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The association between TAS2R7 (HGNC:14913) and colorectal cancer (MONDO_0005575) is based on a single-family exome sequencing study. In that study, whole exome sequencing of a family with gastric and rectal cancer identified 12 novel nonsynonymous variants shared among five affected individuals (PMID:26872740). TAS2R7 was one of the candidate genes flagged in this analysis, which suggested a dominant mode of inheritance. However, minimal segregation data, with only a few additional affected relatives showing the candidate variant, and the absence of independent replication studies, limit the strength of the association.
Functional assessment studies of TAS2R family members under zinc-deficient conditions have also been performed. Although the promoter activities of TAS2R7, TAS2R8, and TAS2R42 were evaluated, only TAS2R8 showed significant zinc-dependent regulation, while TAS2R7 did not exhibit a detectable difference (PMID:33071257). This functional evidence does not robustly support a pathogenic mechanism for TAS2R7 in colorectal cancer. In conclusion, the current genetic and functional data classify the TAS2R7–colorectal cancer association as limited. Key take‑home sentence: Despite preliminary findings suggesting a candidate role for TAS2R7 in colorectal cancer, further studies are required to validate its utility in diagnostic and commercial applications.
Gene–Disease AssociationLimitedAssociation based on a single family with five affected members (PMID:26872740); candidate gene status of TAS2R7 remains unvalidated in independent cohorts. Genetic EvidenceLimitedOnly one family study reported a novel nonsynonymous variant among a panel of 12 genes with insufficient segregation data and no replication studies (PMID:26872740). Functional EvidenceLimitedPromoter assays showed that, unlike TAS2R8, TAS2R7 did not display significant zinc-dependent regulation, limiting its supportive value for disease causality (PMID:33071257). |