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• W2745793308 endingPage "T208" @default.
• W2745793308 startingPage "T195" @default.
• W2745793308 abstract "Multiple endocrine neoplasia (MEN) refers to a group of autosomal dominant disorders with generally high penetrance that lead to the development of a wide spectrum of endocrine and non-endocrine manifestations. The most frequent among these conditions is MEN type 1 (MEN1), which is caused by germline heterozygous loss-of-function mutations in the tumor suppressor gene MEN1 . MEN1 is characterized by primary hyperparathyroidism (PHPT) and functional or nonfunctional pancreatic neuroendocrine tumors and pituitary adenomas. Approximately 10% of patients with familial or sporadic MEN1-like phenotype do not have MEN1 mutations or deletions. A novel MEN syndrome was discovered, initially in rats (MENX), and later in humans (MEN4), which is caused by germline mutations in the putative tumor suppressor CDKN1B . The most common phenotype of the 19 established cases of MEN4 that have been described to date is PHPT followed by pituitary adenomas. Recently, somatic or germline mutations in CDKN1B were also identified in patients with sporadic PHPT, small intestinal neuroendocrine tumors, lymphoma and breast cancer, demonstrating a novel role for CDKN1B as a tumor susceptibility gene for other neoplasms. In this review, we report on the genetic characterization and clinical features of MEN4." @default.
• W2745793308 created "2017-08-31" @default.
• W2745793308 creator A5031897654 @default.
• W2745793308 creator A5042186928 @default.
• W2745793308 creator A5076156629 @default.
• W2745793308 date "2017-10-01" @default.
• W2745793308 modified "2023-10-03" @default.
• W2745793308 title "MEN4 and CDKN1B mutations: the latest of the MEN syndromes" @default.
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• W2745793308 doi "https://doi.org/10.1530/erc-17-0243" @default.
• W2745793308 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5623937" @default.

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