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 |
Screening for the Lynch syndrome with immunohistochemistry followed by BRAF mutation testing only up to age 70 years cost $44,000 per incremental life-year gained compared with screening only up to age 60 years, and screening without an upper age limit cost $88,700 per incremental life-year gained compared with screening only up to age 70 years.
|
21768580 |
2011 |
Lynch Syndrome
|
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 |
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 |
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 |
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 |
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 |
Lynch Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We did not detect BRAF mutations in patients with double somatic colorectal tumors or Lynch syndrome.
|
27302833 |
2016 |
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 |
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 |
Lynch Syndrome
|
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 |
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 |
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 |
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 |
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 |
We conclude that BRAF IHC is highly concordant with 2 commonly used PCR-based BRAFV600E assays; it performed well in identifying MLH1 mutation carriers from the ACCFR and identified all cases of proven LS among the 1403 CRCs.
|
23797718 |
2013 |
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 |
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 |
Testing with MSI or IHC, followed by BRAF p.V600E testing missed 5 and 6 cases of LS, respectively.
|
29596542 |
2018 |
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 |
We propose the following algorithm: (1) no further molecular analysis should be performed for CRC exhibiting MLH1 methylation and BRAF mutation, and these cases should be considered as sporadic CRC; (2) CRC with unmethylated MLH1 and negative for BRAF mutation should be considered as Lynch syndrome; and (3) only a small fraction of CRC with MLH1 promoter methylation but negative for BRAF mutation should be true Lynch syndrome patients.
|
19949877 |
2010 |
Lynch Syndrome
|
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 |
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 |
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 |
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 |