Literature DB >> 11788682

Atypical MEN type 2B associated with two germline RET mutations on the same allele not involving codon 918.

Fred H Menko1, Rob B van der Luijt, Irene A J de Valk, Arno W F T Toorians, Jan M Sepers, Paul J van Diest, Cornelis J M Lips.   

Abstract

A kindred was diagnosed with atypical MEN type 2B characterized by medullary thyroid cancer and mucosal neurilemmomas in multiple family members. Mutation analysis revealed a double RET germline mutation, Val804Met and Ser904Cys, in affected individuals. The clinical phenotype, the functional effect of the mutations, and the clinical implications of our findings are discussed.

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Year:  2002        PMID： 11788682     DOI： 10.1210/jcem.87.1.8136

Source DB:  PubMed          Journal:  J Clin Endocrinol Metab        ISSN： 0021-972X            Impact factor:   5.958


  27 in total

1.  A Drosophila model of multiple endocrine neoplasia type 2.

Authors:  Renee D Read; Paul J Goodfellow; Elaine R Mardis; Nancy Novak; Jon R Armstrong; Ross L Cagan
Journal:  Genetics       Date:  2005-06-18       Impact factor: 4.562

Review 2.  Multiple endocrine neoplasia type 2.

Authors:  Mariola Peczkowska; Andrzej Januszewicz
Journal:  Fam Cancer       Date:  2005       Impact factor: 2.375

Review 3.  Pheochromocytoma-associated syndromes: genes, proteins and functions of RET, VHL and SDHx.

Authors:  O Gimm
Journal:  Fam Cancer       Date:  2005       Impact factor: 2.375

Review 4.  Molecular pathogenesis of MEN2-associated tumors.

Authors:  Christian A Koch
Journal:  Fam Cancer       Date:  2005       Impact factor: 2.375

5.  2012 European thyroid association guidelines for genetic testing and its clinical consequences in medullary thyroid cancer.

Authors:  R Elisei; M Alevizaki; B Conte-Devolx; K Frank-Raue; V Leite; G R Williams
Journal:  Eur Thyroid J       Date:  2012-12-19

6.  Multiple Endocrine Neoplasia Type 2B: Early Diagnosis by Multiple Mucosal Neuroma and Its DNA Analysis.

Authors:  Min Jung Lee; Ki Hun Chung; Joon Soo Park; Hyun Chung; Hyo Chan Jang; Jong Won Kim
Journal:  Ann Dermatol       Date:  2010-11-05       Impact factor: 1.444

Review 7.  A comprehensive overview of the role of the RET proto-oncogene in thyroid carcinoma.

Authors:  Cristina Romei; Raffaele Ciampi; Rossella Elisei
Journal:  Nat Rev Endocrinol       Date:  2016-02-12       Impact factor: 43.330

Review 8.  Multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma: an update.

Authors:  Samuel A Wells; Furio Pacini; Bruce G Robinson; Massimo Santoro
Journal:  J Clin Endocrinol Metab       Date:  2013-06-06       Impact factor: 5.958

9.  Tandem Germline RET Mutations in a Family Pathogenetic for Multiple Endocrine Neoplasia 2B, Confirmed by a Natural Experiment.

Authors:  Minoru Kihara; Akira Miyauchi; Hiroshi Yoshida; Osamu Yamada; Hiroo Masuoka; Tomonori Yabuta; Takuya Higashiyama; Mitsuhiro Fukushima; Yasuhiro Ito; Kaoru Kobayashi; Akihiro Miya
Journal:  Eur Thyroid J       Date:  2014-12-03

10.  The newly detected mutations in the RET proto-oncogene in exon 16 as a cause of sporadic medullary thyroid carcinoma.

Authors:  S Jindrichova; R Kodet; L Krskova; P Vlcek; B Bendlova
Journal:  J Mol Med (Berl)       Date:  2003-11-15       Impact factor: 4.599
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