Article

Follow-up study of a Colombian family with a novel MEN1 variant and rare ACTH-producing pancreatic neuroendocrine carcinoma

2023-12-08

Abstract excerpt

<h4>Purpose: </h4> This article reports on a 12-year follow-up of a Colombian family with a novel MEN1 gene variant (c.698dup, p.Met233IlefsTer4), identified through cascade genetic screening. The index case involved a rare type of tumor, an ACTH-secreting pancreatic neuroendocrine carcinoma. <h4>Methods: </h4> The index case underwent MEN1 testing after presenting with pancreatic neuroendocrine tumors and hyperpa...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 5854e39c-75a3-504f-a7d7-edab3d33b4c4
DOI: 10.21203/rs.3.rs-3711224/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Follow-up study of a Colombian family with a novel MEN1 variant and rare ACTH-producing pancreatic neuroendocrine carcinomaDOI 10.21203/rs.3.rs-3711224/v1Read

Multiple Endocrine Neoplasia Type 1 (MEN1): An Update and the Significance of Early Genetic and Clinical DiagnosisSemantic proximity Read

Multiple Endocrine Neoplasia Type 1.Semantic proximity Read

MEN1 clinical background.Semantic proximity Read

Clinical Practice Guidelines for Multiple Endocrine Neoplasia Type 1 (MEN1)Semantic proximity Read

Genetic Landscape and Clinical Manifestations of Multiple Endocrine Neoplasia Type 1 in a Korean Cohort: A Multicenter Retrospective Analysis.Semantic proximity Read

Phenotype and genotype of patients with multiple endocrine neoplasia type 1 studied in Argentina.Semantic proximity Read

Phenotypes Associated With MEN1 Syndrome: A Focus on Genotype-Phenotype Correlations.Semantic proximity Read

Concepts for screening and diagnostic follow-up in multiple endocrine neoplasia type 1 (MEN1).Semantic proximity Read

A large Turkish pedigree with multiple endocrine neoplasia type 1 syndrome carrying a rare mutation: c.1680_1683 del TGAG.Semantic proximity Read

Multiple endocrine neoplasia type 1 (MEN-1) and neuroendocrine neoplasms (NENs).Semantic proximity Read

The germline landscape of pituitary adenomas: established and emerging predisposition genes.Semantic proximity Read

Clinical Profile and Mutations Associated with Multiple Endocrine Neoplasia-Type1 (MEN1) and Their First-Degree Relatives at Risk of Developing MEN1: A Prospective Study.Semantic proximity Read