Multiple Endocrine Neoplasia Type 1

Marx, Stephen J.

doi:10.1016/b978-012098651-4/50037-7

Cited by 25 publications

(27 citation statements)

References 376 publications

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“…The comparatively low percentage of MEN1-positive families in our test population is to be expected because many pedigrees did not meet standard clinical criteria for familial MEN1: a proband with at least two neoplasms in major MEN1-related tissues (parathyroids, anterior pituitary, or pancreatic islets) and at least one additional first degree relative with an MEN1-related endocrinopathy. 7 Among pedigrees strictly defined as having familial MEN1, we found mutations in 76.3%, which approaches the rates reported by others. 8,20,22,26,33,34 In pedigrees that do meet the diagnostic criteria for familial MEN1, a failure to find mutations in the MEN1 gene could reflect the presence of functionally significant intronic muta- Fig.…”

Section: Discussionsupporting

confidence: 71%

“…3,6 Based on biochemical data, the prevalence of MEN1 is estimated at 10 to 175 per 1,000,000 individuals, although autopsy findings suggest that the frequency of occurrence may be as high as 25 per 10,000. 7 The clinical expression of MEN1 generally manifests in the third to fourth decade, with nearly complete penetrance by the early fifties. Clinical disease is uncommon before 10 years of age.…”

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confidence: 99%

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Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory

Klein

Salih

Bessoni

et al. 2005

Genetics in Medicine

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Purpose: Based on results of diagnostic MEN1 testing, we have attempted to further define the mutational spectrum of the MEN1 gene and the clinical features most frequently associated with MEN1 mutations. Methods:Mutation testing was performed on blood samples by PCR amplification and sequencing of exons 2 to 10 of the MEN1 gene and the corresponding intron-exon junctions. Pedigree phenotypic information was obtained by written questionnaire. Results: Among 288 presumably unrelated pedigrees, 73 independent mutations were found in 89 families. Five mutations were found in 2 pedigrees, and 4 mutations were seen in more than 2 pedigrees. There were 17 nonsense mutations (23.3%), 2 in-frame deletions (2.7%), 18 frameshift-deletion mutations (24.7%), 10 frameshift-insertion or -duplication mutations (13.7%), 13 splice-site mutations (17.8%), and 13 presumptive

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Section: Discussionsupporting

confidence: 71%

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confidence: 99%

Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory

Klein

Salih

Bessoni

et al. 2005

Genetics in Medicine

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“…We ultimately identified 16 MEN1 index patients, accounting for 41% of hyperparathyroidism patients who were recommended and consented to undergo MEN1 genetic analysis. since the prevalence of Men1 patients is 2-4% in all cases of primary hyperparathyroidism [22,23], the detection rate can be considered high. We can conclude that this strategy is very useful to detect Men1 index patients also in Japan.…”

Section: Discussionmentioning

confidence: 99%

“…it is notable that the age of onset of hyperparathyroidism in Men1 patients is 20-25 years, that is, 30 years earlier than that due to sporadic parathyroid adenoma [14,[23][24][25]. brandi et al regarded patients having multiple enlarged glands before age 30 as an indicator of MEN1 genetic analysis [16].…”

Section: Discussionmentioning

confidence: 99%

MEN1 Gene Analysis in Patients with Primary Hyperparathyroidism: 10-year Experience of a Single Institution for Thyroid and Parathyroid Care in Japan

et al. 2009

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“…At a lower penetrance, foregut carcinoids and adrenal tumors also can occur, as well as hormone nonproducing tumors, such as facial angiofibroma, truncal collagenoma, lipoma, leiomyoma, meningioma, and ependymoma (1). Loss-of-function mutations in the tumor suppressor gene MEN1 are responsible for the syndrome (2).…”

Section: Introductionmentioning

confidence: 99%

Mouse Embryo Fibroblasts Lacking the Tumor Suppressor Menin Show Altered Expression of Extracellular Matrix Protein Genes

Ji¹,

Prasad²,

Novotny³

et al. 2007

Molecular Cancer Research

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Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant familial cancer syndrome characterized primarily by endocrine tumors of the parathyroids, anterior pituitary, and enteropancreatic endocrine tissues. Affected individuals carry a germ-line loss-of-function mutation of the MEN1 gene, and tumors arise after loss of the second allele. Homozygous loss of Men1 in the germ line of mice results in early embryonic lethality, with defective development of neural tube, heart, liver, and craniofacial structures. We generated immortalized wild-type (WT) and menin-null mouse embryo fibroblast (MEF) cell lines and evaluated their characteristics, including global expression patterns. The WT and menin-null cell lines were aneuploid, and the nulls did not display tumorigenic characteristics in soft agar assay. Expression arrays in menin-null MEFs revealed altered expression of several extracellular matrix proteins that are critical in organogenesis. Specifically, transcripts for fibulin 2 (Fbln2), periostin (Postn), and versican [chondroitin sulfate proteoglycan (Cspg2)], genes critical for the developing heart and known to be induced by transforming growth factor-B (TGF-B), were decreased in their expression in menin-null MEFs. Fbln2 expression was the most affected, and the reduction in menin-null MEFs for Fbln2, Postn, and Cspg2 was 16.18-, 5.37-, and 2.15-fold, respectively. Menin-null MEFs also showed poor response to TGF-B -induced Smad3-mediated transcription in a reporter assay, supporting a role for menin in this pathway. Postn and Cspg2 expression in WT, unlike in null MEFs, increased on TGF-B treatment. The expression changes associated with the loss of the tumor suppressor menin provide insights into the defective organogenesis observed during early embryonic development in Men1-null mouse embryos.

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Multiple Endocrine Neoplasia Type 1

Cited by 25 publications

References 376 publications

Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory

Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory

MEN1 Gene Analysis in Patients with Primary Hyperparathyroidism: 10-year Experience of a Single Institution for Thyroid and Parathyroid Care in Japan

Mouse Embryo Fibroblasts Lacking the Tumor Suppressor Menin Show Altered Expression of Extracellular Matrix Protein Genes

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