Screening of six risk exons of the RET proto-oncogene in families with medullary thyroid carcinoma in the Czech Republic
Jazyk angličtina Země Velká Británie, Anglie Médium print
Typ dokumentu časopisecké články, práce podpořená grantem
PubMed
15531714
DOI
10.1677/joe.1.05838
PII: 183/2/257
Knihovny.cz E-zdroje
- MeSH
- dominantní geny MeSH
- dospělí MeSH
- exony MeSH
- genetické testování MeSH
- kohortové studie MeSH
- lidé středního věku MeSH
- lidé MeSH
- medulární karcinom genetika MeSH
- mladiství MeSH
- mnohočetná endokrinní neoplazie typ 2B genetika MeSH
- nádory štítné žlázy genetika MeSH
- onkogenní proteiny genetika MeSH
- polymerázová řetězová reakce metody MeSH
- protoonkogen Mas MeSH
- protoonkogenní proteiny c-ret MeSH
- tyrosinkinasové receptory genetika MeSH
- zárodečné mutace MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Geografické názvy
- Česká republika MeSH
- Názvy látek
- MAS1 protein, human MeSH Prohlížeč
- onkogenní proteiny MeSH
- protoonkogen Mas MeSH
- protoonkogenní proteiny c-ret MeSH
- RET protein, human MeSH Prohlížeč
- tyrosinkinasové receptory MeSH
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.
Citace poskytuje Crossref.org
RET mutation Tyr791Phe: the genetic cause of different diseases derived from neural crest