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The association between BPIFB1 and lung adenocarcinoma has emerged from a genomic investigation of young never‑smoker patients with non‑small‑cell lung cancer. This study utilized whole genome sequencing to evaluate 36 probands (PMID:29667179) and thereby revealed a spectrum of genetic alterations contributing to disease heterogeneity.
In particular, a germline variant in BPIFB1, annotated as rs6141383 resulting in a protein change from Valine to Methionine (p.Val284Met), was found to be significantly enriched in lung adenocarcinoma patients when compared to non‑cancer controls (PMID:29667179). Although this variant is reported without a corresponding coding (c.) description, its statistical association in the cohort suggests a potential role in predisposition to lung adenocarcinoma.
Genetic evidence supporting the BPIFB1 association is derived from this single multi‑patient study. Despite the modest cohort size (36 probands) and the absence of familial segregation data, the significant enrichment of the BPIFB1 alteration provides preliminary support for a gene‑disease link, albeit at a limited evidence level.
While the genetic findings hint at a pathogenic role, functional experiments directly assessing BPIFB1 in lung adenocarcinoma are currently lacking. No in vitro or in vivo assays were reported to evaluate the impact of the p.Val284Met alteration on protein function or relevant cellular pathways in the lung tissue.
In summary, although a statistically significant association between a BPIFB1 germline variant and lung adenocarcinoma in young never‑smokers has been demonstrated, the overall evidence is limited by a single study and the absence of corroborative functional data. Further investigations, including segregation studies and direct experimental assessments, are needed to fully validate the clinical utility of BPIFB1 in lung adenocarcinoma risk stratification.
Key take‑home: BPIFB1 genetic screening may eventually complement lung adenocarcinoma diagnostic panels in young never‑smokers, pending further validation.
Gene–Disease AssociationLimitedA single study of 36 probands (PMID:29667179) identified a germline BPIFB1 mutation (rs6141383, p.Val284Met) with significant enrichment, but the lack of segregation data and independent replication limits the strength of this association. Genetic EvidenceLimitedGenetic evidence is based on the identification of one germline variant in a modest cohort with statistically significant enrichment over controls, though comprehensive family segregation analysis is absent. Functional EvidenceLimitedNo direct functional assays have been performed to confirm the pathogenicity of the BPIFB1 variant in lung adenocarcinoma, limiting the experimental support. |