|
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In addition, one patient with hypermutation phenotype was diagnosed as Lynch syndrome due to MLH1 mutation, suggesting the sensitivity for the treatment with immune checkpoint inhibitors.
|
31768798 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
Biomarker
|
disease |
BEFREE |
We observed that these cases presented at an age similar to MLH1-promoter hypermethylated (n = 20) and microsatellite-stable (n = 39) cases but older than Lynch syndrome-associated cases (n = 20, p < 0.05).
|
31175329 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Lynch syndrome (LS) is an autosomal dominant inherited disorder that is associated with an increased predisposition to certain cancers caused by loss-of-function mutations in one of four DNA mismatch repair (MMR) genes (MLH1, MSH2, MSH6, or PMS2).
|
30653781 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
PosttranslationalModification
|
disease |
BEFREE |
To describe the frequencies of mismatch repair deficiency (dMMR), BRAFV600E mutations and MLH1 methylation in resected CRC, and evaluate the impact of universal screening on LS detection.
|
30667141 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
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
|
0.900 |
PosttranslationalModification
|
disease |
BEFREE |
Reflex testing for Lynch syndrome using MMR immunohistochemistry and MLH1 methylation testing was cost-effective versus no testing, costing £14 200 per QALY gained.
|
31469860 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
Biomarker
|
disease |
BEFREE |
We analysed the <i>MLH1</i> promoter sequence in five different patient groups with colorectal cancer (CRC) (n=480) composed of patients with i) CEM (n=16), ii) unsolved loss of MLH1 expression in CRC (n=37), iii) CpG-island methylator-phenotype CRC (n=102), iv) patients with LS (n=83) and v) MLH1-proficient CRC (n=242) as controls.
|
29472279 |
2018 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
PosttranslationalModification
|
disease |
BEFREE |
Furthermore, we provide evidence that MLH1 constitutional hypermethylation is the molecular mechanism behind about 3% of Lynch syndrome families diagnosed in our institution, especially in patients with early onset or multiple primary tumors without significant family history.
|
29341452 |
2018 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
Biomarker
|
disease |
BEFREE |
HNPCC encompasses several cancer syndromes, such as Lynch syndrome, Lynch-like syndrome, and familial colorectal cancer type X, which have remarkable clinical presentations and overlapping genetic profiles that make clinical diagnosis a challenging task.
|
29849630 |
2018 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Here we report a germline heterozygous frame-shift mutation in the mismatch repair MLH1 gene which was identified in members of two unrelated LS families.
|
30108227 |
2018 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
Biomarker
|
disease |
BEFREE |
The primary objective of the present study was to compare the choice of colectomy, i.e. total vs. segmental colectomy, in cases of hereditary non-polyposis colorectal cancer (HNPCC/lynch syndrome), and to assess the efficacy, oncological safety, functional outcome and post-operative complications of total abdominal colectomy with ileorectal anastomosis vs. segmental colectomy in HNPCC.
|
30186378 |
2018 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Two familial forms of colorectal cancer (CRC), Lynch syndrome (LS) and familial adenomatous polyposis (FAP), are caused by rare mutations in DNA mismatch repair genes (MLH1, MSH2, MSH6, PMS2) and the genes APC and MUTYH, respectively.
|
30324682 |
2018 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
PosttranslationalModification
|
disease |
BEFREE |
When losses of both MLH1 and PMS2 proteins are observed by IHC, MLH1 promoter methylation analysis is conducted to distinguish Lynch syndrome-associated endometrial cancer from sporadic cancer.
|
29783979 |
2018 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Molecular and presymptomatic analysis of a Moroccan Lynch syndrome family revealed a novel frameshift MLH1 germline mutation.
|
30289396 |
2018 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Genetic counseling and germline analysis for mutations in genes associated with Lynch syndrome (MLH1, MSH2, MSH6, PMS2, and EPCAM) were offered to individuals with PREMM<sub>1,2,6</sub> scores of 5% or higher.
|
28668538 |
2018 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The genetic basis for hereditary nonpolyposis colorectal cancer is the detection of mutations in the MLH1, MSH2, MSH6, PMS2, and EPCAM genes.
|
29776633 |
2018 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A total of 5.4% of suspected Lynch syndrome patients have a rare single-nucleotide variant (G > A; rs143969848; 2.5% in gnomAD European, non-Finnish) within a highly conserved CTCF-binding motif, which disrupts enhancer activity in SW620 colorectal carcinoma cells.<b>Conclusions:</b> A CTCF-bound region within the <i>MLH1</i>-35 enhancer regulates <i>MLH1</i> expression in colorectal cells and is worthy of scrutiny in future genetic screening strategies for suspected Lynch syndrome associated with loss of MLH1 expression.<i></i>.
|
29898989 |
2018 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Based on public database searching followed by pedigree verification, p.K618del variant in MLH1 is a pathogenic mutation, which supported the diagnosis of LS.
|
29929473 |
2018 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We collected data from 16,327 colonoscopic examinations (conducted from 1984 through 2015) of 2747 patients with Lynch syndrome (pathogenic variants in the MLH1, MSH2, or MSH6 genes) from the German HNPCC Consortium, the Dutch Lynch Syndrome Registry, and the Finnish Lynch Syndrome Registry.
|
30063918 |
2018 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
Biomarker
|
disease |
BEFREE |
MLH1-rheMac hereditary nonpolyposis colorectal cancer syndrome in rhesus macaques.
|
29490919 |
2018 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
Biomarker
|
disease |
BEFREE |
The present retrospective cohort study aimed at investigating whether MLH1, APEX1, MUTYH, OGG1, NUDT1, XRCC5, XPA, and ERCC2 single nucleotide polymorphisms (SNPs) are associated with colorectal cancer (CRC) in Chinese population with Lynch syndrome.
|
29664240 |
2018 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Universal tumor screening for LS is routinely performed on colon cancer, and screening has identified patients with unexplained MMR deficiency that lack MLH1 methylation and a germline mutation.
|
29723603 |
2018 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Lynch syndrome (LS) is associated with germ-line mutations in the DNA mismatch repair (MMR) genes, mainly MLH1, MSH2, MSH6, and PMS2.
|
29405992 |
2018 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Lynch Syndrome (LS) is associated with germline mutations in one of the mismatch repair (MMR) genes, including MutL homolog 1 (MLH1), MutS homolog 2 (MSH2), MSH6, PMS1 homolog 2, mismatch repair system component (PMS2), MLH3 and MSH3.
|
29568967 |
2018 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Lynch syndrome (LS) is the most common hereditary colorectal cancer syndrome, caused by germline mutations in one of the major genes involved in mismatch repair (MMR): MLH1, MSH2, MSH6 and more rarely, PMS2.
|
29575718 |
2018 |