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The gene RASSF9 (HGNC:15739) has been evaluated for its potential role in familial colorectal cancer type X (MONDO_0018604). In a genome‑wide linkage study of 22 families with FCCTX, the authors screened candidate genes in a key chromosomal locus and specifically ruled out the implication of RASSF9 in the disease (PMID:25381643). In contrast, a subsequent systematic review that examined multiple candidate genes for FCCTX reported RASSF9 among a panel of genes with potential correlation to the condition (PMID:29096939), thereby highlighting conflicting genetic evidence.
Overall, the genetic evidence for the involvement of RASSF9 in FCCTX is limited and disputed. There is a lack of supportive segregation data, no reported pathogenic variant for RASSF9 (e.g., no reported variant such as a coding change in the HGVS format), and no functional studies have conclusively demonstrated a pathogenic mechanism linking RASSF9 to colorectal tumorigenesis. Key take‑home: Clinicians should interpret the current evidence regarding RASSF9’s contribution to familial colorectal cancer type X with caution, acknowledging that the association remains unresolved for diagnostic decision‑making and future clinical application.
Gene–Disease AssociationDisputedA genome‑wide linkage study in 22 families with FCCTX (27 probands PMID:25381643) ruled out involvement of RASSF9, yet a systematic review subsequently cited it as a candidate gene (PMID:29096939), resulting in conflicting evidence. Genetic EvidenceDisputedNo robust segregation data or reported pathogenic variants for RASSF9 have been published in FCCTX cohorts. Functional EvidenceLimitedThere are no experimental or functional assays that have confirmed a role for RASSF9 in the pathogenesis of familial colorectal cancer type X. |