Introduction
[Note: Many of the medical and scientific terms used in this summary are found in the NCI Dictionary of Genetics Terms. When a linked term is clicked, the definition will appear in a separate window.]
[Note: Many of the genes described in this summary are found in the Online Mendelian Inheritance in Man (OMIM) database. When OMIM appears after a gene name or the name of a condition, click on OMIM for a link to more information.]
There are several hereditary syndromes that involve endocrine or neuroendocrine glands, such as multiple endocrine neoplasia type 1 (MEN1), multiple endocrine neoplasia type 2 (MEN2), pheochromocytoma, paraganglioma, and von Hippel-Lindau syndrome. This summary currently focuses on MEN1 and MEN2. Additional sections are in progress.
Incidence and PrevalenceMEN1 is an autosomal dominant syndrome with an estimated incidence in the general population of 1 to 2 per 100,000.[1]
The prevalence of MEN2 has been estimated to be between 1 in 30,000 [2,3] and 1 in 35,000.[4] The vast majority of MEN1 cases are MEN2A. In the United States, an estimated 423 cases of MEN2-related medullary thyroid cancer are diagnosed per year.[5]
References- Chandrasekharappa SC, Teh BT: Clinical and molecular aspects of multiple endocrine neoplasia type 1. Front Horm Res 28: 50-80, 2001. [PUBMED Abstract]
- Mulligan LM, Kwok JB, Healey CS, et al.: Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature 363 (6428): 458-60, 1993. [PUBMED Abstract]
- Donis-Keller H, Dou S, Chi D, et al.: Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC. Hum Mol Genet 2 (7): 851-6, 1993. [PUBMED Abstract]
- DeLellis RA, Lloyd RV, Heitz PU, et al., eds.: Pathology and Genetics of Tumours of Endocrine Organs. Lyon, France: IARC Press, 2004. World Health Organization classification of tumours, vol. 8.
- American Cancer Society.: Cancer Facts and Figures 2012. Atlanta, Ga: American Cancer Society, 2012. Available online. Last accessed November 23, 2012.
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