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The association between SFI1 and uterine corpus leiomyoma is currently supported by limited genetic evidence. In one multi‐patient study of familial cancer cases, SFI1 was identified among a panel of five candidate genes in regions of homozygosity in individuals presenting with multiple malignancies including uterine leiomyoma (PMID:27900359). However, no SFI1‐specific variants were singled out through segregation analyses, and the study primarily emphasized alterations in other genes.
The inheritance pattern implied by the study is consistent with autosomal recessive transmission, as affected patients exhibited large regions of homozygosity. Nonetheless, detailed segregation data for SFI1 are lacking, limiting the strength of the genetic evidence. No discrete SFI1 variant meeting stringent HGVS criteria has been reported in the context of uterine corpus leiomyoma.
Functional studies have provided some biological plausibility for SFI1’s role in cell cycle regulation. Specifically, yeast model experiments have demonstrated that Sfi1p is critical for spindle pole body separation and interacts with centrin through well‐defined motifs (PMID:16972090; PMID:26779587). These experiments, while not performed in a disease‐specific context, support a potential mechanistic link between impaired SFI1 function and cellular processes that could contribute to tumorigenesis.
In summary, while experimental data from model systems suggest that SFI1 disruption might impact key cellular functions, the genetic evidence linking SFI1 to uterine corpus leiomyoma remains limited. The candidate gene was flagged in a multi‐patient study, yet the absence of well‐characterized, SFI1‐specific variants and detailed segregation analyses precludes a definitive association.
Future studies focused on detailed variant discovery, segregation analyses, and functional validation in relevant human tissues are required to clarify the clinical relevance of SFI1 in uterine corpus leiomyoma. Nonetheless, the current data warrant cautious consideration of SFI1 as a potential contributor to the disease phenotype.
Key Take‑home Sentence: Although SFI1 has biological plausibility based on functional studies, the limited genetic evidence necessitates further validation before it can be reliably used in diagnostic or commercial settings.
Gene–Disease AssociationLimitedThe association is based on the identification of SFI1 in a multi‐patient study via homozygosity mapping (PMID:27900359), but lacks SFI1-specific segregation and variant-level evidence. Genetic EvidenceLimitedSFI1 was noted alongside four other candidate genes in familial cases; however, no discrete SFI1 variants meeting strict HGVS criteria have been reported in uterine corpus leiomyoma. Functional EvidenceModerateExperimental studies in yeast models demonstrate that Sfi1 plays a critical role in spindle pole body separation and centrin binding (PMID:16972090; PMID:26779587), providing biological plausibility despite the lack of direct disease-specific assays. |