PMID: 9437237Jan 23, 1998Paper

Menin mutations in patients with multiple endocrine neoplasia type 1

European Journal of Endocrinology
B MayrG Brabant

Abstract

Multiple endocrine neoplasia type 1 (MEN-1) is a familial cancer syndrome with parathyroid, pituitary and enteropancreatic tumors. The disease phenotype segregates with markers on chromosome 11q13. Very recently a new gene was cloned from this region and was found to carry mutations in 14 of 15 unrelated MEN-1 patients. The gene was termed menin and is predicted to code for a tumor suppressor protein of 610 amino acids, but its precise function is totally unknown. To confirm this finding we used PCR from genomic DNA and direct sequencing to analyze exons 2 through 10 of the menin gene in eight patients from four pedigrees with MEN-1 syndrome or an affected relative. We identified four different heterozygous mutations, three of them are novel: one nonsense mutation, one large deletion of 32 bp and two insertions, all of them located in exon 2. Our results confirm that patients with MEN-1 carry mutations in the menin gene.

Citations

Oct 18, 2000·Endocrinology and Metabolism Clinics of North America·R V Thakker
Jul 28, 1999·Bone·S J MarxS C Chandrasekharappa
Sep 1, 1999·Clinical Endocrinology·C J McCabeJ A Franklyn
Oct 4, 2006·Orphanet Journal of Rare Diseases·Francesca MariniMaria Luisa Brandi
Jun 16, 2001·Journal of Endocrinological Investigation·C BergwitzG Brabant
Sep 1, 2000·Seminars in Cancer Biology·F Ki WongB Tean Teh
Jan 17, 2019·The Journal of Chemical Physics·Markus SchöberlPhaedon-Stelios Koutsourelakis
Jan 5, 2000·Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B·J M Martín-CamposF Blanco-Vaca
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Oct 20, 2006·Molecular Cancer Research : MCR·Laura E MacConaillMatthew Meyerson

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