Multiple endocrine neoplasia type 1 (MEN1) is a complex syndrome defined by the neoplastic transformation of at least two endocrine organs, most frequently parathyroid glands, pancreatic islets, anterior pituitary and endocrine pancreas. There is abundant evidence published associating the MEN1 gene with multiple endocrine neoplasia type 1, since the gene-disease relationship was first proposed by Chandrasekharappa SC, et al., 1997 (PMID: 9103196). Multiple case level studies have been performed with MEN1 patients that have variants in the MEN1 gene. The variants include single amino acid changes or deletions that affect the stability of the protein and nonsense or frameshift LOF variants. A significant amount of case-level data is available; the maximum points for genetic evidence has been reached (12 points). Multiple mouse models of MEN1 have been established to show development of tumors consistent with MEN1 syndrome. In summary, MEN1 is definitively associated with the autosomal autosomal dominant Multiple Endocrine Neoplasia Type 1 syndrome. This has been demonstrated in both the research and clinical diagnostic settings and has been upheld over time.
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
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