Prevalence of germline mutations in pancreatic neuroendocrine tumors

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Introduction: Approximately 10% of pancreatic neuroendocrine tumors (PanNETs) develop due to inherited syndromes. However, generally genetic counseling and testing is not performed routinely and little accumulated on the prevalence of PanNETs associated with the presence of germline mutations.

Aim(s): To study the prevalence of germline mutations in patients with PanNETs.

Materials and methods: Two groups of patients were formed. Group A – patients with asymptomatic PanNETs T1 under observation without surgical or systemic treatment (n=50). Group B – patients with locally advanced or metastatic PanNETs (n=16). The patients underwent genetic testing using the new generation whole-genome sequencing method (NGS EVOGEN-GENOME panel).

Conference:

Presenting Author:

Authors: Salimgereeva D, Feidorov I, Konyakhina A,

Keywords: PanNET, GENOME, NGS, CHEK2, MEN1,