Exon 5 of the RET proto-oncogene: a newly detected risk exon for familial medullary thyroid carcinoma, a novel germ-line mutation Gly321Arg
Jazyk angličtina Země Itálie Médium print
Typ dokumentu časopisecké články, práce podpořená grantem
PubMed
16419493
DOI
10.1007/bf03345322
PII: 2602
Knihovny.cz E-zdroje
- MeSH
- arginin analýza MeSH
- bodová mutace MeSH
- DNA nádorová analýza genetika MeSH
- dospělí MeSH
- exony * MeSH
- genetické testování MeSH
- glycin analýza MeSH
- kodon genetika MeSH
- lidé středního věku MeSH
- lidé MeSH
- medulární karcinom diagnóza genetika chirurgie MeSH
- missense mutace MeSH
- nádory štítné žlázy diagnóza genetika chirurgie MeSH
- protoonkogen Mas MeSH
- protoonkogenní proteiny c-ret genetika MeSH
- protoonkogeny * MeSH
- rodokmen MeSH
- senioři MeSH
- tyreoidektomie MeSH
- zárodečné mutace * MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Názvy látek
- arginin MeSH
- DNA nádorová MeSH
- glycin MeSH
- kodon MeSH
- MAS1 protein, human MeSH Prohlížeč
- protoonkogen Mas MeSH
- protoonkogenní proteiny c-ret MeSH
- RET protein, human MeSH Prohlížeč
Familial medullary thyroid carcinoma (FMTC) is an autosomal dominant inherited disease, characterized by germ-line mutations in the RET proto-oncogene, mainly in exons 10 and 11, but also in exons 13, 14 and 15. Recently, mutations in exons 8 and 16 associated with FMTC were also described. In the herein presented study, single strand conformation polymorphism (SSCP) method for rapid screening of mutations in the RET proto-oncogene and fluorescent sequencing method were used. In one Czech family with FMTC, we have identified a novel missense point mutation of the RET proto-oncogene in exon 5, that results in substitution of arginine by glycine at codon 321 in the cadherin-like domain of ret protein. It seems that this mutation causes FMTC as no other mutation was found in the classical risk exons (10, 11, 13, 14, 15 and 16) of the RET proto-oncogene. The mutation cosegregates with medullary thyroid carcinoma (MTC) or C cell hyperplasia (CCH) in two patients; two other family members are mutation carriers without clinical signs of MTC so far. To improve the diagnosis of FMTC, analysis of exon 5 of the RET proto-oncogene should be considered in families with no identified classical RET mutations.
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