|
rs113488022
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
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 |
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) 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 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 |
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 |
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 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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
BRAF(V600E) is present in PTC, both in the classic form and in follicular variant with similar prevalence.
|
16452550 |
2006 |
|
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Activating mutations of the BRAF gene are the most common genetic alterations in papillary thyroid carcinomas (PTCs) and the T1799A transversion, resulting in BRAFV600E, appeared virtually unique in this cancer type.
|
16501605 |
2006 |
|
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We have concluded that BRAF(V600E) is a new prognostic factor in PTC that correlates with a high risk of recurrences and less differentiated tumours due to the loss of NIS-mediated (131)I uptake.
|
16601293 |
2006 |
|
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The B-Raf gene was mutated with a T-->A transversion at nucleotide 1799 (V600E) in 8 of 10 differentiated PTC, and in 4 of 7 aggressive carcinomas.
|
16676402 |
2006 |
|
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
In conclusion, the present study reports the prevalence of B-RAF (V600E) (38%) in the largest series of sporadic PTCs, including 260 cases from three different Italian referring centers.
|
16728573 |
2006 |