Abstract Library

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#4604 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

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.

Conference:

Presenting Author:

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

Keywords: pNEN, DNA repair genes,

#4388 Pancreatic neuroendocrine tumours (pNET) and MUTYH germline (GPV) and somatic (SPV) pathogenic variants: A multinational study

Introduction: GPV and SPV in MUTYH are rare in pNET patients (pts).

Conference:

Presenting Author: Riechelmann R

Authors: Riechelmann R, Torrezan G, Cingarlini S, Raj N, Bergsland E,

Keywords: pancreatic neuroendocrine tumour, MUTYH, germline, pathogenic variants, mutations,

#4073 Comparative targeted NGS analysis between solid and liquid biopsies in GEP-NET: A pilot study

Introduction: Gastroenteropancreatic neuroendocrine tumors (GEP-NETs) present a broad clinical variability. Genetic profile could be a striking resource to respond to prognostic and treatment purposes. Sequencing of circulating tumor DNA (ctDNA) from liquid biopsy (LB) has been proposed as a less invasive alternative to solid biopsy (SB).

Conference:

Presenting Author:

Authors: Gagliardi I, Borges de Souza P, Martiradonna M, Rossi L, Albertelli M,

Keywords: Genetic profile, Liquid biopsy, Solid biopsy, GEP-NET, ctDNA,

#3744 Germline whole-exome sequencing of patients with neuroendocrine neoplasms reveals pathogenic or likely pathogenic variants in a large subset of patients

Introduction: The germline predisposition to neuroendocrine neoplasms (NEN) is not-well understood beyond genetic syndromes associated with MEN1 loss.

Conference:

Presenting Author: Sukrithan V

Authors: Sukrithan V, Boateng I, Jain P, Liyanarachchi S, Buss J,

Keywords: whole exome sequencing, germline, population, mutyh, pkd1, atp4a, pah,