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Recent omics analyses have nominated RNMT as a candidate gene in colorectal cancer, largely based on its dysregulated expression and copy number alterations observed in clinical samples (PMID:20706620). In a separate study focusing on frameshift mutations in colorectal cancers with high microsatellite instability (MSI-H), RNMT was found to harbor frameshift variants in 4 out of 79 cases (PMID:28803425).
The genetic evidence, although collected in a cohort setting without traditional familial segregation data, suggests that RNMT alterations might play a contributory role in tumorigenesis. The frameshift mutations, likely leading to loss‐of‐function, were detected at a modest frequency and support a possible tumor suppressor role in a subset of MSI-H colorectal tumors.
From a functional perspective, despite the absence of dedicated in vitro or in vivo assays specifically interrogating RNMT, the observation of recurrent truncating mutations implicates a potential pathogenic mechanism. This is consistent with the idea that loss of RNMT function may contribute to the molecular pathogenesis of colorectal cancer.
There is no reported clear inheritance pattern because these alterations are somatically acquired in tumors rather than inherited. Moreover, the data do not include detailed familial segregation, and the candidate status of RNMT is primarily based on population-level multi‐omics studies.
In summary, the association between RNMT and colorectal cancer is supported by limited genetic and functional evidence. While omics and mutational studies indicate that RNMT frameshift events occur in a subset of MSI-H tumors, further experimental validation is required to firmly establish its role as a driver in colorectal tumorigenesis.
Key Take‑home: RNMT alterations, particularly frameshift mutations, offer preliminary evidence for its involvement in colorectal cancer, warranting additional clinical and mechanistic studies.
Gene–Disease AssociationLimitedLimited case‑level data with frameshift variants detected in 4 of 79 MSI‑H colorectal cancer cases (PMID:28803425) and supportive omics data from larger cohorts (PMID:20706620). Genetic EvidenceLimitedFrameshift mutations in RNMT observed in a subset of MSI‑H cases (4/79) accompanied by copy number and expression alterations suggest a potential involvement in tumorigenesis, though the evidence remains preliminary (PMID:28803425, PMID:20706620). Functional EvidenceLimitedNo dedicated functional assays for RNMT have been reported; however, the presence of truncating mutations implies a loss‐of‐function mechanism that is consistent with a pathogenic role in colorectal cancer. |