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MEN1 gene and its mutations: basic and clinical implications.
Cancer Sci. 2009 Feb; 100(2):209-15.CS

Abstract

Heterozygous germline mutations of the tumor-suppressor gene MEN1 are responsible for multiple endocrine neoplasia type 1 (MEN1), a dominantly inherited familial cancer syndrome characterized by pituitary, parathyroid, and enteropancreatic tumors. Various mutations have been identified throughout the entire gene region in patients with MEN1 and related disorders. Neither mutation hot spot nor phenotype–genotype correlation has been established in MEN1 although some missense mutations may be specifically associated with a phenotype of familial isolated hyperparathyroidism. The gene product menin has been implicated in multiple roles, including gene transcription, maintenance of genomic integrity, and control of cell division and differentiation. These multiple functions are likely to be conferred by association with multiple protein factors. Occurrence of MEN1-causing missense mutations throughout menin also suggests the requirement of multiple binding factors for its full tumor-suppressive activity. The effect of menin depletion is highly tissue specific, but its underlying mechanism remains to be elucidated. A DNA test for MEN1 germline mutations is a useful tool for diagnosis of MEN1 although it needs further improvements

Authors+Show Affiliations

Tumor Endocrinology Project, National Cancer Center Research Institute, 5-1-1 Tsukiji, Chuo-ku, Tokyo, Japan. ttsukada@ncc.go.jpNo affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

19068082

Citation

Tsukada, Toshihiko, et al. "MEN1 Gene and Its Mutations: Basic and Clinical Implications." Cancer Science, vol. 100, no. 2, 2009, pp. 209-15.
Tsukada T, Nagamura Y, Ohkura N. MEN1 gene and its mutations: basic and clinical implications. Cancer Sci. 2009;100(2):209-15.
Tsukada, T., Nagamura, Y., & Ohkura, N. (2009). MEN1 gene and its mutations: basic and clinical implications. Cancer Science, 100(2), 209-15. https://doi.org/10.1111/j.1349-7006.2008.01034.x
Tsukada T, Nagamura Y, Ohkura N. MEN1 Gene and Its Mutations: Basic and Clinical Implications. Cancer Sci. 2009;100(2):209-15. PubMed PMID: 19068082.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - MEN1 gene and its mutations: basic and clinical implications. AU - Tsukada,Toshihiko, AU - Nagamura,Yuko, AU - Ohkura,Naganari, PY - 2008/12/11/pubmed PY - 2011/4/27/medline PY - 2008/12/11/entrez SP - 209 EP - 15 JF - Cancer science JO - Cancer Sci VL - 100 IS - 2 N2 - Heterozygous germline mutations of the tumor-suppressor gene MEN1 are responsible for multiple endocrine neoplasia type 1 (MEN1), a dominantly inherited familial cancer syndrome characterized by pituitary, parathyroid, and enteropancreatic tumors. Various mutations have been identified throughout the entire gene region in patients with MEN1 and related disorders. Neither mutation hot spot nor phenotype–genotype correlation has been established in MEN1 although some missense mutations may be specifically associated with a phenotype of familial isolated hyperparathyroidism. The gene product menin has been implicated in multiple roles, including gene transcription, maintenance of genomic integrity, and control of cell division and differentiation. These multiple functions are likely to be conferred by association with multiple protein factors. Occurrence of MEN1-causing missense mutations throughout menin also suggests the requirement of multiple binding factors for its full tumor-suppressive activity. The effect of menin depletion is highly tissue specific, but its underlying mechanism remains to be elucidated. A DNA test for MEN1 germline mutations is a useful tool for diagnosis of MEN1 although it needs further improvements SN - 1349-7006 UR - https://www.unboundmedicine.com/medline/citation/19068082/MEN1_gene_and_its_mutations:_basic_and_clinical_implications_ L2 - https://doi.org/10.1111/j.1349-7006.2008.01034.x DB - PRIME DP - Unbound Medicine ER -