Genetic and familial susceptibility accounts for 10% of pancreatic ductal adenocarcinoma (PDAC) cases and represents a small but relevant subgroup in which early detection may meaningfully affect outcomes. Pathogenic germline variants (PGVs) in susceptibility genes, such as BRCA2/ATM/CDKN2A/STK11/PALB2/TP53, as well as mismatch repair genes, confer a substantially higher lifetime risk, while families fulfilling the criteria for familial pancreatic cancer (FPC) exhibit disease clustering in the absence of an identifiable PGV. Over the past two decades, surveillance strategies for high-risk individuals (HRIs) have evolved from exploratory registries to structured clinical programs, generating expanding evidence with tangible clinical implications. Data from the international CAPS (Cancer of the Pancreas Screening) consortium, the Dutch nationwide surveillance program, and the IRFARPC (Italian Registry of Families at Risk for Pancreatic Cancer) consistently demonstrate a stage shift toward earlier, resectable disease and improved survival among cancers detected under surveillance. However, uncertainties remain regarding the magnitude of benefit, eligibility criteria, surveillance start age, cost-effectiveness, and the risk of overdiagnosis. This review critically appraises current evidence, focusing on the Italian and European experience, evaluates the pros and cons of HRIs surveillance, and proposes updated criteria and considerations for a structured, registry-based national program aligned with new evidence.
山东省济南市章丘区文博路2号
齐鲁师范学院 genelibs生信实验室
山东省济南市高新区舜华路750号
大学科技园北区F座4单元2楼
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