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SFI1 and Breast Cancer

The body of evidence linking SFI1 to breast cancer is currently limited. In multi‐gene analyses of familial cancer cases, SFI1 (HGNC:29064) was identified among several candidate genes in affected individuals (PMID:27900359), but no SFI1‐specific pathogenic variants meeting HGVS criteria have been reported. While the affected individuals demonstrated homozygosity consistent with an autosomal recessive model, there is a lack of robust segregation data or independent replication across unrelated probands, which restricts the genetic evidence to a preliminary level. In addition, functional assessments in model systems have explored SFI1’s role in spindle pole body separation and centrin binding (PMID:16972090; PMID:26779587), yet such studies have not yet established a direct link to the breast cancer phenotype.

In summary, although SFI1 is recurrently observed as a candidate in genomic screens of familial breast cancer, both the genetic and functional data remain insufficient to confirm a definitive association. Additional studies including the identification of clearly pathogenic SFI1 variants, detailed segregation analyses, and phenotype‐recapitulating functional experiments are required before SFI1 can be fully integrated into clinical diagnostic pipelines. Key take‑home: Despite preliminary indications, the current evidence for an SFI1–breast cancer association is limited and should be interpreted with caution in diagnostic and commercial genetic testing settings.

References

  • Cold Spring Harbor Molecular Case Studies • 2016 • Homozygous inactivation of CHEK2 is linked to a familial case of multiple primary lung cancer with accompanying cancers in other organs PMID:27900359
  • Current Genetics • 2006 • Deletion of RNQ1 gene reveals novel functional relationship between divergently transcribed Bik1p/CLIP-170 and Sfi1p in spindle pole body separation PMID:16972090
  • Biochimica et Biophysica Acta • 2016 • New insights into the interaction of centrin with Sfi1 PMID:26779587

Evidence Based Scoring (AI generated)

Gene–Disease Association

Limited

SFI1 is recurrently identified in multi-patient familial cancer studies (PMID:27900359), but the absence of clearly pathogenic variants and robust segregation data in independent probands limits the strength of association.

Genetic Evidence

Limited

No SFI1-specific variants meeting the rigorous HGVS criteria have been reported despite its inclusion in candidate gene panels, resulting in limited genetic evidence.

Functional Evidence

Limited

While experimental studies have demonstrated SFI1’s involvement in spindle pole body separation and centrin binding (PMID:16972090; PMID:26779587), these findings have not been directly correlated with breast cancer phenotypes.