ArticleClinical and translational gastroenterology2025
Risk of Pancreatic Cancer in Cystic Fibrosis and Cystic Fibrosis Transmembrane Conductance Regulator Germline Variants: A Retrospective Cohort Study.
Article in Clinical and translational gastroenterology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
introductionScreening guidelines for pancreatic cancer (PC) based on genetic risk do not include patients with cystic fibrosis (CF) or cystic fibrosis transmembrane conductance regulator (CFTR) gene variants. The objective of this study was to determine risk of PC in patients with CF or CFTR pathogenic/likely pathogenic gene variants.
methodsWe conducted a retrospective cohort study of CF/CFTR pathogenic/likely pathogenic variants patients in an integrated healthcare system from 2008 to 2023. Index date was the initial encounter within the health system, with censoring at loss of membership, death, or study completion. PC incidence rate was based on person-time at risk. Age-adjusted and sex-adjusted standardized incidence rate ratio (SIR) for PC was calculated for CF/CFTR compared with the non-CFTR reference population. We further stratified PC risk by age and family history of PC.
resultsA total of 12,682 patients with CF/CFTR were included with a median follow-up of 8.3 years (interquartile range 4.3-13.1). The cohort was 88% female, had median age at index of 25.8 (interquartile range 19.1-31.1) years, and was majority White and Hispanic. Eight total PC events occurred in the CF/CFTR group (incidence rate 7.3 per 100,000 person-years). The adjusted SIR for PC was 2.3 (95% confidence interval 1.2-4.7) for CF/CFTR variant patients. There was effect modification by age, with SIR (age ≥50 years) of 2.87 (95% confidence interval 1.37-6.01). Among CF/CFTR patients with family history of PC, 1 PC case was observed with SIR (age ≥50 years) of 13. DISCUSSION: Patients with CF or CFTR gene variants had an almost 3-fold higher adjusted risk of PC than the general population after the age of 50 years. The risk may be further increased with a family history of PC.
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