Germline pathogenic variants in patients with high-grade gastroenteropancreatic neuroendocrine neoplasms

#3712

Introduction: High-grade gastroenteropancreatic (HG-GEP) neuroendocrine neoplasms (NEN) are aggressive cancers with a dismal prognosis. The molecular etiology remains poorly characterized and prevalence of pathogenic germline variants unknown.

Aim(s): Prevalence of germline pathogenic mutations in HG GEP-NEN.

Materials and methods: We assessed targeted sequencing data from 360 cancer related genes in normal tissue, from 240 patients with HG-GEP-NEN (198 NEC and 42 NET G3) and compared the frequency of pathogenic germline variants to previously reported data from 33 different cancer types. The potential impact of such variants on survival in HG-GEP-NEN was assessed.

Conference:

Presenting Author: Sorbye H

Authors: Sorbye H, Venizelos A, Perren A, Couvelard A, Hjortland G,

Keywords: germline, mutations, gastropancreatic, neuroendocrine carcinoma, NET G3, high-grade,