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A single study (PMID:26872740) using exome sequencing in a family with gastric and rectal cancer identified 12 novel non‑synonymous variants shared among 5 affected members. Although SUCNR1 (HGNC:4542) was one of the 12 candidate genes implicated, no SUCNR1‑specific variant was reported in the study. The family exhibited a dominant pattern of inheritance, yet the collective genetic evidence remains limited because the contribution of each individual variant—including that in SUCNR1—to colorectal cancer (MONDO_0005575) risk is uncertain in the context of complex inheritance.
There is an absence of SUCNR1‑specific functional and experimental data to support or refute its potential pathogenic role in colorectal cancer. Given the complexity of the observed inheritance and the lack of replication studies or supporting functional assays, the current evidence is insufficient to conclusively assign a strong clinical validity to the SUCNR1 and colorectal cancer association. Key take‑home: while the initial genetic observations raise a potential link between SUCNR1 and colorectal cancer risk, further research is needed to establish its clinical utility in diagnostic settings and commercial applications.
Gene–Disease AssociationLimitedBased on a single family study with 5 affected members sharing 12 novel variants (PMID:26872740), the contribution of SUCNR1 remains unclear. Genetic EvidenceLimitedAlthough segregation among 5 affected individuals was observed, no SUCNR1‑specific variant was identified, limiting the strength of the genetic evidence. Functional EvidenceLimitedNo experimental studies or functional assays have been provided to evaluate the impact of SUCNR1 variants on colorectal cancer pathogenesis. |