Variant Synonymizer: Platform to identify mutations defined in different ways is available now!
Over 2,000 gene–disease validation summaries are now available—no login required!
The association between SFT2D1 and exocrine pancreatic carcinoma has emerged from two large-scale transcriptome‐wide association studies. These studies leveraged genetically predicted expression data from normal pancreas tissues to uncover candidate susceptibility genes, including SFT2D1, in cohorts comprising over 8,275 cases (PMID:32907841).
In the first study, significant associations were identified through analysis of expression models built from data on 305 subjects, and applied to a case‑control cohort of 8,275 pancreatic cancer cases alongside 6,723 controls (PMID:32907841). SFT2D1 was one of 13 genes showing a robust association with pancreatic cancer risk at a stringent false discovery rate.
A subsequent splicing transcriptome‑wide association study further supported the role of SFT2D1 by demonstrating that alternative splicing events in this gene are statistically linked with pancreatic cancer risk in a similarly powered cohort (PMID:37769343). The replication of association signals across studies strengthens the genetic evidence, despite the absence of explicit familial segregation or detailed individual variant reports.
Genetic evidence is considered moderate, as robust statistical associations were observed in large cohorts; however, the nature of the study design (case‑control transcriptome analyses) precludes traditional segregation data. No specific coding variant meeting the HGVS criteria was reported for SFT2D1 in these studies.
Functional evidence remains limited because no direct in vitro or in vivo assays have been published to interrogate the mechanistic impact of altered SFT2D1 expression or splicing on pancreatic cell biology. Nonetheless, the replicated association of splicing events suggests a regulatory role that warrants future experimental validation to elucidate the underlying pathogenic mechanism.
In conclusion, current evidence positions SFT2D1 as a moderately supported candidate susceptibility gene for exocrine pancreatic carcinoma. Although additional functional studies are needed, the statistically significant associations observed in large, independent cohorts provide valuable insights that can inform diagnostic decision‑making, commercial risk stratification, and future research into the molecular etiology of pancreatic cancer.
Gene–Disease AssociationModerateAssociation supported by statistically significant signals in two large cohorts (>8,275 cases [PMID:32907841] and replicated by splicing analysis [PMID:37769343]), despite the lack of familial segregation data. Genetic EvidenceModerateRobust transcriptome-wide associations identified SFT2D1 as a candidate susceptibility gene with consistent statistical signals across studies, meeting ClinGen criteria based on cohort size and replication. Functional EvidenceLimitedNo direct functional assays have been reported; however, the association of splicing events with disease risk implies potential regulatory involvement needing further experimental validation. |