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Analysis of polymorphisms in EGF, EGFR and HER2 genes in pancreatic neuroendocrine tumors (PNETs)
Sonja Marinović1, Maja Cigrovski Berković2, Vanja Zjačić-Rotkvić3
1Division of Molecular Medicine, Zagreb, Croatia.
Objectives:
Pancreatic neuroendocrine tumors (NETs) are rare and account for about 7% of all cancers occurring in the pancreas. The epidermal growth factor family of receptors and their ligands play an important role in the growth and progression of tumors but their role in PNET development remains unknown. We hypothesized that functional single nucleotide polymorphisms (SNPs) in the EGF, EGFR, and HER2 genes might affect individual susceptibility to PNETs development and invasion like it was shown for various other tumors.
Methods:
We genotyped 68 patients with unresectable PNETs and 300 controls to evaluate the association between EGF, EGFR, and HER2 polymorphisms and susceptibility to PNETs and presence of metastases.
Results:
Genotype analysis of three SNPs EGF +61A/G (rs4444903), EGFR +1562 G/A (rs11543848), and HER2 +1963 A/G (rs1136201) showed that carriers of EGFR +1562 AG genotype and AA/AG EGF +61/HER2 +1963 genotype combination are at risk of developing PNET. Furthermore, EGFR +1562 AA genotype could be associated with the susceptibility to insulinoma development.
Conclusions:
Our results suggest involvement of EGFR signaling pathway in etiology of PNET development.
Insights
Functional genetic variations in EGF, EGFR, and HER2 may influence pancreatic neuroendocrine tumor (PNET) risk. Specific EGFR genotypes are linked to increased PNET susceptibility and insulinoma development.
Area of Science:
- Oncology
- Genetics
Background:
- Pancreatic neuroendocrine tumors (PNETs) are rare pancreatic cancers.
- The role of the epidermal growth factor (EGF) family in PNET development is not well understood.
- Functional single nucleotide polymorphisms (SNPs) in EGF, EGFR, and HER2 genes are implicated in other tumor types.
Purpose of the Study:
- To investigate the association between EGF, EGFR, and HER2 gene polymorphisms and susceptibility to PNETs.
- To evaluate the link between these polymorphisms and the presence of metastases in PNET patients.
Main Methods:
- Genotyping of three specific SNPs: EGF +61A/G (rs4444903), EGFR +1562 G/A (rs11543848), and HER2 +1963 A/G (rs1136201).
- Analysis included 68 patients with unresectable PNETs and 300 controls.
Main Results:
- Carriers of the EGFR +1562 AG genotype and a combined EGF +61/HER2 +1963 genotype (AA/AG) showed increased risk for PNET development.
- The EGFR +1562 AA genotype may be associated with susceptibility to insulinoma, a type of PNET.
Conclusions:
- The findings suggest the involvement of the EGFR signaling pathway in the etiology of PNET development.
- Genetic variations in EGF, EGFR, and HER2 warrant further investigation in PNET pathogenesis.
