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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease multiple endocrine neoplasia
Comorbidity C0025268|multiple endocrine neoplasia type 2
Sentences 12
PubMedID- 21843357 multiple endocrine neoplasia type 2a (men2a) or sipple syndrome is an autosomal dominant syndrome, first described by sipple [1] and later characterized in multiple kindreds by schimke [2], caused by misense mutations in the ret protooncogene [3,4], a tyrosine kinase receptor.
PubMedID- 20063095 multiple endocrine neoplasia type 2 (men 2) syndrome is a rare autosomal inherited complex of endocrine tumors caused by a mutation in the rearranged during transfection (ret) proto-oncogene located on chromosome 10.
PubMedID- 21540209 For example, the multiple endocrine neoplasia type 2 (men 2), an inherited cancer syndrome characterized by medullary thyroid carcinoma (mtc) and pheochromocytoma (pc), was caused by germline mutations in the exon region, encoding one of three specific cysteine residues in the extracellular domain of the ret protein.
PubMedID- 22584711 Eight of 55 (14.5%) patients with multiple endocrine neoplasia type 2a had this variant whereas it was absent in multiple endocrine neoplasia type 2b, familial medullary thyroid carcinoma, sporadic medullary thyroid carcinoma, and sporadic pheochromocytoma groups, and its prevalence in controls was 1% (p<0.002 multiple endocrine neoplasia type 2a versus controls).
PubMedID- 22996645 Recently, a drosophila model of multiple endocrine neoplasia type 2, driven by overexpression of ret kinase (dret), was used to powerfully demonstrate how in vivo screening of polypharmacological kinase inhibitors could be combined with genetic analysis to fine-tune compounds for increased chemical efficacy and reduced toxicity (dar et al., 2012).
PubMedID- 22584709 multiple endocrine neoplasia type 2 (men2) is an autosomal-dominant hereditary cancer syndrome caused by missense mutations in the ret (rearranged during transfection) proto-oncogene, and these result in the gain-of-function of the encoding receptor tyrosine kinase (1).
PubMedID- 26444007 Mucosal neuromas are highly associated with multiple endocrine neoplasia type 2b (men-2b), which occurs in patients with germline mutation of ret genes [11].
PubMedID- 22584710 multiple endocrine neoplasia type 2 has been a model in clinical cancer genetics, demonstrating how knowledge of the genetic basis can shape the diagnosis and treatment of the disease.
PubMedID- 22584707 We will briefly review hirschsprung disease (hscr), multiple endocrine neoplasia type 2 (men2), and the co-segregation of these conditions in the few families that have been studied to date.
PubMedID- 24281099 multiple endocrine neoplasia type 2a (men 2a) was assigned to chromosome 10 by linkage analysis in 1987, when the location of the ret gene was still unknown [52].
PubMedID- 23236420 multiple endocrine neoplasia type 2 (men2) is composed of three clinical subtypes, multiple endocrine neoplasia type 2a (men2a), familial medullary thyroid carcinoma, and multiple endocrine neoplasia type 2b, all of which are associated with germline mutations in the ret proto-oncogene.
PubMedID- 25628771 multiple endocrine neoplasia type 2 (men2) is an autosomal dominant inherited endocrine malignancy syndrome, with an occurrence of approximately 1 in 30 000; men2 is due to germline mutations in the rearranged during transfection (ret) proto-oncogene (omim: 164761) [1,2], which includes the following three subtypes: men2a (omim: 171400); familial medullary thyroid cancer (fmtc; omim: 155240); and men2b (omim: 162300) [3].

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