|
Colorectal Carcinoma
|
|
0.900 |
CausalMutation
|
CLINVAR |
|
|
|
|
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 |
|
Colorectal Carcinoma
|
|
0.900 |
GeneticVariation
|
BEFREE |
V599E was observed in 12 of 19 (63%) polyps and 14 of 20 (70%) cancers (4 of 4 high MSI, 2 of 4 low MSI, and 8 of 12 stable MSI), a significant increase over HNPCC (0 of 15 or 0%), and unselected CRC (30 of 197 or 15.2%) ( P < .05).
|
15765445 |
2005 |
|
Colorectal Carcinoma
|
|
0.900 |
GeneticVariation
|
BEFREE |
The detection of a positive BRAF-V600E mutation in a colorectal cancer suggests a sporadic origin of the disease and the absence of germline alterations of MLH1, MSH2 and also of MSH6.
|
15782118 |
2005 |
|
Colorectal Carcinoma
|
|
0.900 |
GeneticVariation
|
BEFREE |
The current data showed instead that the BRAF V599E mut</span>ation was associated only with a subgroup of colorectal carcinomas with MSI that were obtained from older patients without hereditary nonpolyposis colorectal carcinoma and showed epigenetic silencing of hMLH1.
|
16015629 |
2005 |
|
Colorectal Carcinoma
|
|
0.900 |
GeneticVariation
|
UNIPROT |
ASCO 2006 update of recommendations for the use of tumor markers in gastrointestinal cancer.
|
17060676 |
2006 |
|
Colorectal Carcinoma
|
|
0.900 |
GeneticVariation
|
BEFREE |
B-RAF mutations, predominantly the specific V600E mutation and additional alterations in exons 11 and 15, were frequently detected in malignant melanomas, papillary thyroid tumors, and colorectal cancers with microsatellite instability (MSI).
|
16413100 |
2006 |
|
Colorectal Carcinoma
|
|
0.900 |
GeneticVariation
|
BEFREE |
Detection of BRAF V600E mutation in colorectal cancer: comparison of automatic sequencing and real-time chemistry methodology.
|
17065421 |
2006 |
|
Colorectal Carcinoma
|
|
0.900 |
GeneticVariation
|
BEFREE |
Somatic BRAF-V600E mutations in familial colorectal cancer.
|
17119056 |
2006 |
|
Colorectal Carcinoma
|
|
0.900 |
GeneticVariation
|
BEFREE |
The hot spot c. 1799 T>A, p.V600E gene mutation is very rarely involved in the tumorigenesis of CRC linked to Hereditary Nonpolyposis Colorectal Cancer (HNPCC).
|
17566669 |
2007 |
|
Colorectal Carcinoma
|
|
0.900 |
GeneticVariation
|
BEFREE |
Although biased by the fact that germline testing was not pursued beyond direct sequencing in many cases lacking a high clinical index of suspicion of HNPCC, BRAF V600E detection was therefore considered to be 100% specific and 48% sensitive in detecting sporadic MSI-H CRC amongst those cases showing loss of MLH1 protein expression, in a population of patients with MSI-H CRC and clinical features suggestive of HNPCC.
|
17453358 |
2007 |
|
Colorectal Carcinoma
|
|
0.900 |
GeneticVariation
|
BEFREE |
The reference tumor group contained 28 HNPCC with proven germ-line mutations or positive Amsterdam I criteria (median age, 37 years) and loss of MLH1 expression, 14 sporadic MSI-H CRC tumors with loss of MLH1 expression and BRAF V600E mutation (median age, 80.5 years), and 16 sporadic MSS CRC (median age, 76.5 years).
|
17545526 |
2007 |
|
Colorectal Carcinoma
|
|
0.900 |
GeneticVariation
|
BEFREE |
We conclude that a single endogenous BRAF(V600E) allele is sufficient to repress BIM and prevent death arising from growth factor withdrawal, and CRC cells with BRAF(V600E) mutations are addicted to the ERK1/2 pathway for repression of BIM and growth factor-independent survival.
|
18806830 |
2008 |
|
Colorectal Carcinoma
|
|
0.900 |
GeneticVariation
|
UNIPROT |
National Academy of Clinical Biochemistry laboratory medicine practice guidelines for use of tumor markers in testicular, prostate, colorectal, breast, and ovarian cancers.
|
19042984 |
2008 |
|
Colorectal Carcinoma
|
|
0.900 |
GeneticVariation
|
BEFREE |
The BRAF V600E mutation is associated with sporadic MSI-H colorectal cancers (CRCs) harboring hMLH1 methylation but not Lynch syndrome-related CRCs.
|
17942460 |
2008 |
|
Colorectal Carcinoma
|
|
0.900 |
GeneticVariation
|
BEFREE |
We analyzed sporadic CRCs in Omani (of African origin, N = 61), Iranian (of Caucasian origin, N = 53) and African American (N = 95) patients for microsatellite instability, expression status of mismatched repair genes (hMLH1, hMSH2) and presence of the BRAF (V600E) mutation.
|
18718023 |
2008 |
|
Colorectal Carcinoma
|
|
0.900 |
GeneticVariation
|
BEFREE |
Ethnicity and risk for colorectal cancers showing somatic BRAF V600E mutation or CpG island methylator phenotype.
|
18628431 |
2008 |
|
Colorectal Carcinoma
|
|
0.900 |
GeneticVariation
|
BEFREE |
Detection of the V600E hotspot mutation in BRAF oncogene is extremely useful for the screening of hereditary non-polyposis colorectal cancer (Lynch's syndrome) and for the prediction of sensitivity to MEK inhibitors.
|
18428050 |
2008 |
|
Colorectal Carcinoma
|
|
0.900 |
GeneticVariation
|
BEFREE |
We show MCC expression is dramatically decreased in many CRC cell lines and the distinct subset of sporadic CRC characterized by the CpG island methylator phenotype and BRAF(V600E) mutation due to promoter methylation as reported previously.
|
18591935 |
2008 |
|
Colorectal Carcinoma
|
|
0.900 |
GeneticVariation
|
BEFREE |
Double-hit therapies aimed at simultaneous inhibition of epidermal growth factor receptor and BRAF warrant exploration in CR</span>C patients carrying the V600E oncogenic mutation.
|
19001320 |
2008 |
|
Colorectal Carcinoma
|
|
0.900 |
GeneticVariation
|
BEFREE |
In addition, the combination of microsatellite instability testing, MLH1 promoter methylation analysis, and BRAF (V600E) mutation analysis can distinguish a sporadic colorectal cancer from one associated with HNPCC, helping to avoid costly molecular genetic testing for germline mutations in mismatch repair genes.
|
18556776 |
2008 |
|
Colorectal Carcinoma
|
|
0.900 |
GeneticVariation
|
BEFREE |
Suppression of BRAF in BRAF V600E MSI CRC cell lines by RNA interference significantly inhibited proliferation and induced apoptosis, as demonstrated by BrdU incorporation and TUNEL assay, respectively.
|
18098337 |
2008 |
|
Colorectal Carcinoma
|
|
0.900 |
GeneticVariation
|
BEFREE |
BRAF V600E mutation was analyzed in CRC patients with MMR deficiencies (microsatellite instability and/or lack of MLH1/MSH2 protein expression) in the EPICOLON population-based study.
|
18096441 |
2008 |
|
Colorectal Carcinoma
|
|
0.900 |
GeneticVariation
|
BEFREE |
In advanced CRCs, KRAS mutations occurred in 48% of cases (64% codons 12/13, 36% other codons) and BRAF mutations in 10% (66% V600E, 33% exon 11).
|
19474002 |
2009 |
|
Colorectal Carcinoma
|
|
0.900 |
GeneticVariation
|
BEFREE |
BRAF V600E is the predominantly occurring mutation of the cytoplasmic kinase BRAF, and, in colorectal cancer, its determination provides a diagnostic exclusion criterion for hereditary nonpolyposis colorectal cancer.
|
19213871 |
2009 |