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Two independent multi‐patient studies have identified BPIFA1 as a potential biomarker for lung cancer. In the 2007 study, a bioinformatics and clinical validation approach showed that BPIFA1, among five other genes, was differentially expressed in non‑small‑cell lung cancer tissues compared to benign controls (PMID:17671213). A subsequent study in 2024 reinforced these findings by demonstrating that BPIFA1 expression is downregulated in lung cancer tissues of smokers, correlating with poorer prognosis (PMID:38505085). The absence of classic segregation data or reported coding variants limits the traditional genetic evidence normally associated with Mendelian disorders.
Functional evidence supports a biological role for BPIFA1 in the respiratory tract. An in vitro study demonstrated that multiple isoforms of BPIFA1 (also referred to as PLUNC) bind lipopolysaccharide, implicating the protein in innate immune responses that may influence lung cancer pathogenesis (PMID:15158712). Although genetic evidence is restricted to expression data rather than pathogenic variants, the convergence of observational and functional studies provides a framework for its potential clinical utility as a diagnostic and prognostic marker. Key take‑home sentence: BPIFA1 emerges as a promising lung cancer biomarker warranting further translational investigations to substantiate its diagnostic application.
Gene–Disease AssociationLimitedTwo independent multi‐patient studies reported differential expression of BPIFA1 in lung cancer tissues in both diagnostic and prognostic contexts without supportive segregation or variant data (PMID:17671213, PMID:38505085). Genetic EvidenceLimitedGenetic data are restricted to expression profiling with no specific pathogenic coding variants identified. Functional EvidenceModerateIn vitro assays demonstrating that BPIFA1 isoforms bind lipopolysaccharide support its role in airway innate immunity, providing functional context for its involvement in lung pathology (PMID:15158712). |