A 3-bp Deletion VK600-1E in the BRAF Gene Detected in a Young Woman with Papillary Thyroid Carcinoma
Jazyk angličtina Země Spojené státy americké Médium print
Typ dokumentu kazuistiky, časopisecké články, práce podpořená grantem
PubMed
26231782
DOI
10.1007/s12022-015-9387-2
PII: 10.1007/s12022-015-9387-2
Knihovny.cz E-zdroje
- Klíčová slova
- BRAF gene, Deletion, Papillary thyroid cancer, Rare mutation,
- MeSH
- dospělí MeSH
- karcinom genetika MeSH
- lidé MeSH
- nádory štítné žlázy genetika MeSH
- papilární karcinom štítné žlázy MeSH
- papilární karcinom MeSH
- protoonkogen Mas MeSH
- protoonkogenní proteiny B-Raf genetika MeSH
- sekvenční delece MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- práce podpořená grantem MeSH
- Geografické názvy
- Česká republika MeSH
- Názvy látek
- BRAF protein, human MeSH Prohlížeč
- MAS1 protein, human MeSH Prohlížeč
- protoonkogen Mas MeSH
- protoonkogenní proteiny B-Raf MeSH
Papillary thyroid cancer (PTC) derived from follicular cells is a frequent thyroid tumor. The incidence of this type of malignancy is still growing worldwide. Several major genetic causes are recognized to cause PTC-mutations in the BRAF and RAS genes or rearrangements with the RET proto-oncogene. The most common genetic change found in PTC is a V600E mutation in the BRAF gene presented in 36-69 % of all PTC cases. For routine purposes, several methods were developed to selectively detect only this mutation. However, these methods miss other mutations in the BRAF gene located elsewhere. We focused on the analysis of the exon 15 of the BRAF gene by next-generation sequencing. Here we report a three nucleotide deletion VK600-1E in one patient and present this finding in the context of 13 previously described PTC cases with this deletion. Our patient is the second youngest one among the reported cases. Clinical features of PTC patients with VK600-1E are summarized. For the future, it is important to evaluate genotype-phenotype characteristics of patients with rare BRAF mutations and to follow up them for years.
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