|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
BRAF c.1799 mutation analysis was also included to streamline LS testing, with all c.1799T>A variants being correctly identified.
|
31471937 |
2020 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The cases demonstrated diffuse MLH1 loss associated with BRAF mutations and MLH1 promoter hypermethylation in keeping with sporadic dMMR, with presumed additional double hit mutations in MSH2+/-MSH6 rather than underlying LS.
|
30723092 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
BRAF mutations are found in serrated polyposis syndrome and have a negative correlation with hereditary nonpolyposis colorectal cancer (HNPCC).
|
30592501 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
GeneticVariation
|
disease |
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 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
AGPS advocates appropriate government funding for the molecular tests necessary for Lynch syndrome screening (BRAF mutation, MLH1 methylation testing).
|
30851981 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
Biomarker
|
disease |
BEFREE |
Clinically, these findings suggest that in case of limitation for BRAF testing, the practitioner in Iran may consider managing early onset dMMR cases like LS until access to BRAF testing becomes available to them, before germline testing to accurately diagnose LS.
|
30166308 |
2018 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
On the basis of the MMR expression pattern and BRAF mutation, the Concordant and Discordant groups were suspected to include Lynch syndrome, Lynch-like syndrome and sporadic MLH1 promoter hypermethylated CRC.
|
28877066 |
2018 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Testing with MSI or IHC, followed by BRAF p.V600E testing missed 5 and 6 cases of LS, respectively.
|
29596542 |
2018 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
GeneticVariation
|
disease |
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 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
Biomarker
|
disease |
BEFREE |
The BRAF-Pathway identified the same number of LS cases for higher costs.
|
29645364 |
2018 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Of the 24 patients enrolled, four subjects (16.7%) had MSI high tumors: one subject was found to harbor a biallelic PMS2 mutation, one subject had Lynch syndrome (LS) with MSH6 mutation and two subjects had a loss of MLH1/PMS2 proteins/BRAF <sup>wild type</sup>/normal MLH1 sequence.
|
28608265 |
2018 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
PosttranslationalModification
|
disease |
BEFREE |
Fifteen (7.4%) patients had abnormal MMR protein expression patterns in the absence of BRAF mutation or MLH1 promoter methylation suggestive of possible LS.
|
28664346 |
2017 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
PosttranslationalModification
|
disease |
BEFREE |
A tailored approach to BRAF and MLH1 methylation testing in a universal screening program for Lynch syndrome.
|
28059100 |
2017 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In an analysis of 85 cases detected after colonoscopy, we found BRAF mutations in 23% of tumors and that 7% of cases had features of Lynch syndrome.
|
27443823 |
2016 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The detection of BRAF mutation in colorectal cancer has several clinical applications: enabling the discrimination between sporadic and Lynch syndrome-related colorectal carcinoma, and providing warning of a poorer prognosis.
|
25710585 |
2016 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Testing for BRAF mutations in colorectal carcinoma (CRC) is important in the screening pathway for Lynch syndrome and is of prognostic value to guide management.
|
26537294 |
2016 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We did not detect BRAF mutations in patients with double somatic colorectal tumors or Lynch syndrome.
|
27302833 |
2016 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Both MLH1-hypermethylated BRAF wild-type colorectal carcinoma and MLH1-deficient BRAF-mutated colorectal carcinoma had a predilection for the right colon compared with Lynch syndrome-associated colorectal carcinoma (86% vs. 92% vs. 49%, P<0.001).
|
27438990 |
2016 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A total of 253 individuals with an MMRD CRC or EC from one institution were included for analysis in one of four groups: LS; MMRD+/germ-line-; MMRD tumor with variant of uncertain significance (MMRD+/VUS); and sporadic MSI-H (MMRD tumor with MLH1 promoter hypermethylation or BRAF mutation).
|
25341111 |
2015 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
GeneticVariation
|
disease |
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 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
Biomarker
|
disease |
BEFREE |
The sensitivity for ruling out LS was 100% for BRAF analysis, 84.2% for MLH1 methylation analysis, and 84.2% for the combination of both analyses.
|
25557234 |
2015 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
GeneticVariation
|
disease |
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 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
GeneticVariation
|
disease |
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 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Using BRAF V600E IHC in our Lynch syndrome screening algorithm, we found a 10% cost savings compared with mutational analysis.
|
25696791 |
2015 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
BRAF mutations have been proposed as a marker to exclude LS because they are generally absent in LS patients and present in sporadic colorectal cancer (sCRC) with MSI due to promoter hypermethylation of the MLH1 gene.
|
25076244 |
2014 |