Germline predisposition to neuroendocrine tumours of the pancreas (pNEN) based on mutations in DNA repair genes – BRCA1, BRCA2, PALB2, CHEK2, MLH1, MSH2, MSH6, PMS2, EPCAM, APC, MUTYH, STK11

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Introduction: Neuroendocrine tumours of the pancreas (pNEN) rank as the second most common epithelial neoplasms after pancreatic adenocarcinoma, with increasing prevalence and a mortality rate of 60%. Identifying germline mutations in DNA repair genes such as CHEK2, BRCA1/2, and MUTYH within pNEN cases may pave the way for personalised diagnostics and therapies.

Aim(s): This study aimed to investigate whether germline mutations in genes BRCA1, BRCA2, PALB2, CHEK2, MLH1, MSH2, MSH6, PMS2, EPCAM, APC, MUTYH, and STK11 are present in patients with seemingly sporadic pNEN.

Materials and methods: The study included 160 patients with pNEN considered sporadic based on clinical presentation and the exclusion of MEN1 and VHL syndromes via molecular testing. 63 underwent targeted next-generation sequencing (NGS) analysis of selected genes.

Conference:

Presenting Author:

Authors: Jurecka Lubieniecka B, Ros-Mazurczyuk M, Oczko-Wojciechowska M, Cortez A, Handkiewicz-Junak D,

Keywords: pNEN, DNA repair genes,