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Familial pancreatic cancer--current knowledge.
Detlef K Bartsch1, Thomas M Gress, Peter Langer
1Department of Visceral, Thoracic and Vascular Surgery, Philipps-University Marburg, Baldingerstrasse, 35041 Marburg, Germany. bartsch@med.uni-marburg.de
Nature Reviews. Gastroenterology & Hepatology
|June 6, 2012
Summary
Familial pancreatic cancer (FPC) involves families with multiple affected relatives and often an autosomal dominant inheritance. Genetic screening and multidisciplinary approaches are recommended for early detection, though reliable biomarkers are still needed.
Area of Science:
- Oncology
- Genetics
- Gastroenterology
Background:
- Familial pancreatic cancer (FPC) is defined by multiple affected first-degree relatives with exocrine pancreatic cancer, excluding other hereditary cancer syndromes.
- FPC typically exhibits autosomal dominant inheritance with a heterogeneous clinical presentation.
- While the primary genetic defect remains elusive, mutations in BRCA2, PALB2, and ATM are implicated in some FPC cases.
Purpose of the Study:
- To review the clinical phenotype, histopathology, genetics, and management strategies for familial pancreatic cancer.
- To discuss current recommendations for genetic counseling and pancreatic cancer screening in high-risk families.
Main Methods:
- Review of existing literature on familial pancreatic cancer.
- Analysis of current screening modalities and genetic findings.
Main Results:
- Germline mutations in BRCA2, PALB2, and ATM are identified in a subset of FPC families.
- Screening programs utilizing endoscopic ultrasonography and MRI can detect precursor lesions.
- Consensus on screening initiation/cessation age and surgical timing remains lacking.
Conclusions:
- Expert consensus supports multidisciplinary screening for pancreatic cancer in high-risk individuals under research protocols.
- Development of reliable biomarkers and imaging for precursor lesions is crucial.
- Further research is needed to establish optimal screening protocols and treatment guidelines for FPC.
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