|
rs113488022
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
These resu</span>lts suggest that BRAF(V599E) mutation is frequent in the etiopathogenesis of PTC.
|
12881714 |
2003 |
|
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Clinical implication of hot spot BRAF mutation, V599E, in papillary thyroid cancers.
|
12970315 |
2003 |
|
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
BRAF(V599E) mutations were unique to PTCs, and not found in any of the other types of differentiated follicular neoplasms arising from the same cell type (0 of 46).
|
12670889 |
2003 |
|
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
In conclusion, the present study on the first Italian series of thyroid cancers shows a frequency of 38.3% of BRAF(V599E) in the classical variant of PTC, confirming the key role of this mutation in promoting tumourigenesis.
|
15272920 |
2004 |
|
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The V599E mutation is highly prevalent in PTC with a papillary or mixed papillary follicular growth pattern, and the K600E mutation is apparently restricted to the follicular variant of PTC.
|
15095090 |
2004 |
|
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The BRAF missense mutation at V599E was found in 58 of 70 PTCs (83%).
|
15515191 |
2004 |
|
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We found a high rate of V559E mutations in papillary thyroid carcinomas (47%), one V599E mutation in a well-differentiated gastric endocrine carcinoma (malignant carcinoid), but no activating BRAF mutations in all other endocrine tumors examined.
|
15613458 |
2004 |
|
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
These data clearly confirm that BRAF(V599E) is the more common genetic alteration found to date in adult sporadic PTCs, that it is unique for this thyroid cancer histotype, and that it might drive the development of PTCs of the classic papillary subtype.
|
15126572 |
2004 |
|
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We have also analyzed 17 sporadic cases of childhood PTC and found that only one (6%) harbored the BRAF V600E mutation.
|
15356020 |
2004 |
|
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The BRAF mutation (V599E) was detected in 38% of the samples that were PTC on histopathology; RET/PTC was found in 18% of the PTC cases.
|
15472223 |
2004 |
|
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
BRAF(V599E) was also detected in 6 of 11 cases of the oncocytic variant of PTC that displayed a papillary or mixed follicular-papillary growth pattern and in none of the four oncocytic PTCs with a follicular growth pattern.
|
14743508 |
2004 |
|
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The analysis of exons 11 and 15 of BRAF gene revealed the T1796A (V599E) mutation in 32% of cases, and this alteration is significantly associated with PTC tall cell variant.
|
15273715 |
2004 |
|
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
As the somatic T1799A BRAF mutation is highly prevalent in papillary thyroid cancer, the aim was to test whether this mutation was a susceptibility mutation for FNMTC.
|
16117812 |
2005 |
|
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The BRAF(V600E) mutation, the most common genetic alteration reported in papillary thyroid carcinoma, has been associated with poor prognostic factors.
|
16268813 |
2005 |
|
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Activating point mutation of the BRAF gene resulting in V600E (previously designated as V599E) is a common event in thyroid papillary carcinoma, being found in approx 40% of this tumor.
|
16299399 |
2005 |
|
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Moreover, there is a close association between the type of mutation and the PTC histotype: BRAF(V600E) is associated with conventional PTC and with histological variants of PTC displaying a prominent papillary growth pattern, whereas BRAF(K601E) is associated with the follicular variant of PTC.
|
16021577 |
2005 |
|
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Genetic analysis of both tumour components showed a distinctive mutational pattern: in the MTC a Cys634Arg substitution in exon 11 of the RET gene and in the two PTC foci a Val600Glu substitution in exon 15 of the BRAF gene.
|
15947103 |
2005 |
|
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
58% PTCs presented a genetic alteration either RET/PTC rearrangement, BRAF V599E mutation or both: three cases of PTCs (25%) presented a RET/PTC rearrangement; three cases of PTCs (25%) presented a BRAF V599E mutation and in one case (8%) both alterations were identified.
|
15859312 |
2005 |
|
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The role of the T1799A BRAF mutation in lymph node metastasis of papillary thyroid cancer (PTC) is not clear.
|
15998781 |
2005 |
|
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Incorporating the use of the recently identified BRAF V600E point mutation, a highly specific biomarker for papillary carcinoma of the thyroid, may provide a useful adjunct in assessing the biologic nature of morphologically bland-appearing thyroid inclusions in cervical lymph nodes.
|
17159251 |
2006 |
|
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Three (60%) of 5 PTCs and 1 out of 17 benign lesions had BRAF(V600E</span>) mutation (only one false positive case and the definitive pathology showed atypical nodular hyperplasia that could be a premalignant lesion).
|
17054470 |
2006 |
|
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The objective of the study was to investigate the effects of the BRAF V600E mutation on expression of galectin-3, cyclooxygenase-2, cyclin D1, p53, and vascular endothelial growth factor (VEGF) in papillary thyroid cancer (PTC).
|
16772349 |
2006 |
|
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Although the BRAF(V600E) mutation was found to be associated with a higher clinical recurrence of disease in low-risk conventional PTC patients, it was not an independent predictor.
|
16918957 |
2006 |
|
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Analysis of differential BRAF(V600E) mutational status in multifocal papillary thyroid carcinoma: evidence of independent clonal origin in distinct tumor foci.
|
16983703 |
2006 |