|
rs1060503115
|
|
|
0.090 |
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 |
|
rs1060503115
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Using BRAF V600E IHC in our Lynch syndrome screening algorithm, we found a 10% cost savings compared with mutational analysis.
|
25696791 |
2015 |
|
rs1060503115
|
|
|
0.090 |
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 |
|
rs1060503115
|
|
|
0.090 |
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 |
|
rs1060503115
|
|
|
0.090 |
GeneticVariation |
BEFREE |
BRAF V600E mutation analysis simplifies the testing algorithm for Lynch syndrome.
|
23897252 |
2013 |
|
rs1060503115
|
|
|
0.090 |
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 |
|
rs1060503115
|
|
|
0.090 |
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 |
|
rs1060503115
|
|
|
0.090 |
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 |
|
rs1060503115
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Tumors were also screened for BRAF V600E mutations; patients with the mutation were considered as non-HNPCC.
|
17312306 |
2007 |