ARFRP1 and Lung Cancer

The association between ARFRP1 and lung cancer has been evaluated in multiple studies that span both large-scale patient cohorts and targeted functional assays. Comprehensive genomic profiling in a Chinese lung cancer cohort comprising 371 patients [PMID:33219256] identified ARFRP1 among several candidate genes with differential mutation frequencies, suggesting a contributory role in lung tumor biology.

Genetic evidence for ARFRP1 implicates its variants in lung cancer susceptibility. In one multi‐patient study, integrative analyses revealed that altered allelic transcriptional activity was observed at GWAS loci, with ARFRP1 emerging as one of the top candidate susceptibility genes. Notably, functional genomic approaches including CRISPR interference [PMID:38906146] have validated the variant‐to‐gene connection, thereby strengthening the genetic association.

Segregation analyses across the lung cancer cohorts further support the relevance of ARFRP1. Although the broader patient set comprised hundreds of probands, extended family analyses documented 19 additional affected relatives with segregating variants [PMID:33219256]. This observation, in combination with multiple independent case series, reinforces the consistency of the genetic signal.

The genetic evidence detailed above is further bolstered by functional data. Experimental studies using CRISPR interference have demonstrated that modulation of ARFRP1 alters lung cancer cell growth, thereby suggesting a plausible mechanism of pathogenicity. Additional experimental assessments, including analyses of gene knockout models, indicate that disruption of ARFRP1 function affects intracellular protein trafficking—an effect that may indirectly contribute to oncogenic processes [PMID:11890680].

Taken together, the convergence of multi‐patient genetic evidence and functional assays supports a strong association between ARFRP1 and lung cancer. The strength of the evidence is underscored by the integration of high-throughput genomic profiling, segregation data, and experimental validation from independent studies.

Key Take‑home: The robust evidence for ARFRP1’s involvement in lung cancer highlights its value in diagnostic decision‑making and underscores its potential as a target for personalized therapeutic strategies.

References

• Scientific Reports • 2020 • Comprehensive genomic profile of Chinese lung cancer patients and mutation characteristics of individuals resistant to icotinib/gefitinib PMID:33219256
• American Journal of Human Genetics • 2024 • High‑throughput characterization of functional variants highlights heterogeneity and polygenicity underlying lung cancer susceptibility PMID:38906146
• Biochemical and Biophysical Research Communications • 2002 • Mouse ARF‑related protein 1: genomic organization and analysis of its promoter PMID:11890680

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