Literature DB >> 25759805

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

Minoru Kihara1, Akira Miyauchi1, Hiroshi Yoshida2, Osamu Yamada1, Hiroo Masuoka1, Tomonori Yabuta1, Takuya Higashiyama1, Mitsuhiro Fukushima1, Yasuhiro Ito1, Kaoru Kobayashi1, Akihiro Miya1.   

Abstract

A family with germline tandem V804M/Y806C mutations in the RET proto-oncogene was reported. The in vitro study results showing that these mutations were on the same allele and that RET with these mutations had a moderate transforming activity were confirmed by the clinical features of the offspring as a natural experiment. Thus, the tandem double RET mutations are pathogenetic for MEN 2B.

Entities:  

Keywords:  De novo mutation; Medullary thyroid carcinoma; Multiple endocrine neoplasia 2B; RET; Tandem mutations

Year:  2014        PMID： 25759805      PMCID： PMC4311302          DOI： 10.1159/000369134

Source DB:  PubMed          Journal:  Eur Thyroid J        ISSN： 2235-0640


  12 in total

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

Authors:  Fred H Menko; 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
Journal:  J Clin Endocrinol Metab       Date:  2002-01       Impact factor: 5.958

2.  Familial medullary thyroid carcinoma and prominent corneal nerves associated with the germline V804M and V778I mutations on the same allele of RET.

Authors:  L Kasprzak; S Nolet; L Gaboury; C Pavia; C Villabona; F Rivera-Fillat; J Oriola; W D Foulkes
Journal:  J Med Genet       Date:  2001-11       Impact factor: 6.318

3.  A RET double mutation in the germline of a kindred with FMTC.

Authors:  D K Bartsch; C Hasse; C Schug; P Barth; M Rothmund; W Höppner
Journal:  Exp Clin Endocrinol Diabetes       Date:  2000       Impact factor: 2.949

4.  A two-hit model for development of multiple endocrine neoplasia type 2B by RET mutations.

Authors:  T Iwashita; H Murakami; K Kurokawa; K Kawai; A Miyauchi; H Futami; S Qiao; M Ichihara; M Takahashi
Journal:  Biochem Biophys Res Commun       Date:  2000-02-24       Impact factor: 3.575

5.  A novel case of multiple endocrine neoplasia type 2A associated with two de novo mutations of the RET protooncogene.

Authors:  A Tessitore; A A Sinisi; D Pasquali; M Cardone; D Vitale; A Bellastella; V Colantuoni
Journal:  J Clin Endocrinol Metab       Date:  1999-10       Impact factor: 5.958

6.  Double germline mutations in the RET Proto-oncogene in MEN 2A and MEN 2B kindreds.

Authors:  S Dvorakova; E Vaclavikova; A Ryska; J Cap; P Vlcek; J Duskova; D Kodetova; V Holub; Z Novak; B Bendlova
Journal:  Exp Clin Endocrinol Diabetes       Date:  2006-04       Impact factor: 2.949

7.  High penetrance of pheochromocytoma associated with the novel C634Y/Y791F double germline mutation in the RET protooncogene.

Authors:  Rodrigo A Toledo; Simona M Wagner; Flavia L Coutinho; Delmar M Lourenço; Juliana A Azevedo; Viviane C Longuini; Mariana T A Reis; Sheila A C Siqueira; Antonio M Lucon; Marcos R Tavares; Maria C B V Fragoso; Adelaide A Pereira; Patricia L M Dahia; Lois M Mulligan; Sergio P A Toledo
Journal:  J Clin Endocrinol Metab       Date:  2010-01-15       Impact factor: 5.958

Review 8.  Medullary thyroid cancer: management guidelines of the American Thyroid Association.

Authors:  Richard T Kloos; Charis Eng; Douglas B Evans; Gary L Francis; Robert F Gagel; Hossein Gharib; Jeffrey F Moley; Furio Pacini; Matthew D Ringel; Martin Schlumberger; Samuel A Wells
Journal:  Thyroid       Date:  2009-06       Impact factor: 6.568

9.  RET is constitutively activated by novel tandem mutations that alter the active site resulting in multiple endocrine neoplasia type 2B.

Authors:  Aaron N Cranston; Cristiana Carniti; Kim Oakhill; Elzbieta Radzio-Andzelm; Eric A Stone; Andrew S McCallion; Shirley Hodgson; Sue Clarke; Piera Mondellini; Jean Leyland; Marco A Pierotti; Joanne Whittaker; Susan S Taylor; Italia Bongarzone; Bruce A J Ponder
Journal:  Cancer Res       Date:  2006-10-15       Impact factor: 12.701

10.  Two germline missense mutations at codons 804 and 806 of the RET proto-oncogene in the same allele in a patient with multiple endocrine neoplasia type 2B without codon 918 mutation.

Authors:  A Miyauchi; H Futami; N Hai; T Yokozawa; K Kuma; N Aoki; S Kosugi; K Sugano; K Yamaguchi
Journal:  Jpn J Cancer Res       Date:  1999-01
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  2 in total

1.  Static Prognostic Factors and Appropriate Surgical Designs for Patients with Medullary Thyroid Carcinoma: The Second Report from a Single-Institution Study in Japan.

Authors:  Yasuhiro Ito; Akira Miyauchi; Minoru Kihara; Takuya Higashiiyama; Mitsuhiro Fukushima; Akihiro Miya
Journal:  World J Surg       Date:  2018-12       Impact factor: 3.352

2.  The synergy of germline C634Y and V292M RET mutations in a northern Chinese family with multiple endocrine neoplasia type 2A.

Authors:  Zheng Yang; Xinmeng Qi; Neil Gross; Xiujuan Kou; Yunlong Bai; Yaru Feng; Bochun Wang; Mark E Zafereo; Guojun Li; Chuanzheng Sun; Huihui Li; Xiaohong Chen; Zhigang Huang
Journal:  J Cell Mol Med       Date:  2020-09-29       Impact factor: 5.295
  2 in total

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