Hirschsprung’s disease and medullary thyroid carcinoma: 15-year experience with molecular genetic screening of the RET proto-oncogene

2011 ◽  
Vol 28 (2) ◽  
pp. 123-128 ◽  
Author(s):  
Eliska Vaclavikova ◽  
Lucie Kavalcova ◽  
Richard Skaba ◽  
Sarka Dvorakova ◽  
Pavla Macokova ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Genetic Screening ◽  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Molecular Genetic ◽  
Medullary Thyroid

scholarly journals An Extended Family with Familial Medullary Thyroid Carcinoma and Hirschsprung's Disease

2014 ◽  
Vol 81 (2) ◽  
pp. 64-69 ◽  
Author(s):  
Takehito Igarashi ◽  
Ritsuko Okamura ◽  
Tomoo Jikuzono ◽  
Shinya Uchino ◽  
Iwao Sugitani ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Extended Family ◽  
Medullary Thyroid ◽  
Familial Medullary Thyroid Carcinoma

A novel Czech kindred with familial medullary thyroid carcinoma and Hirschsprung's disease

2005 ◽  
Vol 40 (6) ◽  
pp. e1-e6 ◽  
Author(s):  
Šárka Dvořáková ◽  
Kateřina Dvořáková ◽  
Marcela Malíková ◽  
Richard Škába ◽  
Petr Vlček ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Medullary Thyroid ◽  
Familial Medullary Thyroid Carcinoma

Increased incidence of medullary thyroid carcinoma in patients treated for Hirschsprung's disease

2005 ◽  
Vol 40 (10) ◽  
pp. 1532-1534 ◽  
Author(s):  
Mikko P. Pakarinen ◽  
Risto J. Rintala ◽  
Antti Koivusalo ◽  
Marja Heikkinen ◽  
Harry Lindahl ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Medullary Thyroid

The risk of medullary thyroid carcinoma in patients with Hirschsprung's disease

2006 ◽  
Vol 22 (12) ◽  
pp. 991-995 ◽  
Author(s):  
Richard Škába ◽  
Šárka Dvořáková ◽  
Eliška Václavíková ◽  
Petr Vlček ◽  
Miroslava Frantlová ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Medullary Thyroid

scholarly journals Cys611Ser mutation in RET proto-oncogene in a kindred with medullary thyroid carcinoma and Hirschsprung's disease

2003 ◽  
Vol 11 (5) ◽  
pp. 364-368 ◽  
Author(s):  
Mikiko Nishikawa ◽  
Yoshiki Murakumo ◽  
Tsuneo Imai ◽  
Kumi Kawai ◽  
Masahiro Nagaya ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Medullary Thyroid

scholarly journals Screening of six risk exons of the RET proto-oncogene in families with medullary thyroid carcinoma in the Czech Republic

2004 ◽  
Vol 183 (2) ◽  
pp. 257-265 ◽  
Author(s):  
Š Jindřichová ◽  
J Včelák ◽  
P Vlček ◽  
M Neradilová ◽  
J Němec ◽  
...  
Keyword(s):  
Czech Republic ◽  
Genetic Testing ◽  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Germ Line ◽  
Molecular Genetic ◽  
The Czech Republic ◽  
Medullary Thyroid ◽  
Germ Line Mutations ◽  
Exon 11

Medullary thyroid carcinoma (MTC) occurs as a sporadic form (75%) or as an autosomal dominant inherited familial disorder (25%) called familial MTC (FMTC) or as multiple endocrine neoplasia type 2 (MEN2) syndromes. Germ-line mutations in the rearranged during transfection (RET) proto-oncogene in exons 10, 11, 13, 14, 15 and 16 are known to be a cause of most of the familial forms. In this paper we report molecular genetic testing of 106 families with MTC (358 tested persons) from the Czech Republic in which we directly sequenced these six exons of the RET proto-oncogene. We detected germ-line mutations in 100% of MEN2B families (4/4 families), 90% of MEN2A families (9/10), 40% of FMTC families (4/10) and 7% of apparently sporadic MTC (6/82). Eleven different germ-line mutations were revealed. MEN2B was associated with mutation Met918 Thr in exon 16. In one MEN2B family beside this mutation the Tyr791 Phe was also found, which has not yet been reported. MEN2A was restricted to different mutations in exon 11 (codon 634). In FMTC and ‘sporadic’ MTC families the mutations in exons 10, 11, 13 and 14 were detected. The genotype/phenotype correlations are given. Genetic testing revealed germ-line mutations in 23 index patients, 24 family members and excluded them in 53 relatives.

Application of genetic screening in families with hereditary medullary thyroid carcinoma*

2009 ◽  
Vol 104 (S 04) ◽  
pp. 108-110 ◽  
Author(s):  
K. Frank-Raue ◽  
W. Höppner ◽  
H. Buhr ◽  
Ch. Herfarth ◽  
R. Ziegler ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Genetic Screening ◽  
Medullary Thyroid ◽  
Hereditary Medullary Thyroid Carcinoma
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