P624: Multiple-variant MEN1 haplotypes observed in multiple endocrine neoplasia type 1

Genetics in Medicine Open 2026 Open access

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Authors: Laura I. Hudish, Terra Brannan, Chase M. Beeman, Raza Chaudhry, Kelcy J. Smith-Simmer, Brittany F. Sears
DOI: 10.1016/j.gimo.2026.104114
Cited by: 0

Abstract

Multiple endocrine neoplasia 1 (MEN1) is a tumor predisposition syndrome characterized by increased risk for numerous neoplasms, including those of the parathyroid, pituitary, and gastroenteropancreatic tract. Although most molecularly diagnosed cases carry a single pathogenic variant (PV) in MEN1, which encodes the protein menin, a commercial laboratory identified two families in which probands were found to carry multiple MEN1 variants in cis. In isolation, each of these variants is currently classified as a variant of uncertain significance (VUS).

Fields of Study & Subjects

Neuroendocrine Tumor Research Advances Genomics and Rare Diseases Genetic factors in colorectal cancer

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104114–104114
Publication date
1 January 2026
Language
EN