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Abstract

Familial pancreatic cancer (FPC) is a rare hereditary tumor syndrome. The 10-years experience of the national case collection for familial pancreatic cancer of Germany (FaPaCa) is reported. Since 1999 FaPaCa has collected families with at least two first-degree relatives with confirmed pancreatic cancer (PC), who did not fulfill the criteria of other hereditary tumor syndromes. Histopathological verification of tumor diagnoses, and genetic counseling were prerequisites for enrollment of families in FaPaCa. 94 of 452 evaluated families fulfilled the criteria for partaking in FaPaCa. PC represented the sole tumor entity in 38 (40%) families. In 56 families additional tumor types occurred, including breast cancer (n = 28), colon cancer (n = 20) and lung cancer (n = 11). In 70 (74%) families the pattern of inheritance was consistent with an autosomal dominant trait. Compared to the preceding generation, a younger age of onset was observed in the offspring of PC patients (median: 57 vs. 69 years), indicating anticipation. Mutation analyses of BRCA2, PALB2, CDKN2a, RNASEL, STK11, NOD2, CHEK2 and PALLD, revealed deleterious causative germline mutations of BRCA2 and PALB2 in 2 of 70 (3%) and 2 of 41 (4.9%) German FPC families, respectively. Prospective PC screening with EUS, MRI and MRCP detected precancerous lesions (IPMN, multifocal PanIN2/3) or carcinoma in 5.5% (4 of 72) to 12.5% (9 of 72) of individuals at risk, depending on histological verification. Appropriate inclusion of families at high risk for PC in registries, such as FaPaCa, provides a unique and excellent tool to gain clinical and genetic knowledge of FPC. Focused research projects can be conducted most efficiently, when data of different FPC registries are combined.

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Acknowledgments

We are grateful to all FPC families for participating in the registry. This study was supported by grants 70-2362-Ba2, 70-2828-Ba3 and 103709 of the Deutsche Krebshilfe.

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Authors and Affiliations

  1. Department of Visceral, Thoracic and Vascular Surgery, Philipps University Marburg, Baldingerstrasse, 35043, Marburg, Germany

    Ralph Schneider, Emily P. Slater, Nils Habbe, Volker Fendrich, Elvira Matthäi, Peter Langer & Detlef K. Bartsch

  2. Institute of Clinical Genetics, Philipps University Marburg, Marburg, Germany

    Mercede Sina

Authors
  1. Ralph Schneider
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  2. Emily P. Slater
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  3. Mercede Sina
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  4. Nils Habbe
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  7. Peter Langer
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  8. Detlef K. Bartsch
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Correspondence to Peter Langer.

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Schneider, R., Slater, E.P., Sina, M. et al. German national case collection for familial pancreatic cancer (FaPaCa): ten years experience. Familial Cancer 10, 323–330 (2011). https://doi.org/10.1007/s10689-010-9414-x

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