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Analysis of polymorphisms in EGF, EGFR and HER2 genes in pancreatic neuroendocrine tumors (PNETs)

Marinović, Sonja; Cigrovski Berković, Maja; Zjačić-Rotkvić, Vanja; Kapitanović, Sanja (2022) Analysis of polymorphisms in EGF, EGFR and HER2 genes in pancreatic neuroendocrine tumors (PNETs). Cancer Genetics, 266-67 . pp. 44-50. ISSN 2210-7762

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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.

Item Type: Article
Uncontrolled Keywords: pancreatic neuroendocrine tumors ; EGFEGFRHER2 metastasis
Subjects: NATURAL SCIENCES > Interdisciplinary Natural Sciences
BIOMEDICINE AND HEALTHCARE > Basic Medical Sciences > Human Genetics, Genomics and Proteomics
Divisions: Division of Molecular Medicine
Project titleProject leaderProject codeProject type
Neuroendokrini tumori probavnog sustava i gušteračeCigrovski Berković, Maja134-1342428-0491MZOS
Molekularna genetika i farmakogenetika gastrointestinalnih tumoraKapitanović, Sanja098-0982464-2508MZOS
Mikrosatelitna nestabilnost (MSI i EMAST) u molekularnom profiliranju sporadičnih karcinoma debelog crijevaKapitanović, SanjaIP-2016-06-1430HRZZ
Depositing User: Sonja Marinović
Date Deposited: 08 Dec 2022 11:13
DOI: 10.1016/j.cancergen.2022.06.005

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