|
rs113488022
|
|
|
0.100 |
GeneticVariation |
BEFREE |
This study demonstrates that the IHC approach for both MMR deficiency and V600E BRAF mutation detections is the most efficient approach for Lynch syndrome screening in the Italian population.
|
31609810 |
2019 |
|
rs113488022
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In a series of 38 patients who met clinical criteria for Lynch syndrome genetic testing, with loss of MLH1 expression in the tumor and with no germline mutations in the MLH1 gene (35/38) or with tumors presenting the BRAF p.Val600Glu mutation (3/38), we screened for constitutional methylation of the MLH1 gene promoter using methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) in various biological samples.
|
29341452 |
2018 |
|
rs113488022
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We defined sporadic MSI-high carcinomas as those with loss of MLH1 and PMS2 immunostaining and BRAF V600E mutations that occurred in patients 50 years of age or older without a family history of colonic adenocarcinoma or Lynch syndrome.
|
25602793 |
2015 |
|
rs113488022
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The MSI-high status has also been described in sporadic colorectal cancer (CRC) associated with BRAF gene mutation (V600E); this mutation was not present in LS-associated cancers.
|
26096739 |
2015 |
|
rs113488022
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The BRAF V600E mutation is specifically associated with sporadic MSI+ CRCs with methylated MLH1, but is not associated with Lynch syndrome-related CRCs.
|
25701956 |
2015 |
|
rs113488022
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Using BRAF V600E IHC in our Lynch syndrome screening algorithm, we found a 10% cost savings compared with mutational analysis.
|
25696791 |
2015 |
|
rs113488022
|
|
|
0.100 |
GeneticVariation |
BEFREE |
MSI-H colorectal carcinomas were divided into sporadic (112/1292, 8.7%) and LS/probable LS-associated (38/1292, 2.9%) groups based on BRAF V600E mutation, MLH1 promoter hypermethylation, cancer history, and germline mismatch repair gene mutation.
|
24034859 |
2013 |
|
rs113488022
|
|
|
0.100 |
GeneticVariation |
BEFREE |
BRAF V600E mutation analysis simplifies the testing algorithm for Lynch syndrome.
|
23897252 |
2013 |
|
rs113488022
|
|
|
0.100 |
GeneticVariation |
BEFREE |
HER2 overexpression (3+) was observed in 2 out of 62 patients, overexpression of p53 in 26 out of 62, abnormal expression of β-catenin in 12 out of 61, KRAS mutation in 21 out of 49, BRAF V600E mutation in 1 out of 40 patients, MMR deficiency (dMMR) in 14 out of 61 and was consistent with Lynch syndrome in 9 out of 14 patients.
|
24196786 |
2013 |
|
rs113488022
|
|
|
0.100 |
GeneticVariation |
BEFREE |
None of the tumors from mismatch repair (MMR) gene germline mutation carriers (n = 28) displayed positive VE1 staining, indicating that BRAF V600E mutation-specific immunostaining has a low risk of excluding Lynch syndrome patients from germline mutation analysis.
|
23553055 |
2013 |
|
rs113488022
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Seventy cases were found to have MSI, of which 25 were excluded from further investigation as possible LS cases due to presence of the BRAF V600E mutation.
|
22120844 |
2012 |
|
rs113488022
|
|
|
0.100 |
GeneticVariation |
BEFREE |
BRAF V600E mutation and MLH1 promoter hypermethylation have been proposed as a screening tool for the identification of LS.
|
22274583 |
2012 |
|
rs113488022
|
|
|
0.100 |
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 |
|
rs113488022
|
|
|
0.100 |
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 |
|
rs113488022
|
|
|
0.100 |
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 |
|
rs113488022
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Detection of BRAF V600E mutation could simplify and improve the cost effectiveness of genetic testing for hereditary nonpolyposis colorectal cancer, especially in patients whose family history is incomplete or unknown.
|
18096441 |
2008 |
|
rs113488022
|
|
|
0.100 |
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 |
|
rs113488022
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The detection of a BRAF V600E mutation further supports the exclusion of HNPCC.
|
17545526 |
2007 |
|
rs113488022
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Tumors were also screened for BRAF V600E mutations; patients with the mutation were considered as non-HNPCC.
|
17312306 |
2007 |
|
rs113488022
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Frequency and application of the hot spot BRAF gene mutation (p.V600E) in the diagnostic strategy for Hereditary Nonpolyposis Colorectal Cancer.
|
17566669 |
2007 |
|
rs113488022
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Mutation V600E of BRAF, a kinase-encoding gene from the RAS/RAF/MAPK pathway, in colorectal carcinoma (CRC) suggests a sporadic origin of the disease, providing an exclusion criterion for hereditary nonpolyposis colorectal cancer.
|
17065421 |
2006 |
|
rs113488022
|
|
|
0.100 |
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 |
|
rs113488022
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The BRAF-V600E hotspot mutation was found in 40% (82/206) of the sporadic MSI-H tumours analysed but in none of the 111 tested HNPCC tumours or in the 45 cases showing abnormal MSH2 immunostaining.
|
15342696 |
2004 |