|
rs113488022
|
|
Neoplasm Metastasis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Thirty-three samples (7 of 25 primaries, 15 of 25 regional metastases, 5 of 25 nodal metastases, and 6 of 10 distant metastases) harbored the V599E B-RAF mutation (39%), 12 contained a Q61R N-RAS mutation and 5 a Q61K N-RAS mutation.
|
14695143 |
2003 |
|
rs113488022
|
|
Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
BRAF mutations were detected exclusively in papillary carcinomas (40 in 76 cases: 53%), and were exclusively V599E, a mutation frequently observed in other carcinomas.
|
14508525 |
2003 |
|
rs113488022
|
|
Neoplasm Metastasis
|
|
0.100 |
GeneticVariation
|
BEFREE |
We observed mutations resulting in the V599E amino-acid substitution in 41 of 60 (68%) melanoma metastases, 4 of 5 (80%) primary melanomas and, unexpectedly, in 63 of 77 (82%) nevi.
|
12447372 |
2003 |
|
rs113488022
|
|
Carcinogenesis
|
|
0.100 |
GeneticVariation
|
BEFREE |
These results suggest that the B-Raf activation segment mutations other than V599E reported in colorectal tumors do not necessarily contribute to carcinogenesis by increasing kinase and transforming activities.
|
14678966 |
2003 |
|
rs113488022
|
|
Undifferentiated carcinoma
|
|
0.060 |
GeneticVariation
|
BEFREE |
A missense mutation was found at T1796A (V599E) in exon 15 in four of the six cell lines and 51 of 207 thyroid tumors (24.6%; 0 of 20 follicular adenoma, 0 of 11 follicular carcinoma, 49 of 170 papillary carcinomas, and 2 of 6 undifferentiated carcinomas).
|
12970315 |
2003 |
|
rs113488022
|
|
Follicular adenoma
|
|
0.060 |
GeneticVariation
|
BEFREE |
A missense mutation was found at T1796A (V599E) in exon 15 in four of the six cell lines and 51 of 207 thyroid tumors (24.6%; 0 of 20 follicular adenoma, 0 of 11 follicular carcinoma, 49 of 170 papillary carcinomas, and 2 of 6 undifferentiated carcinomas).
|
12970315 |
2003 |
|
rs113488022
|
|
Thyroid Gland Follicular Adenoma
|
|
0.030 |
GeneticVariation
|
BEFREE |
A missense mutation was found at T1796A (V599E) in exon 15 in four of the six cell lines and 51 of 207 thyroid tumors (24.6%; 0 of 20 follicular adenoma, 0 of 11 follicular carcinoma, 49 of 170 papillary carcinomas, and 2 of 6 undifferentiated carcinomas).
|
12970315 |
2003 |
|
rs113488022
|
|
Malignant neoplasm of pancreas
|
|
0.020 |
GeneticVariation
|
BEFREE |
The BRAF V599E mutation was not found to be a major mutation in pancreatic cancers that had no K-ras codon 12 mutation.
|
12969789 |
2003 |
|
rs113488022
|
|
Nodular Goiter
|
|
0.010 |
GeneticVariation
|
BEFREE |
BRAF(V599E) mutation was not detected in any of 23 nodular goiters, 51 follicular adenomas and 18 follicular carcinomas.
|
12881714 |
2003 |
|
rs113488022
|
|
Adult Fibrosarcoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Similar targeting of BRAF(V599E) or wild-type BRAF in human fibrosarcoma cells that lack the BRAF(V599E) mutation does not recapitulate these effects.
|
14500344 |
2003 |
|
rs113488022
|
|
Precancerous Conditions
|
|
0.010 |
GeneticVariation
|
BEFREE |
Mutations in the BRAF gene causing a V599E amino acid substitution that enhance the kinase activity have been described in >60% of cutaneous melanomas and premalignant melanocytic lesions.
|
14522889 |
2003 |
|
rs113488022
|
|
Hereditary Melanoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
We therefore conclude that the common somatic BRAF mutation V599E does not contribute to polygenic and familial melanoma predisposition.
|
12794760 |
2003 |
|
rs113488022
|
|
Familial (FPAH)
|
|
0.010 |
GeneticVariation
|
BEFREE |
We investigated the hypothesis that this common somatic BRAF mutation (V599E) would contribute to melanoma predisposition in familial and polygenic malignant melanoma if occurring as a germ-line mutation.
|
12794760 |
2003 |
|
rs113488022
|
|
Fibrosarcoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Similar targeting of BRAF(V599E) or wild-type BRAF in human fibrosarcoma cells that lack the BRAF(V599E) mutation does not recapitulate these effects.
|
14500344 |
2003 |
|
rs113488022
|
|
Colorectal Carcinoma
|
|
0.900 |
GeneticVariation
|
BEFREE |
BRAF-V600E mutations were analysed by automatic sequencing in colorectal cancers from 206 sporadic cases with MSI-H and 111 HNPCC cases with known germline mutations in MLH1 and MSH2.
|
15342696 |
2004 |
|
rs113488022
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
With respect to the B-raf protein sequence, the V599E mutation was predicted in 63% of these positive melanomas, followed in frequency by the V599K transition (31%).
|
15331929 |
2004 |
|
rs113488022
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
To identify such contributing factors, we used microarray gene expression profiling to screen for differences in gene expression between a panel of melanocytic and melanoma cell lines with WT BRAF and a group of melanoma cell lines with the V599E BRAF mutation.
|
15313890 |
2004 |
|
rs113488022
|
|
Papillary thyroid carcinoma
|
|
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
|
|
Papillary thyroid carcinoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
The BRAF missense mutation at V599E was found in 58 of 70 PTCs (83%).
|
15515191 |
2004 |
|
rs113488022
|
|
Papillary thyroid carcinoma
|
|
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
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
With regard to the frequency of V599E BRAF mutations, AM significantly differs from CM (P < or = .0001), which suggests that BRAF mutations distinguish anorectal from cutaneous melanoma at the molecular level.
|
15578519 |
2004 |
|
rs113488022
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
Interestingly, the mutated BRAF (V599E)-specific siRNA inhibited the growth and MAPK activity of only melanoma cell lines with this mutation.
|
15208655 |
2004 |
|
rs113488022
|
|
Cutaneous Melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
The purpose of this study was to determine whether the T1799A BRAF mutation found in cutaneous melanoma is also present in conjunctival melanoma.
|
15277467 |
2004 |
|
rs113488022
|
|
Papillary thyroid carcinoma
|
|
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
|
|
Cutaneous Melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
The most common mutation, occurring in 80% of cutaneous melanoma samples, is a T-to-A transition resulting in a single amino acid substitution (V599E).
|
15179189 |
2004 |