Lynch Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
BRAF mutation or MLH1 methylation analysis combined with MSI testing could be a good alternative to screen Lynch syndrome patients in a cost effective manner.
|
19424639 |
2009 |
Lynch Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
BRAF mutation testing has a role in (1) differentiating sporadic colorectal cancer from Lynch syndrome, (2) identifying cancers lacking BRAF mutation that are more likely to respond to epidermal growth factor receptor inhibitor therapy, and (3) conferring worse prognosis in colorectal cancer that is microsatellite stable.
|
20670148 |
2010 |
Lynch Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
BRAF V600E mutation and MLH1 promoter hypermethylation have been proposed as a screening tool for the identification of LS.
|
22274583 |
2012 |
Lynch Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
BRAF gene sequencing may help to distinguish between patients with sporadic and LS-associated colorectal carcinomas with loss of MLH1 expression.
|
24767862 |
2014 |
Lynch Syndrome
|
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 |
Lynch Syndrome
|
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 |
Lynch Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A prospective, multicenter, population-based study of BRAF mutational analysis for Lynch syndrome screening.
|
18096441 |
2008 |
Lynch Syndrome
|
0.100 |
PosttranslationalModification
|
disease |
BEFREE |
A tailored approach to BRAF and MLH1 methylation testing in a universal screening program for Lynch syndrome.
|
28059100 |
2017 |
Lynch Syndrome
|
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 |
Lynch Syndrome
|
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 |
Lynch Syndrome
|
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 |
Lynch Syndrome
|
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 |
Lynch Syndrome
|
0.100 |
GeneticVariation
|
disease |
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 |
Lynch Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
EC specimens were analysed for MSI, IHC of four MMR proteins, MMR gene methylation status and BRAF-mutations. tumours were classified as; 1) likely to be caused by LS, 2) sporadic MSI-H, or 3) microsatellite stable (MSS).
|
22306203 |
2012 |
Lynch Syndrome
|
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 |
Lynch Syndrome
|
0.100 |
GeneticVariation
|
disease |
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 |
Lynch Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Hereditary non-polyposis colorectal cancer (HNPCC) may be the result of Lynch syndrome (LS) caused by mutations in mismatch repair (MMR) genes, a syndrome of unknown etiology called familial colorectal cancer type-X (FCCTX), or familial serrated neoplasia associated with the colorectal cancer (CRC) somatic BRAF mutation.
|
23278430 |
2013 |
Lynch Syndrome
|
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 |
Lynch Syndrome
|
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 |
Lynch Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In this review the morphological correlates of five molecular subtypes are outlined: Type 1 (CIMP-high/MSI-H/BRAF mutation), Type 2 (CIMP-high/MSI-L or MSS/BRAF mutation), Type 3 (CIMP-low/MSS or MSI-L/KRAS mutation), Type 4 (CIMP-neg/MSS) and Type 5 or Lynch syndrome (CIMP-neg/MSI-H).
|
17204026 |
2007 |
Lynch Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Microsatellite instability/CIMP-high early-onset CRC was associated with Lynch syndrome, whereas the elderly cases were associated with BRAF mutations.
|
24184227 |
2014 |
Lynch Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
MSI+ tumours were found in 105/1,344 (7.8%) patients, of which 7 were excluded as possible Lynch syndrome because of BRAF mutation.
|
19072991 |
2009 |
Lynch Syndrome
|
0.100 |
GeneticVariation
|
disease |
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 |
Lynch Syndrome
|
0.100 |
GeneticVariation
|
disease |
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 |
Lynch Syndrome
|
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 |