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In a series of linkage studies focusing on familial serrated neoplasia (Jass syndrome), a condition that overlaps with the clinical spectrum of Lynch syndrome, FZD7 (HGNC:4045) was evaluated alongside other candidate genes. The study, which analyzed a large family using genome-wide linkage methods, revealed a candidate region at 2q32.2–q33.3 with a heterogeneity logarithm of the odds (HLOD) score of 2.09 (PMID:21165777). Despite the promising statistical signal, sequencing of the five primary candidate genes, including FZD7, failed to yield any segregating variants. This lack of positive mutation findings means that the genetic evidence specifically linking FZD7 to Lynch syndrome remains very limited. Furthermore, no additional case reports or multi‐patient studies have since provided confirmatory genetic data for FZD7 in Lynch syndrome. Thus, both genetic and functional evaluations offer only limited support for a direct clinical association between FZD7 and Lynch syndrome.
Key take‑home: While FZD7 has important roles in Wnt signaling in several cancers, its diagnostic utility for Lynch syndrome is not yet substantiated by robust genetic or functional evidence.
Gene–Disease AssociationLimitedCandidate gene sequencing in familial serrated neoplasia did not identify segregating FZD7 variants in a large family ([PMID:21165777]). Genetic EvidenceLimitedNo pathogenic variants in FZD7 have been reported in Lynch syndrome cases, and segregation data are absent ([PMID:21165777]). Functional EvidenceLimitedAlthough FZD7 is implicated in the canonical Wnt signaling pathway in other cancers, no functional studies have directly assessed its role in the context of Lynch syndrome ([PMID:21165777]). |