SFMBT1 – Colorectal Cancer

SFMBT1 has been identified as a candidate susceptibility gene for colorectal cancer based on multi‑omics analyses and functional studies. Several studies integrating genome‑wide association data with colon-specific expression profiles have nominated SFMBT1 among a panel of genes potentially influencing colorectal carcinogenesis ([PMID:25766683]).

In a multi‑omics study, transcriptome and DNA methylation data were analyzed across a large cohort, resulting in the identification of 116 putative target genes from 45 GWAS‑identified colorectal cancer variants. Among these, SFMBT1 emerged as a strong candidate with statistically significant evidence through a summary‑data‑based Mendelian randomization approach ([PMID:33481017]).

Functional assays further supported the genetic findings by demonstrating that manipulation of SFMBT1 expression in vitro disturbs key cellular processes. These studies reported that SFMBT1 disruption affects migration, invasion, and epithelial‑mesenchymal transition, all of which are critical pathways in colorectal cancer pathogenesis ([PMID:33481017]).

Although no specific patient‑level variant data have been reported for SFMBT1 in colorectal cancer, the convergence of eQTL analysis and in vitro functional experiments provides a coherent narrative for its role in disease risk. The absence of detailed familial segregation or individual proband data limits the strength of the clinical claim, but the integrated approach supports a moderate level of evidence.

Notably, while multi‑omics and functional studies support the SFMBT1 association with colorectal cancer, further studies are needed to elucidate precise molecular mechanisms and variant‑specific effects. There is no conflicting evidence at present; however, additional replication in independent cohorts will be essential to solidify its diagnostic application.

In conclusion, the combined genetic and functional evidence aligns to support a moderate association between SFMBT1 and colorectal cancer. This association, though requiring further corroboration, provides a promising avenue for improved diagnostic decision‑making and the development of gene‑based strategies in a commercial and clinical research setting.

References

• Human molecular genetics • 2021 • Multi‑omics analysis to identify susceptibility genes for colorectal cancer PMID:33481017
• BMC genomics • 2015 • Enrichment of inflammatory bowel disease and colorectal cancer risk variants in colon expression quantitative trait loci PMID:25766683

Evidence Based Scoring (AI generated)