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Six novel MEN1 gene mutations in sporadic parathyroid tumors.
Hum Mutat. 2000 Nov; 16(5):445.HM

Abstract

We report nine mutations of the multiple endocrine neoplasia type 1 (MEN1) gene in sporadic parathyroid adenomas. Six of them have not previously been described: E60X, P32R, 261delA, 934+2T-->G, S443P, and 1593insC. The tissue samples were initially submitted to LOH analysis at 11q13 followed by SSCP screening of LOH-positive samples. Mutations were identified by direct sequencing and subcloning. Three (E60X, P32R, and 261delA) were in exon 2, one (934+2bp) in the splice junction of exon 5, one (S443P) in exon 9, and one (1593insC) in exon 10. The 3 mutations in exon 2 were associated with loss and/or creation of a restriction site. The corresponding germline sequence of the MEN1 gene was normal. Most mutations would likely result in a nonfunctional menin protein, and therefore in the loss of a tumor suppressor protein.

Authors+Show Affiliations

Dipartimento di Endocrinologia e Metabolismo, Ortopedia e Traumatologia, Medicina del Lavoro, Università di Pisa, Pisa, Italy.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

11058905

Citation

Cetani, F, et al. "Six Novel MEN1 Gene Mutations in Sporadic Parathyroid Tumors." Human Mutation, vol. 16, no. 5, 2000, p. 445.
Cetani F, Pardi E, Giovannetti A, et al. Six novel MEN1 gene mutations in sporadic parathyroid tumors. Hum Mutat. 2000;16(5):445.
Cetani, F., Pardi, E., Giovannetti, A., Cerrai, P., Borsari, S., Vignali, E., Picone, A., Cianferotti, L., Miccoli, P., Pinchera, A., & Marcocci, C. (2000). Six novel MEN1 gene mutations in sporadic parathyroid tumors. Human Mutation, 16(5), 445.
Cetani F, et al. Six Novel MEN1 Gene Mutations in Sporadic Parathyroid Tumors. Hum Mutat. 2000;16(5):445. PubMed PMID: 11058905.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Six novel MEN1 gene mutations in sporadic parathyroid tumors. AU - Cetani,F, AU - Pardi,E, AU - Giovannetti,A, AU - Cerrai,P, AU - Borsari,S, AU - Vignali,E, AU - Picone,A, AU - Cianferotti,L, AU - Miccoli,P, AU - Pinchera,A, AU - Marcocci,C, PY - 2000/11/3/pubmed PY - 2001/2/28/medline PY - 2000/11/3/entrez SP - 445 EP - 445 JF - Human mutation JO - Hum Mutat VL - 16 IS - 5 N2 - We report nine mutations of the multiple endocrine neoplasia type 1 (MEN1) gene in sporadic parathyroid adenomas. Six of them have not previously been described: E60X, P32R, 261delA, 934+2T-->G, S443P, and 1593insC. The tissue samples were initially submitted to LOH analysis at 11q13 followed by SSCP screening of LOH-positive samples. Mutations were identified by direct sequencing and subcloning. Three (E60X, P32R, and 261delA) were in exon 2, one (934+2bp) in the splice junction of exon 5, one (S443P) in exon 9, and one (1593insC) in exon 10. The 3 mutations in exon 2 were associated with loss and/or creation of a restriction site. The corresponding germline sequence of the MEN1 gene was normal. Most mutations would likely result in a nonfunctional menin protein, and therefore in the loss of a tumor suppressor protein. SN - 1098-1004 UR - https://www.unboundmedicine.com/medline/citation/11058905/Six_novel_MEN1_gene_mutations_in_sporadic_parathyroid_tumors_ L2 - https://doi.org/10.1002/1098-1004(200011)16:5<445::AID-HUMU12>3.0.CO;2-6 DB - PRIME DP - Unbound Medicine ER -