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Multiple endocrine neoplasia type 1 (MEN1): not only inherited endocrine tumors.
Genet Med. 2009 Dec; 11(12):825-35.GM

Abstract

MEN 1 is a rare hereditary cancer syndrome which manifests a variety of endocrine and non-endocrine neoplasms and lesions. Growing knowledge of this condition in both its molecular genetic underpinnings and its clinical implications have affected the entire spectrum of the clinical management of MEN patients. The MEN1 gene is a tumor suppressor gene, and mutations in it account for the development of the MEN1 clinical syndrome through impairment of several cell functions, such as cell proliferations, cell growth control, apoptosis, DNA replication and repair, gene expression, transcriptional machinery control, and hormone secretion. Currently, DNA testing makes possible the early identification of germline mutations in asymptomatic mutation carriers. The ever increrasing combination of genetic and clinical tools will allow early detection of MEN1-associated neoplasms, potentially improving clinical outcomes and quality of life for both affected patients and their relatives.

Authors+Show Affiliations

Regional Centre for Hereditary Endocrine Tumors, Unit of Metabolic Bone Diseases, Department of Internal Medicine, University of Florence, Florence, Italy.No 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
Review

Language

eng

PubMed ID

19904212

Citation

Falchetti, Alberto, et al. "Multiple Endocrine Neoplasia Type 1 (MEN1): Not Only Inherited Endocrine Tumors." Genetics in Medicine : Official Journal of the American College of Medical Genetics, vol. 11, no. 12, 2009, pp. 825-35.
Falchetti A, Marini F, Luzi E, et al. Multiple endocrine neoplasia type 1 (MEN1): not only inherited endocrine tumors. Genet Med. 2009;11(12):825-35.
Falchetti, A., Marini, F., Luzi, E., Giusti, F., Cavalli, L., Cavalli, T., & Brandi, M. L. (2009). Multiple endocrine neoplasia type 1 (MEN1): not only inherited endocrine tumors. Genetics in Medicine : Official Journal of the American College of Medical Genetics, 11(12), 825-35. https://doi.org/10.1097/GIM.0b013e3181be5c97
Falchetti A, et al. Multiple Endocrine Neoplasia Type 1 (MEN1): Not Only Inherited Endocrine Tumors. Genet Med. 2009;11(12):825-35. PubMed PMID: 19904212.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Multiple endocrine neoplasia type 1 (MEN1): not only inherited endocrine tumors. AU - Falchetti,Alberto, AU - Marini,Francesca, AU - Luzi,Ettore, AU - Giusti,Francesca, AU - Cavalli,Loredana, AU - Cavalli,Tiziana, AU - Brandi,Maria Luisa, PY - 2009/11/12/entrez PY - 2009/11/12/pubmed PY - 2010/3/6/medline SP - 825 EP - 35 JF - Genetics in medicine : official journal of the American College of Medical Genetics JO - Genet Med VL - 11 IS - 12 N2 - MEN 1 is a rare hereditary cancer syndrome which manifests a variety of endocrine and non-endocrine neoplasms and lesions. Growing knowledge of this condition in both its molecular genetic underpinnings and its clinical implications have affected the entire spectrum of the clinical management of MEN patients. The MEN1 gene is a tumor suppressor gene, and mutations in it account for the development of the MEN1 clinical syndrome through impairment of several cell functions, such as cell proliferations, cell growth control, apoptosis, DNA replication and repair, gene expression, transcriptional machinery control, and hormone secretion. Currently, DNA testing makes possible the early identification of germline mutations in asymptomatic mutation carriers. The ever increrasing combination of genetic and clinical tools will allow early detection of MEN1-associated neoplasms, potentially improving clinical outcomes and quality of life for both affected patients and their relatives. SN - 1530-0366 UR - https://www.unboundmedicine.com/medline/citation/19904212/Multiple_endocrine_neoplasia_type_1__MEN1_:_not_only_inherited_endocrine_tumors_ L2 - https://doi.org/10.1097/GIM.0b013e3181be5c97 DB - PRIME DP - Unbound Medicine ER -