|
rs113488022
|
|
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 |
|
rs113488022
|
|
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 |
|
rs113488022
|
|
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 |
|
rs113488022
|
|
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 |
|
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
|
|
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 |
|
rs113488022
|
|
Papillary thyroid carcinoma
|
|
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
|
|
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 |
|
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
|
|
Papillary thyroid carcinoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
These resu</span>lts suggest that BRAF(V599E) mutation is frequent in the etiopathogenesis of PTC.
|
12881714 |
2003 |
|
rs113488022
|
|
Neoplasms
|
|
0.800 |
GeneticVariation
|
BEFREE |
BRAF(V599E) mutation did not coexist with alterations in any of the RAS genes in any of the tumors.
|
12881714 |
2003 |
|
rs113488022
|
|
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 |
|
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
|
|
Cutaneous Melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
The activating V599E mutation accounted for 80% of all mutations detected in cutaneous melanoma cell lines.
|
12917419 |
2003 |
|
rs113488022
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
The activating V599E mutation accounted for 80% of all mutations detected in cutaneous melanoma cell lines.
|
12917419 |
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
|
|
Papillary thyroid carcinoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
Clinical implication of hot spot BRAF mutation, V599E, in papillary thyroid cancers.
|
12970315 |
2003 |
|
rs113488022
|
|
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 |
|
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
|
|
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 |
|
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
|
|
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 |