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Updated: Jun 6, 2026
09:34
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Pathogenic germline variants identified in pNEN patients during genetic testing
Tara Arouchian1, Alexandra Gangi2, Ka Wing Fung1
1Samuel Oschin Comprehensive Cancer Center, Cedars Sinai Medical Center, Los Angeles, California, USA.
Endocrine Oncology (Bristol, England)
|June 5, 2026
Summary
Pathogenic germline variants (PGVs) are found in 14.7% of pancreatic neuroendocrine neoplasms (pNENs). MUTYH alterations were the most frequent PGV, suggesting germline testing
Area of Science:
- Oncology
- Genetics
- Gastroenterology
Background:
- Pancreatic neuroendocrine neoplasms (pNE Ns) often present with poor outcomes due to late-stage diagnosis.
- Genetic susceptibility genes are key targets for identifying high-risk individuals for pNEN.
- Understanding the incidence of pathogenic germline variants (PGVs) in pNEN is crucial for prevention strategies.
Purpose of the Study:
- To determine the incidence of PGVs in patients diagnosed with pNEN.
- To identify specific genes associated with PGVs in the pNEN cohort.
- To evaluate the potential role of germline testing in pNEN management.
Main Methods:
- Retrospective analysis of 129 pNEN patients who underwent germline testing.
- Data collected between September 5, 2019, and February 15, 2022.
- Analysis of PGVs, including those in pancreatitis-associated genes and DNA/base repair genes.
Main Results:
- PGVs were identified in 14.7% (19/129) of pNEN patients.
- MUTYH alterations were the most common PGV, found in 3.9% (5/129) of patients.
- DNA or base repair PGVs accounted for 7.8% (10/129) of cases, and 7.7% of patients with available pancreatitis panels had PGVs in pancreatitis genes.
Conclusions:
- Germline testing may become a part of the standard care for pNEN patients.
- MUTYH alterations warrant further investigation as a potential risk factor for pNEN.
- Identifying PGVs can aid in risk stratification and personalized management of pNEN.
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