We have contributed to an intramural NIH collaboration that has cloned the MEN1 gene. We are continuing to explore its clinical and its basic implications. We have proven that it causes nonendocrine tumors (angiofibroma, collagenoma, and leiomyoma). We have identified an MEN1 variant in three large families with infrequent gastrinoma. We find germline mutations in 70-80% of probands with familial MEN1 or at lower prevalence in cases with sporadic MEN1. In contrast, probands with familial isolated hyperparathyroidism have rare (about 5%) MEN1 mutations. Among the MEN1-like families without MEN1 mutation, a rare family shows mutation of the p27 gene. p27 mutation in MEN1 is about 1% the frequency of MEN1 mutation. We will continue to explore these and other states for germline MEN1 mutations. We have also found somatic MEN1 mutation in 15 to 35% of sporadic tumors of many endocrine organs. Thus MEN1 is the gene most frequently implicated in common endocrine tumors. We will also determine the spectrum of pathologic states that the MEN1 gene contributes to through mutation and other mechanisms.
| Ozawa, Atsushi; Agarwal, Sunita K; Mateo, Carmen M et al. (2007) The parathyroid/pituitary variant of multiple endocrine neoplasia type 1 usually has causes other than p27Kip1 mutations. J Clin Endocrinol Metab 92:1948-51 |
| Marx, Stephen J; Simonds, William F (2006) Editorial: Imaging to detect early endocrine cancers. J Clin Endocrinol Metab 91:2861-3 |
| Scacheri, Peter C; Davis, Sean; Odom, Duncan T et al. (2006) Genome-wide analysis of menin binding provides insights into MEN1 tumorigenesis. PLoS Genet 2:e51 |
| Cerrato, Aniello; Parisi, Michael; Santa Anna, Sonia et al. (2006) Genetic interactions between Drosophila melanogaster menin and Jun/Fos. Dev Biol 298:59-70 |
| Marx, Stephen J (2005) Molecular genetics of multiple endocrine neoplasia types 1 and 2. Nat Rev Cancer 5:367-75 |
| Marx, S J; Stratakis, C A (2005) Multiple endocrine neoplasia--introduction. J Intern Med 257:2-5 |
| Marx, Stephen J; Simonds, William F (2005) Hereditary hormone excess: genes, molecular pathways, and syndromes. Endocr Rev 26:615-61 |
| Agarwal, S K; Kennedy, P A; Scacheri, P C et al. (2005) Menin molecular interactions: insights into normal functions and tumorigenesis. Horm Metab Res 37:369-74 |
| Agarwal, Sunita K; Lee Burns, A; Sukhodolets, Karen E et al. (2004) Molecular pathology of the MEN1 gene. Ann N Y Acad Sci 1014:189-98 |
| Scacheri, Peter C; Crabtree, Judy S; Kennedy, Alyssa L et al. (2004) Homozygous loss of menin is well tolerated in liver, a tissue not affected in MEN1. Mamm Genome 15:872-7 |
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