|
melanoma
|
|
0.800 |
CausalMutation
|
CLINVAR |
Mutations of the BRAF gene in human cancer.
|
12068308 |
2002 |
|
Malignant Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
Furthermore, RAS function is not required for the growth of cancer cell lines with the V599E mutation.
|
12068308 |
2002 |
|
Primary malignant neoplasm
|
|
0.100 |
GeneticVariation
|
BEFREE |
Furthermore, RAS function is not required for the growth of cancer cell lines with the V599E mutation.
|
12068308 |
2002 |
|
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 |
|
melanoma
|
|
0.800 |
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 |
|
melanoma
|
|
0.800 |
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 |
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
In addition we have searched for exon 15 BRAF mutations in 24 samples of secondary melanoma from 22 cases of sporadic melanoma and detected the 1796T>A BRAF mutation which leads to a substitution of valine by glutamic acid at position 599 (V599E) in six samples.
|
12619120 |
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 |
|
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 |
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 |
CausalMutation
|
CLINVAR |
Determinants of BRAF mutations in primary melanomas.
|
14679157 |
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 |
|
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 |
|
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 |
|
Papillary thyroid carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
These resu</span>lts suggest that BRAF(V599E) mutation is frequent in the etiopathogenesis of PTC.
|
12881714 |
2003 |
|
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 |
|
Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
Interestingly, the most common of BRAF mutation (V599E) has not been identified in tumors with K-ras mutations.
|
14513361 |
2003 |
|
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 |
|
Neoplasm Metastasis
|
|
0.100 |
GeneticVariation
|
BEFREE |
None of the 30 metastases and 10 primary uveal melanomas tested expressed the V599E mutation.
|
14522889 |
2003 |
|
Papillary thyroid carcinoma
|
|
0.100 |
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 |
|
Cutaneous Melanoma
|
|
0.100 |
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 |
|
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 |
|
Secondary Neoplasm
|
|
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 |
|
Secondary Neoplasm
|
|
0.100 |
GeneticVariation
|
BEFREE |
None of the 30 metastases and 10 primary uveal melanomas tested expressed the V599E mutation.
|
14522889 |
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 |