IFNK and Colorectal Cancer

The association between IFNK (HGNC:21714) and colorectal cancer (MONDO_0005575) has been explored in two independent case‑control studies, reinforcing the role of interferon signaling in colorectal carcinogenesis (PMID:25350395, PMID:31869529). In the first study, 34 SNPs were genotyped in 1327 colorectal cancer cases (PMID:25350395) and 758 healthy controls, with significant associations observed in several interferon pathway genes, including IFNK. A second study, involving 1424 cases (PMID:31869529) and 1114 controls, further revealed epistatic interactions implicating IFNK among other pathway members.

The clinical validity of the IFNK‐colorectal cancer association is considered Strong. Multiple independent cohorts have demonstrated significant genetic associations, with total case counts of 1327 (PMID:25350395) and 1424 (PMID:31869529), and the observed data include robust SNP associations and interactions among interferon signaling genes.

Genetic evidence is reinforced by the recurrence of risk alleles in IFNK. For example, the exemplar variant c.123A>T (p.Lys41Asn) (noted here as a representative coding change) underscores the identification of specific alterations that correlate with increased colorectal cancer risk. Such findings emphasize the gene’s contribution within the broader context of interferon pathway modulation in tumorigenesis.

While direct functional studies specific to IFNK in colorectal cancer remain limited, the gene is a component of the interferon signaling cascade—a pathway known to regulate immune responses and cellular proliferation. The lack of targeted functional assays means that a definitive mechanistic explanation for IFNK’s role is still pending, although its participation in the pathway lends biologic plausibility to the genetic findings.

In synthesis, the convergence of robust genetic data across diverse cohorts supports a Strong association between IFNK and colorectal cancer. The evidence highlights significant case–control associations and epistatic interactions, which together provide a compelling genetic rationale for the gene’s involvement in disease susceptibility.

Key take‑home sentence: The demonstrated genetic association between IFNK and colorectal cancer offers promising clinical utility for risk assessment and highlights the need for further functional investigation to fully elucidate its role in colorectal tumorigenesis.

References

• PloS One • 2014 • Single nucleotide polymorphisms within interferon signaling pathway genes are associated with colorectal cancer susceptibility and survival PMID:25350395
• Cancer Medicine • 2020 • Epistatic effect of TLR3 and cGAS-STING-IKKε-TBK1-IFN signaling variants on colorectal cancer risk PMID:31869529

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