Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
The prevalence of the BRAF(V599E) mutation in PTC is the highest reported to date in human carcinomas, being only exceeded by melanoma.
|
12881714 |
2003 |
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 |
Cutaneous Melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
The activating V599E mutation accounted for 80% of all mutations detected in cutaneous melanoma cell lines.
|
12917419 |
2003 |
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
The activating V599E mutation accounted for 80% of all mutations detected in cutaneous melanoma cell lines.
|
12917419 |
2003 |
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 |
Papillary thyroid carcinoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
Clinical implication of hot spot BRAF mutation, V599E, in papillary thyroid cancers.
|
12970315 |
2003 |
Thyroid Neoplasm
|
|
0.100 |
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 |
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 |
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 |
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 |
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
Thus, when present, BRAF(V599E) appears to be essential for melanoma cell viability and transformation and, therefore, represents an attractive therapeutic target in the majority of melanomas that harbor the mutation.
|
14500344 |
2003 |
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 |
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 |
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 |
Neoplasms
|
|
0.800 |
GeneticVariation
|
BEFREE |
Interestingly, the most common of BRAF mutation (V599E) has not been identified in tumors with K-ras mutations.
|
14513361 |
2003 |
melanoma
|
|
0.800 |
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 |
Neoplasm Metastasis
|
|
0.100 |
GeneticVariation
|
BEFREE |
None of the 30 metastases and 10 primary uveal melanomas tested expressed the V599E mutation.
|
14522889 |
2003 |
Secondary Neoplasm
|
|
0.100 |
GeneticVariation
|
BEFREE |
None of the 30 metastases and 10 primary uveal melanomas tested expressed the V599E mutation.
|
14522889 |
2003 |
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 |
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
The most common mutation in CM was V599E, but a novel point mutation (L596Q) was identified in two cases and an in-frame deletion/insertion (VKSRWK599-604D) was discovered in one case.
|
14522897 |
2003 |
Cutaneous Melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
The most common mutation in CM was V599E, but a novel point mutation (L596Q) was identified in two cases and an in-frame deletion/insertion (VKSRWK599-604D) was discovered in one case.
|
14522897 |
2003 |
Multiple Myeloma
|
|
0.770 |
GeneticVariation
|
BEFREE |
While no RASSF1A or BRAF mutation (V599E) was detected in any of the primary MM studied (n = 21), the latter was found in the U266 cell line.
|
14616967 |
2003 |
Colorectal Neoplasms
|
|
0.790 |
GeneticVariation
|
BEFREE |
In addition, a significant association between mismatch-repair (MMR) deficiency and the V599E mutation in colorectal tumors has been found.
|
14654916 |
2004 |
Colorectal Neoplasms
|
|
0.790 |
GeneticVariation
|
BEFREE |
Recently, a V599E hotspot mutation within the BRAF gene was reported in a high percentage of colorectal tumors and significantly associated to defective mismatch repair (MMR).
|
14668801 |
2003 |
Colonic Neoplasms
|
|
0.770 |
GeneticVariation
|
BEFREE |
Here, we examined the effect of colon tumor-associated B-Raf mutations within the kinase activation segment, including V599E, on extracellular signal-regulated kinase (Erk) and nuclear factor kappaB (NFkappaB) signaling, and on the transformation of NIH3T3 fibroblasts.
|
14678966 |
2003 |