ArticleEndocrine oncology (Bristol, England)2026
Pathogenic germline variants identified in pNEN patients during genetic testing.
Article in Endocrine oncology (Bristol, England), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Poor outcomes in pancreatic neuroendocrine neoplasms (pNENs) partially result from the inability to identify early-stage disease in patients. Prevention strategies have focused on identifying high-risk patients through genetic susceptibility genes. This study aims to report the incidence of pathogenic germline variants (PGVs) in pNEN. 129 pNEN patients that underwent germline testing with Invitae between September 5, 2019, and February 15, 2022, were retrospectively analyzed. PGVs were found in 14.7% (19/129) of pNENs. PGVs in pancreatitis genes were detected in 7.7% (3/39) of the 39 pNEN patients with an available pancreatitis panel.
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