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BRAF mutational analysis was performed on thyroid nodules with an FNA diagnosis of AUS/FLUS and followed by RAS (NRAS codons 12, 13, and 61, HRAS codons 12, 13, and 61, and KRAS codons 12, 13, and 61) mutational analysis when BRAF mutation was negative.
The age at onset of thyroid cancer in two Japanese CNC patients was 72 and 73 years old, in whom PRKAR1A mutation was negative in one and not available in the other.
Transferrin saturation was within the reference range and the HFE gene mutation was negative.
JAK2 mutation was negative.
MYD-88 L265P mutation was negative in all of the 45 studied cases.
The genetic test for multiple endocrine neoplasia type 1 syndrome mutation was negative.
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Genetic screening for protein C or S deficiency, antiphospholipid and anticardiolipin antibodies and G20210A prothrombin mutation were negative and JAK2V617F mutation was not studied in these patients [ 25].
However, in diseases for which CNMs are rare, their search is important for diagnostic confirmation if screening for point mutation is negative or incompletely conclusive.
Immunostaining of glioblastomas revealed binding in the case with the type III EGFR mutation, the five other specimens without the mutation being negative despite overexpression of EGFR in some cases.
At this time, DNA analysis for the HLBX9 gene mutations was negative.
A group of 39 patients aged under 36 years and for whom the search for Brca1 gene mutations was negative, and a group of 36 cases of sporadic cancers without data on their Brca status were used as controls.
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