ArticlePediatric pulmonology2025
Enrichment of Germline Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Pathogenic Variants in Patients With Solid Tumors: Evidence for Increased Cancer Risk.
Article in Pediatric pulmonology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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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.
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Who cites it
3 citing papers in PubMed.
- Malaria-Related Host Genetic Variation in an Endemic Population of Southern Senegal.International journal of molecular sciences · 2026Article
- CFTR-driven immune microenvironment reprogramming synergizes with anti-PD-L1 antibody in hepatocellular carcinoma.Cell death & disease · 2026Article
- Pathogenic CFTR variants as cancer risk modifiers: Findings from the all of us cohort.Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society · 2026Article
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Authors and funding
10 authors.
Funding
Abstract
introductionWide-spread use of cystic fibrosis (CF) transmembrane conductance regulator (CFTR) modulators has resulted in a dramatic increase in life expectancy of people with CF. Historically, CFTR carrier status has been thought to be benign; however, data are emerging that dysfunction of CFTR may play a role in cancer risk. The aims of this study were to (1) determine the frequency of germline pathogenic CFTR gene variations in a cohort of patients with cancer, and (2) investigate associations between germline pathogenic CFTR variants and established germline somatic oncogenic driver mutations.
methodsThe Indiana University Adult Precision Genomics (APG) clinical database was queried for all subjects having a germline CFTR pathogenic variant (PV). The CFTR PVs observed in our cohort were compared to published population minor allele frequencies from the Allele Frequency Aggregator (ALFA) Project then scaled to reflect our APG population.
resultsData were available for 2141 patients. Based on known minor allele frequencies and the racial distribution of our cohort, we expected 33 subjects (1.5%) to have CFTR PVs. However, CFTR PVs were present in 71 subjects (3.3%), 2.1-fold higher than expected (p < 0.001). The observed enrichment of CFTR PVs varied by cancer type, with CFTR PVs being overrepresented in patients with skin and gastrointestinal cancers.
conclusionsThe overall prevalence of CFTR PVs in people with solid tumors was higher than expected. These results suggest that carriers of CFTR PV may benefit from enhanced cancer screening.
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