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MEN1 gene mutations in 12 MEN1 families and their associated tumors.
Eur J Endocrinol. 1998 Oct; 139(4):416-20.EJ

Abstract

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant inherited tumor syndrome characterized by the development of multiple endocrine tumors. The gene responsible for the disease, termed MEN1 gene. has recently been isolated and germline mutations have been described in affected MEN1 individuals. Twelve unrelated (German MEN1 families and their associated tumors (5 parathyroid tumors, 1 vipoma, 1 gastrinoma, 1 insulinoma) were characterized for MEN1 gene mutations by single-strand conformational variant (SSCV) analysis and DNA sequence analysis as well as for loss of heterozygosity on chromosome 11q13. We identified nine different heterozygous germline mutations (6 frameshift, 2 missense, 1 nonsense), eight of them were novel. Four of five informative MEN1-associated tumors revealed deletion of the second MEN1 allele, supporting the concept of a tumor suppressor gene. Furthermore. SSCV analysis proved an effective and sensitive method for the detection of menin mutations providing a reliable genetic screening approach supporting genetic counseling and clinical management of MEN1 family members.

Authors+Show Affiliations

Department of Surgery of the Philipps-University, Marburg, Germany.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 availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

9820618

Citation

Bartsch, D, et al. "MEN1 Gene Mutations in 12 MEN1 Families and Their Associated Tumors." European Journal of Endocrinology, vol. 139, no. 4, 1998, pp. 416-20.
Bartsch D, Kopp I, Bergenfelz A, et al. MEN1 gene mutations in 12 MEN1 families and their associated tumors. Eur J Endocrinol. 1998;139(4):416-20.
Bartsch, D., Kopp, I., Bergenfelz, A., Rieder, H., Münch, K., Jäger, K., Deiss, Y., Schudy, A., Barth, P., Arnold, R., Rothmund, M., & Simon, B. (1998). MEN1 gene mutations in 12 MEN1 families and their associated tumors. European Journal of Endocrinology, 139(4), 416-20.
Bartsch D, et al. MEN1 Gene Mutations in 12 MEN1 Families and Their Associated Tumors. Eur J Endocrinol. 1998;139(4):416-20. PubMed PMID: 9820618.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - MEN1 gene mutations in 12 MEN1 families and their associated tumors. AU - Bartsch,D, AU - Kopp,I, AU - Bergenfelz,A, AU - Rieder,H, AU - Münch,K, AU - Jäger,K, AU - Deiss,Y, AU - Schudy,A, AU - Barth,P, AU - Arnold,R, AU - Rothmund,M, AU - Simon,B, PY - 1998/11/20/pubmed PY - 1998/11/20/medline PY - 1998/11/20/entrez SP - 416 EP - 20 JF - European journal of endocrinology JO - Eur J Endocrinol VL - 139 IS - 4 N2 - Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant inherited tumor syndrome characterized by the development of multiple endocrine tumors. The gene responsible for the disease, termed MEN1 gene. has recently been isolated and germline mutations have been described in affected MEN1 individuals. Twelve unrelated (German MEN1 families and their associated tumors (5 parathyroid tumors, 1 vipoma, 1 gastrinoma, 1 insulinoma) were characterized for MEN1 gene mutations by single-strand conformational variant (SSCV) analysis and DNA sequence analysis as well as for loss of heterozygosity on chromosome 11q13. We identified nine different heterozygous germline mutations (6 frameshift, 2 missense, 1 nonsense), eight of them were novel. Four of five informative MEN1-associated tumors revealed deletion of the second MEN1 allele, supporting the concept of a tumor suppressor gene. Furthermore. SSCV analysis proved an effective and sensitive method for the detection of menin mutations providing a reliable genetic screening approach supporting genetic counseling and clinical management of MEN1 family members. SN - 0804-4643 UR - https://www.unboundmedicine.com/medline/citation/9820618/MEN1_gene_mutations_in_12_MEN1_families_and_their_associated_tumors_ L2 - https://eje.bioscientifica.com/doi/10.1530/eje.0.1390416 DB - PRIME DP - Unbound Medicine ER -