title: A 3-bp Deletion VK600-1E in the BRAF Gene Detected in a Young Woman with Papillary Thyroid Carcinoma.
abstract: 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.
authors.affiliation: Department of Molecular Endocrinology, Institute of Endocrinology, Narodni 8, 11694, Prague 1, Czech Republic. sdvorakova@endo.cz.
authors.forename: S
authors.initials: S
authors.lastname: Dvorakova
authors.affiliation: Department of Molecular Endocrinology, Institute of Endocrinology, Narodni 8, 11694, Prague 1, Czech Republic.
authors.forename: V
authors.initials: V
authors.lastname: Sykorova
authors.affiliation: Department of Molecular Endocrinology, Institute of Endocrinology, Narodni 8, 11694, Prague 1, Czech Republic.
authors.forename: E
authors.initials: E
authors.lastname: Vaclavikova
authors.affiliation: Department of Nuclear Medicine and Endocrinology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, V Uvalu 84, 15006, Prague 5, Czech Republic.
authors.forename: P
authors.initials: P
authors.lastname: Sykorova
authors.affiliation: Department of Nuclear Medicine and Endocrinology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, V Uvalu 84, 15006, Prague 5, Czech Republic.
authors.forename: P
authors.initials: P
authors.lastname: Vlcek
authors.affiliation: Department of Pathology and Molecular Medicine, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, V Uvalu 84, 15006, Prague 5, Czech Republic.
authors.forename: D
authors.initials: D
authors.lastname: Kodetova
authors.affiliation: Department of Otorhinolaryngology and Head and Neck Surgery, 1st Faculty of Medicine, Charles University in Prague and Motol University Hospital, V Uvalu 84, 15006, Prague 5, Czech Republic.
authors.forename: P
authors.initials: P
authors.lastname: Lastuvka
authors.affiliation: Department of Otorhinolaryngology and Head and Neck Surgery, 1st Faculty of Medicine, Charles University in Prague and Motol University Hospital, V Uvalu 84, 15006, Prague 5, Czech Republic.
authors.forename: J
authors.initials: J
authors.lastname: Betka
authors.affiliation: Department of Molecular Endocrinology, Institute of Endocrinology, Narodni 8, 11694, Prague 1, Czech Republic.
authors.forename: M
authors.initials: M
authors.lastname: Mokrejs
authors.affiliation: Department of Molecular Endocrinology, Institute of Endocrinology, Narodni 8, 11694, Prague 1, Czech Republic.
authors.forename: J
authors.initials: J
authors.lastname: Vcelak
authors.affiliation: Department of Molecular Endocrinology, Institute of Endocrinology, Narodni 8, 11694, Prague 1, Czech Republic.
authors.forename: B
authors.initials: B
authors.lastname: Bendlova
mesh_terms: D000328:Adult; D002277:Carcinoma / Q000235:genetics*; D002291:Carcinoma, Papillary; D018153:Czech Republic; D005260:Female; D006801:Humans; D000090063:Proto-Oncogene Mas; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*; D017384:Sequence Deletion; D000077273:Thyroid Cancer, Papillary; D013964:Thyroid Neoplasms / Q000235:genetics*
chemical_list: C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf
keywords: BRAF gene; Deletion; Papillary thyroid cancer; Rare mutation