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SIGLEC1 and Pancreatic Ductal Adenocarcinoma

This summary describes the association between SIGLEC1 and pancreatic ductal adenocarcinoma based on genomic and functional assessments. In a comprehensive exome sequencing study of a patient with metastatic pancreatic ductal adenocarcinoma (PMID:22797009), SIGLEC1 was identified among 12 genes with elevated allele frequencies. Network analysis demonstrated that SIGLEC1 clusters with established PDAC drivers such as KRAS and TP53, achieving a highly significant network p value of 1 × 10^-22 (PMID:22797009). Although derived from a singular case report, its inclusion alongside other known cancer genes provides preliminary support for its role in tumor metastasis.

Functional assessment studies further indicate that abnormal expression of SIGLEC1 in PDAC tissues correlates with enhanced migration, proliferation, and colony formation in pancreatic cancer cell lines (PMID:22797009). While traditional segregation analysis is not applicable for somatic alterations, the convergence of genomic data and functional assays reinforces the potential pathogenicity of SIGLEC1 in the context of pancreatic ductal adenocarcinoma. Overall, despite the limited genetic evidence from a single patient, the experimental data substantiate SIGLEC1 as a candidate gene, meriting additional investigation to fully delineate its clinical utility.

Key Take‑home: The observed alterations in SIGLEC1, supported by both genomic and functional evidence, suggest its potential role in PDAC metastasis, offering insights for diagnostic and therapeutic strategies.

References

  • Cancer biology & therapy • 2012 • Exome sequencing and digital PCR analyses reveal novel mutated genes related to the metastasis of pancreatic ductal adenocarcinoma PMID:22797009

Evidence Based Scoring (AI generated)

Gene–Disease Association

Limited

Association based on a single case (PMID:22797009) with network analysis linking SIGLEC1 to key PDAC drivers.

Genetic Evidence

Limited

SIGLEC1 was identified via exome sequencing and showed elevated allele frequency, integrating into a significant gene network (p = 1 × 10^-22) (PMID:22797009).

Functional Evidence

Moderate

Functional assays demonstrated that abnormal SIGLEC1 expression enhances migration, proliferation, and colony formation in pancreatic cancer cell lines (PMID:22797009).