ArticleUnited European gastroenterology journal2026
Discovering Hereditary Risk Through Surveillance: A Prospective Genetic Analysis of Individuals With Familial Pancreatic Cancer.
Article in United European gastroenterology journal, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. It is linked to trial NCT05724992 (Standardised Genetic Profiling of Subjects Belonging to the Italian Multicenter Registry of Prospective Surveillance of Subjects at Genetic Risk of Pancreatic Cancer), which is not on this map. Cited by 4 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Standardised Genetic Profiling of Subjects Belonging to the Italian Multicenter Registry of Prospective Surveillance of Subjects at Genetic Risk of Pancreatic Cancer
Who cites it
4 citing papers in PubMed.
- Presumed Intraductal Papillary Mucinous Neoplasms in Individuals at High Risk for Pancreatic Cancer.JAMA network open · 2026Article
- Hereditary Pancreatic Cancer: Genetic Risk, Surveillance Strategies, and Therapeutic Implications.International journal of molecular sciences · 2026Review
- Article
- Discovering Hereditary Risk Through Surveillance: A Prospective Genetic Analysis of Individuals With Familial Pancreatic Cancer.United European gastroenterology journal · 2026Article
Corrections and comments
- Erratum issued
Authors and funding
34 authors.
Funding
Abstract
backgroundLittle is known about the genetic background of individuals with familial pancreatic cancer (PC). Integrating germline testing into surveillance may uncover previously unrecognized hereditary susceptibility and expand prevention strategies beyond BRCA testing alone. This study evaluated the genetic landscape of high-risk individuals due to familiality (HRI-FHs) enrolled in a national surveillance program.
methodsFive hundred HRI-FHs from seven centers underwent surveillance and germline testing with a 41-gene NGS panel. Pathogenic/likely pathogenic variants (PGVs) and variants of unknown significance (VUS) were identified and correlated with clinical and imaging findings.
resultsOverall, forty-four (8.8%) out of 500 HRI-FHs carried at least one PGV, including 3.4% in high-penetrance genes (ATM, BRCA1/2, PALB2, BRIP1). Notably, 8 out of 17 (47%) of ATM, BRCA1/2, PALB2 carriers would not have met the national testing criteria based solely on their family history. An additional 5.4% (27/500) carried PGVs in genes linked to other hereditary conditions (CFTR, MUTYH, CTRC, SPINK1, APC), and 39.6% harbored at least one VUS. PGV status, age, and female gender were independent predictors of radiological abnormalities. Two PCs were diagnosed, both in mutation-negative individuals. DISCUSSION: Integrating germline testing into surveillance redefines the management of familial PC. It uncovers hereditary susceptibility beyond classical criteria and supports cascade testing. PC also arises in mutation-negative HRI. #NCT05724992.
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