ArticleAmerican journal of human genetics1998
Characterization of mutations in patients with multiple endocrine neoplasia type 1.
Article in American journal of human genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 78 papers.
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Who cites it
78 citing papers in PubMed, 441 citations in OpenAlex.
- Pathogenic mobile element insertion in theJournal of medical genetics · 2026Article
- A case of multiple type I endocrine neoplasia with gastrin-producing and glucagon-producing tumors successfully resected 18 years after insulinoma surgery.Clinical journal of gastroenterology · 2026Article
- Parathyroid carcinoma: epidemiology and genetics.Endocrine oncology (Bristol, England) · 2026Review
- Current Medical Controversies in Zollinger-Ellison Syndrome.Biomedicines · 2025Review
- Predictors of Mortality in Patients With Multiple Endocrine Neoplasia Type 1.Clinical endocrinology · 2025Article
- Case Report: Novel likely pathogenicFrontiers in endocrinology · 2025Article
- A novel likely pathogenetic variant p.(Cys235Arg) of the MEN1 gene in multiple endocrine neoplasia type 1 with multifocal glucagonomas.Journal of endocrinological investigation · 2024Article
- Gene Mutations in Cushing's Syndrome.Molecular syndromology · 2023Review
- Cutaneous lesions and other non-endocrine manifestations of Multiple Endocrine Neoplasia type 1 syndrome.Frontiers in endocrinology · 2023Article
- The role of chance in cancer causation.La Medicina del lavoro · 2022Article
- Management and Long-Term Follow-Up of Hyperparathyroidism in Multiple Endocrine Neoplasia Type 1: Single Center Experience.Journal of clinical medicine · 2022Article
- Beyond the "3 Ps": A critical appraisal of the non-endocrine manifestations of multiple endocrine neoplasia type 1.Frontiers in endocrinology · 2022Review
- Novel Germline c.105_107dupGCTGenes · 2020Article
- Interplay Between Diabetes and Pancreatic Ductal Adenocarcinoma and Insulinoma: The Role of Aging, Genetic Factors, and Obesity.Frontiers in endocrinology · 2020Review
- Phenotypes Associated With MEN1 Syndrome: A Focus on Genotype-Phenotype Correlations.Frontiers in endocrinology · 2020Review
- Pituitary Metastatic Composite Tumors: A Case Report with Next-Generation Sequencing and Review of the Literature.Case reports in oncological medicine · 2020Article
- Novel Mutations in Serbian MEN1 Patients: Genotype-phenotype Correlation.Journal of medical biochemistry · 2019Article
- Multiple endocrine neoplasia type 1: analysis of germline MEN1 mutations in the Italian multicenter MEN1 patient database.Endocrine · 2018Article
- Current and emerging therapies for PNETs in patients with or without MEN1.Nature reviews. Endocrinology · 2018Review
- Synchronous Solid Pseudopapillary Tumor and Insulinoma in an Adolescent MEN1 Patient Presenting with Diagnostic Dilemmas.Journal of clinical research in pediatric endocrinology · 2017Article
18 more citing papers are in PubMed but not listed here.
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Authors and funding
14 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by tumors of the parathyroids, pancreatic islets, and anterior pituitary. The MEN1 gene, on chromosome 11q13, has recently been cloned, and mutations have been identified. We have characterized such MEN1 mutations, assessed the reliability of SSCP analysis for the detection of these mutations, and estimated the age-related penetrance for MEN1. Sixty-three unrelated MEN1 kindreds (195 affected and 396 unaffected members) were investigated for mutations in the 2,790-bp coding region and splice sites, by SSCP and DNA sequence analysis. We identified 47 mutations (12 nonsense mutations, 21 deletions, 7 insertions, 1 donor splice-site mutation, and 6 missense mutations), that were scattered throughout the coding region, together with six polymorphisms that had heterozygosity frequencies of 2%-44%. More than 10% of the mutations arose de novo, and four mutation hot spots accounted for >25% of the mutations. SSCP was found to be a sensitive and specific mutational screening method that detected >85% of the mutations. Two hundred and one MEN1 mutant-gene carriers (155 affected and 46 unaffected) were identified, and these helped to define the age-related penetrance of MEN1 as 7%, 52%, 87%, 98%, 99%, and 100% at 10, 20, 30, 40, 50, and 60 years of age, respectively. These results provide the basis for a molecular-genetic screening approach that will supplement the clinical evaluation and genetic counseling of members of MEN1 families.
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