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inactivating mutations of the MEN1 gene, encoding menin, an intracellular protein that interacts with transcription factors involved in cell cycle regulation and proliferation ( 8 ). Fifteen well-documented cases of parathyroid carcinoma (PC) and one atypical
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hyperparathyroidism (FIHP; CDC73/HRPT2 and GCM2 genes) and, rarely, in multiple endocrine neoplasia type 1 (MEN1, MEN1 gene) and 2A (MEN2A; RET gene) ( 2 , 3 ). MEN1 is a rare disorder characterized by PHPT, pituitary and gastroenteropancreatic
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, inheritance and prognosis of ACC associated with MEN1 remain unclear. The molecular pathogenesis of ACC has been associated with the tumor suppressor gene TP53 . An unusually high incidence of ACC has been found in children in southern Brazil and a founder
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pituitary (1) . MEN1 is caused by heterozygous germline mutations of the MEN1 gene, and tumours developed by MEN1 patients show loss of the remaining normal copy of the MEN1 gene, a ‘second-hit’, demonstrating the tumour suppressor function of its
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cortical tumours, carcinoids, facial angiofibromas, collagenomas and lipomas ( 1 ). MEN1-associated tumours show a loss of heterozygosity of the MEN1 gene, which is located on chromosome 11q13 and encodes the ubiquitously expressed, predominantly nuclear
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gene – the main molecular defect causing the MEN1 syndrome – have been detected in about 70–80% and 30% of patients with familial and sporadic MEN1 respectively (3) . The percentage in familial MEN1 rises to 90% if a search for large germline deletions
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Introduction Menin is a highly conserved protein encoded by the ubiquitously expressed MEN1 gene. It partakes in the regulation of various intracellular processes, including transcription, maintaining genome stability, proliferation and
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Institute of Clinical Endocrinology, Endocrinology Research Center, Moscow, Russian Federation
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55 patients. A custom-designed panel included genes associated or presumably associated with familial forms of PHPT, except MEN2A and FHH types 2 and 3: MEN1 , CASR , CDC73 , CDKN1A , CDKN1B , CDKN1C , CDKN2A , CDKN2C and CDKN2D . Primers
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sequencing for genes of interest: multiplex ligand-dependent probe amplification (MLPA) was used to assess for the presence of whole or partial gene deletions. The panel of genes assessed included: AIP , MEN1 , CDKN1B , SDHA, SDHB, SDHC, SDHD, SDHAF2, VHL
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– 434 . ( doi:10.1203/PDR.0b013e3181f1ca99 ). 51 Heude B Ong KK Luben R Wareham NJ Sandhu MS . Study of association between common variation in the insulin-like growth factor 2 gene and indices of obesity and body size in middle-aged men and