rs121913483
|
|
Carcinoma
|
|
0.740 |
GeneticVariation
|
BEFREE |
The S249C mutation is the only FGFR3 mutation described to date in cervical carcinomas.
|
11114733 |
2000 |
rs121913483
|
|
Carcinoma
|
|
0.740 |
GeneticVariation
|
BEFREE |
Fibroblast growth factor receptor 3 (FGFR3) - analyses of the S249C mutation and protein expression in primary cervical carcinomas.
|
11904459 |
2001 |
rs121913483
|
|
Carcinoma
|
|
0.740 |
GeneticVariation
|
BEFREE |
This study confirms the low frequency of the FGFR3 S249C mutation in CC.
|
11605053 |
2001 |
rs121913483
|
|
Carcinoma
|
|
0.740 |
GeneticVariation
|
BEFREE |
Using single strand conformation polymorphism (SSCP) followed by DNA sequencing, we found FGFR3 mutation (S249C in all cases) in 5% of invasive cervical carcinomas and no mutation in intraepithelial lesions.
|
15869706 |
2005 |
rs78311289
|
|
Carcinoma
|
|
0.710 |
GeneticVariation
|
BEFREE |
Mutation of Lys650-->Glu in the activation loop of the FGFR3 kinase domain causes the lethal human skeletal disorder thanatophoric dysplasia type II (TDII) and is also found in patients with multiple myeloma, bladder and cervical carcinomas.
|
10918587 |
2000 |
rs121913377
|
|
Carcinoma
|
|
0.100 |
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 |
rs121913377
|
|
Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
The vast majority of the BRAF V600E mutations were found in cerebral metastases of malignant melanomas and carcinomas (29/135, 22 %), with false-positive staining found in four breast cancer cases and two non-small-cell lung carcinoma (NSCLC) samples.
|
27350555 |
2016 |
rs121913377
|
|
Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
Congruently, 0/10 oncoAd and 0/20 oncoFTC described in the literature so far carried BRAF V600E mutations.
|
18235983 |
2008 |
rs121913377
|
|
Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
To determine the association of DNA mismatch repair (MMR) status and somatic mutation in the B-Raf proto-oncogene (c.1799T>A [V600E]; BRAFV600E) or exon 2 of the KRAS proto-oncogene (KRAS) in the primary tumor with SAR in patients with stage III colon carcinomas treated with adjuvant chemotherapy.
|
28006055 |
2017 |
rs121913377
|
|
Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
The missense point mutation BRAF(V600E) was identified in 42% (13/31 cases) of papillary carcinomas and 33% (5/15 cases) of undifferentiated carcinomas but not in normal thyroid tissues, nodular hyperplasia, follicular adenomas, or follicular carcinomas.
|
17714762 |
2007 |
rs121913377
|
|
Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
The BRAF V600E mutation was detected in 36.3% of SCa and 26.7% of TSA patients, but it was not detected in TA and Ca patients; MSI-H was noticed in 23% of SCa, 33.3% of TSA, 5.3% of Ca and 0% of TA patients, respectively (P<0.05).
|
21615873 |
2011 |
rs121913377
|
|
Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
The high frequency of methylation and BRAF V600E mutation suggests that many signet ring cell carcinomas may be related to the serrated pathway of carcinogenesis.
|
22522845 |
2012 |
rs121913377
|
|
Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
We found BRAF V600E mutations in 13% (4/31) of serous LMP and 5% (3/62) of invasive serous carcinomas.
|
22820660 |
2013 |
rs121913377
|
|
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 |
rs121913377
|
|
Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
BRAF V599E mutation in histologic samples was found in 5 (24%) of 21 SBTs, 1 (33%) of 3 MPSCs, 1 (17%) of 6 endometrioid carcinomas, but not detected in 42 conventional serous carcinomas, 12 mucinous borderline tumors, 10 mucinous, and 10 clear-cell carcinomas.
|
17309670 |
2007 |
rs121913377
|
|
Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
Although VE1 antibody can be useful in the screening of colon carcinomas for BRAF V600E-mutant proteins, molecular genetic confirmation is always necessary for mutation diagnosis.
|
24832158 |
2014 |
rs121913377
|
|
Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
LLS carcinomas were diagnosed at a mean age of 65 years (vs. 44 years in LS, p < 0.001), had a proximal to distal ratio of 1:1, and all were BRAF V600E-negative.
|
30575961 |
2019 |
rs121913377
|
|
Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
BRAF inhibitors showed activity in BRAF V600E mutated cholangiocarcinomas and pancreatic carcinomas in non-first line settings.
|
31221175 |
2019 |
rs121913377
|
|
Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
Genotype-dependent cooperation of ionizing radiation with BRAF inhibition in BRAF V600E-mutated carcinomas.
|
23354848 |
2013 |
rs121913377
|
|
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 |
rs121913377
|
|
Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
In contrast to other Braf-induced mouse models of tumorigenesis (i.e., melanomas and lung), in which knock-in of Braf(V600E) induces mostly benign lesions, Braf-expressing thyrocytes become transformed and progress to invasive carcinomas with a very short latency, a process that is dampened by treatment with an allosteric MEK inhibitor.
|
21220306 |
2011 |
rs121913377
|
|
Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
The development of BRAF(V600E)transgenic mice with the MST1 knockout background showed that these mice had abundant foci of poorly differentiated carcinomas and large areas without follicular architecture or colloid formation.
|
21249150 |
2011 |
rs121913377
|
|
Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
We analyzed 29 gallbladder carcinomas (9 papillary and 20 nonpapillary adenocarcinomas), 16 adenomas (6 pyloric, 3 intestinal, 3 biliary, 3 mixed pyloric-biliary, and 1 mixed pyloric-intestinal), and 5 cases of high-grade dysplasia for activating missense mutations in KRAS codons 12 and 13 and BRAF V600E mutations.
|
21307665 |
2011 |
rs121913377
|
|
Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
Importantly, expression of BRAF(V600E) concomitant with the loss of only a single-copy of Lkb1, overcomes senencence-like features of BRAF(V600E)-mutant adenomas leading malignization to carcinomas.
|
23825589 |
2013 |
rs121913377
|
|
Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
BRAF V600E mutation in anaplastic thyroid carcinomas and their accompanying differentiated carcinomas.
|
17453004 |
2007 |