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Article

Genotype-phenotype correlation in multiple endocrine neoplasia type 1.

JCI insight - 13 Feb 2025

Worthy Charlita C, Tora Rana, Uttarkar Chandra N, Welch James M, Bliss Lynn, Cochran Craig, Ninan Anisha, Kumar Sheila, Wank Stephen, Auh Sungyoung, Weinstein Lee S, Simonds William F, Agarwal Sunita K, Blau Jenny E, Jha Smita

Abstract excerpt

BACKGROUNDAmong patients with multiple endocrine neoplasia type 1 (MEN1), 80% develop duodenopancreatic neuroendocrine tumors (dpNETs), of whom 15%-25% die of metastasis. There is a need to identify biomarkers to predict aggressive disease. MEN1 genotype affords an attractive possibility as a biomarker, as it remains constant during life. Currently, patients are clinically diagnosed with MEN1 by the presence of...

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Identifiers

PMID: 39946193
DOI: 10.1172/jci.insight.176993
PMCID: PMC11949022

Genes

MEN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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