DCC – Esophageal Cancer Susceptibility

Deleted in Colorectal Carcinoma (DCC) encodes a transmembrane receptor implicated in axon guidance and tumor suppression. A case–control study in a high-risk Kashmiri population genotyped two DCC SNPs and identified DCC rs714 (A>G) as significantly associated with esophageal cancer (EC) risk. Specifically, 135 EC patients versus 195 matched controls showed an elevated risk for the G allele (OR = 1.92; P = 0.03) ([PMID:23765761]). No association was observed for DCC rs2229080 (C>G).

A subsequent meta-analysis within the same report confirmed the independent and overall association of DCC rs714 with cancer susceptibility (P = 0.000) ([PMID:23765761]). However, no familial segregation data or rare coding variants have been reported in EC cohorts, and functional assays directly linking rs714 to DCC expression or signaling in esophageal epithelium are lacking. Thus, evidence for a causal role of DCC variation in EC remains limited.

Key Take-home: DCC rs714 (A>G) represents a low-penetrance risk allele for esophageal cancer in a specific population; further replication and mechanistic studies are needed to establish clinical utility in risk stratification.

References

• Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine • 2013 • Role of genetic variants of deleted in colorectal carcinoma (DCC) polymorphisms and esophageal and gastric cancers risk in Kashmir Valley and meta-analysis. PMID:23765761

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