ArticleAmerican journal of human genetics1998
Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders.
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 48 papers, 1 of them a synthesis that pooled it.
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Who cites it
48 citing papers in PubMed, 1 synthesis or guideline pooled it.
- American Association of Clinical Endocrinology Consensus Statement on Management of Multiple Endocrine Neoplasia Type 1.Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists · 2025Guideline
- Current Medical Controversies in Zollinger-Ellison Syndrome.Biomedicines · 2025Review
- Predictors of Mortality in Patients With Multiple Endocrine Neoplasia Type 1.Clinical endocrinology · 2025Article
- Disease prediction with multi-omics and biomarkers empowers case-control genetic discoveries in the UK Biobank.Nature genetics · 2024Article
- 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
- Multiple endocrine neoplasia type 1 withInternational cancer conference journal · 2024Article
- Clinical and molecular features of four Brazilian families with multiple endocrine neoplasia type 1.Frontiers in endocrinology · 2023Article
- Genotype-Phenotype Correlations in Asian Indian Children and Adolescents with Primary Hyperparathyroidism.Calcified tissue international · 2022Article
- Beyond the "3 Ps": A critical appraisal of the non-endocrine manifestations of multiple endocrine neoplasia type 1.Frontiers in endocrinology · 2022Review
- Clinical aspects of multiple endocrine neoplasia type 1.Nature reviews. Endocrinology · 2021Review
- Article
- A novel MEN1 pathogenic variant in an Italian patient with multiple endocrine neoplasia type 1.Molecular biology reports · 2020Article
- Phenotypes Associated With MEN1 Syndrome: A Focus on Genotype-Phenotype Correlations.Frontiers in endocrinology · 2020Review
- Multiple endocrine neoplasia type 1: analysis of germline MEN1 mutations in the Italian multicenter MEN1 patient database.Endocrine · 2018Article
- Primary hyperparathyroidism in young patients in Russia: high frequency of hyperparathyroidism-jaw tumor syndrome.Endocrine connections · 2017Article
- The future: genetics advances in MEN1 therapeutic approaches and management strategies.Endocrine-related cancer · 2017Review
- Loss of p27 expression is associated with MEN1 gene mutations in sporadic parathyroid adenomas.Endocrine · 2017Article
- Multiple endocrine neoplasia phenocopy revealed as a co-occurring neuroendocrine tumor and familial hypocalciuric hypercalcemia type 3.Clinical case reports · 2016Article
- Histologic and Molecular Profile of Pediatric Insulinomas: Evidence of a Paternal Parent-of-Origin Effect.The Journal of clinical endocrinology and metabolism · 2016Article
- Multiple Endocrine Neoplasia: Genetics and Clinical Management.Surgical oncology clinics of North America · 2015Review
Corrections and comments
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Authors and funding
41 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant syndrome predisposing to tumors of the parathyroid, endocrine pancreas, anterior pituitary, adrenal glands, and diffuse neuroendocrine tissues. The MEN1 gene has been assigned, by linkage analysis and loss of heterozygosity, to chromosome 11q13 and recently has been identified by positional cloning. In this study, a total of 84 families and/or isolated patients with either MEN1 or MEN1-related inherited endocrine tumors were screened for MEN1 germ-line mutations, by heteroduplex and sequence analysis of the MEN1 gene-coding region and untranslated exon 1. Germ-line MEN1 alterations were identified in 47/54 (87%) MEN1 families, in 9/11 (82%) isolated MEN1 patients, and in only 6/19 (31.5%) atypical MEN1-related inherited cases. We characterized 52 distinct mutations in a total of 62 MEN1 germ-line alterations. Thirty-five of the 52 mutations were frameshifts and nonsense mutations predicted to encode for a truncated MEN1 protein. We identified eight missense mutations and five in-frame deletions over the entire coding sequence. Six mutations were observed more than once in familial MEN1. Haplotype analysis in families with identical mutations indicate that these occurrences reflected mainly independent mutational events. No MEN1 germ-line mutations were found in 7/54 (13%) MEN1 families, in 2/11 (18%) isolated MEN1 cases, in 13/19 (68. 5%) MEN1-related cases, and in a kindred with familial isolated hyperparathyroidism. Two hundred twenty gene carriers (167 affected and 53 unaffected) were identified. No evidence of genotype-phenotype correlation was found. Age-related penetrance was estimated to be >95% at age >30 years. Our results add to the diversity of MEN1 germ-line mutations and provide new tools in genetic screening of MEN1 and clinically related cases.
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