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MEN1 mutation analysis in Chinese patients with multiple endocrine neoplasia type 1.
Endocr Relat Cancer. 2007 Dec; 14(4):1073-9.ER

Abstract

Multiple endocrine neoplasia type 1 (MEN1) is an inherited tumour syndrome characterized by the development of tumours of the parathyroid, anterior pituitary and pancreatic islets, etc. Heterozygous germ line mutations of MEN1 gene are responsible for the onset of MEN1. We investigated the probands and 31 family members from eight unrelated Chinese families associated with MEN1 and identified four novel mutations, namely 373_374ins18, 822delT, 259delT and 1092delC, as well as three previously reported mutations, such as 357_360delCTGT, 427_428delTA and R108X (CGA>TGA) of MEN1 gene. Furthermore, we detected a loss of heterozygosity (LOH) at chromosome 11q in the removed tumours, including gastrinoma, insulinoma and parathyroid adenoma from two probands of MEN1 families. RT-PCR and direct sequencing showed that mutant MEN1 transcripts remained in the MEN1-associated endocrine tumours, whereas normal menin proteins could not be detected in those tumours by either immunohistochemistry or immunoblotting. In conclusion, MEN1 heterozygous mutations are associated with LOH and menin absence, which are present in MEN1-associated endocrine tumours.

Authors+Show Affiliations

Shanghai Clinical Center for Endocrine and Metabolic Diseases,, Shanghai Institute of Endocrinology and Metabolism and Chinese-French Laboratory of Genomics and Life Sciences, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, China.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 availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

18045958

Citation

Jiang, Xiao-Hua, et al. "MEN1 Mutation Analysis in Chinese Patients With Multiple Endocrine Neoplasia Type 1." Endocrine-related Cancer, vol. 14, no. 4, 2007, pp. 1073-9.
Jiang XH, Lu JL, Cui B, et al. MEN1 mutation analysis in Chinese patients with multiple endocrine neoplasia type 1. Endocr Relat Cancer. 2007;14(4):1073-9.
Jiang, X. H., Lu, J. L., Cui, B., Zhao, Y. J., Wang, W. Q., Liu, J. M., Fang, W. Q., Cao, Y. N., Ge, Y., Zhang, C. X., Casse, H., Li, X. Y., & Ning, G. (2007). MEN1 mutation analysis in Chinese patients with multiple endocrine neoplasia type 1. Endocrine-related Cancer, 14(4), 1073-9.
Jiang XH, et al. MEN1 Mutation Analysis in Chinese Patients With Multiple Endocrine Neoplasia Type 1. Endocr Relat Cancer. 2007;14(4):1073-9. PubMed PMID: 18045958.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - MEN1 mutation analysis in Chinese patients with multiple endocrine neoplasia type 1. AU - Jiang,Xiao-Hua, AU - Lu,Jie-Li, AU - Cui,Bin, AU - Zhao,Yong-Ju, AU - Wang,Wei-qing, AU - Liu,Jian-Min, AU - Fang,Wen-Qiang, AU - Cao,Ya-Nan, AU - Ge,Yan, AU - Zhang,Chang-xian, AU - Casse,Huguette, AU - Li,Xiao-Ying, AU - Ning,Guang, PY - 2007/11/30/pubmed PY - 2008/2/26/medline PY - 2007/11/30/entrez SP - 1073 EP - 9 JF - Endocrine-related cancer JO - Endocr Relat Cancer VL - 14 IS - 4 N2 - Multiple endocrine neoplasia type 1 (MEN1) is an inherited tumour syndrome characterized by the development of tumours of the parathyroid, anterior pituitary and pancreatic islets, etc. Heterozygous germ line mutations of MEN1 gene are responsible for the onset of MEN1. We investigated the probands and 31 family members from eight unrelated Chinese families associated with MEN1 and identified four novel mutations, namely 373_374ins18, 822delT, 259delT and 1092delC, as well as three previously reported mutations, such as 357_360delCTGT, 427_428delTA and R108X (CGA>TGA) of MEN1 gene. Furthermore, we detected a loss of heterozygosity (LOH) at chromosome 11q in the removed tumours, including gastrinoma, insulinoma and parathyroid adenoma from two probands of MEN1 families. RT-PCR and direct sequencing showed that mutant MEN1 transcripts remained in the MEN1-associated endocrine tumours, whereas normal menin proteins could not be detected in those tumours by either immunohistochemistry or immunoblotting. In conclusion, MEN1 heterozygous mutations are associated with LOH and menin absence, which are present in MEN1-associated endocrine tumours. SN - 1351-0088 UR - https://www.unboundmedicine.com/medline/citation/18045958/MEN1_mutation_analysis_in_Chinese_patients_with_multiple_endocrine_neoplasia_type_1_ L2 - https://erc.bioscientifica.com/doi/10.1677/ERC-07-0015 DB - PRIME DP - Unbound Medicine ER -