German national case collection for familial pancreatic cancer (FaPaCa): ten years experience
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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Established screening programmes for pancreatic ductal adenocarcinoma include the pan-European EUROPAC registry, the North American National Familial Pancreatic Tumor Registry, and the German National Case Collection for familial pancreatic cancer.
“Established screening programmes exist, including the pan-European EUROPAC registry,36 North American National Familial Pancreatic Tumor Registry,57 and the German National Case Collection for familial pancreatic cancer.58”
From Early detection of pancreatic cancer (2020) · cites this paper as [58]
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- Authors
- Schneider, R., Slater, E. P., Sina, M., Habbe, N., Fendrich, V., Matthäi, E., Langer, P., & Bartsch, D. K.
- Affiliations
- Philipps University of Marburg (DE)
- Corresponding author
- Langer, Peter
- ORCID
- Bartsch, Detlef K.
- Venue
- Familial Cancer
- Published
- 2011-01-05
- Volume
- 10
- Issue
- 2
- Pages
- 323-330
- ISSN
- 1389-9600 (ISSN-L)
- 1573-7292
- OpenAlex
- W2054013278
- Cited by
- 143
- References
- 4
- Citations by year
- 2026: 5 · 2025: 1 · 2024: 3 · 2023: 7 · 2022: 9 · 2021: 10 · 2020: 11 · 2019: 13 · 2018: 15 · 2017: 11 · 2016: 11 · 2015: 12 · 2014: 13 · 2013: 8 · 2012: 12
- FWCI
- 5.52
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Familial Cancer (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Deutsche Krebshilfe
- Topics
- Health Sciences › Medicine › Oncology › Pancreatic and Hepatic Oncology Research
- Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
- Keywords
- familial pancreatic cancer, hereditary cancer, germline mutations, BRCA2, PALB2, autosomal dominant inheritance, age of onset, pancreatic cancer screening, pancreatic intraepithelial neoplasia, precancerous lesions, genetic counseling, breast cancer, colon cancer, lung cancer
- MeSH terms
- Fanconi Anemia Complementation Group N Protein, Adult, Aged, Aged, 80 and over, Female, Germany, Humans, Male, Middle Aged, Mutation, Nuclear Proteins, Pancreatic Neoplasms, Genes, BRCA2, Tumor Suppressor Proteins
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