Colorectal Carcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
On reviewing the archived MLH1-IHC slides, we observed the same dot-like pattern in two CRCs; in both cases the M1-clone had been used.
|
31402167 |
2020 |
Colorectal Carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Lynch syndrome accounts for 3-5% of colorectal cancers and is due to a germline mutation in one of the mismatch repair genes MLH1, MSH2, MSH6, and PMS2.
|
31745674 |
2020 |
Colorectal Carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Defects in MMR genes are known to be crucial for familial form of colorectal cancer but our findings suggest that specific genetic variations in MLH1 are important also in the individual predisposition to sporadic colon cancer.
|
31209889 |
2020 |
Colorectal Carcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
In Denmark, the national HNPCC register has been granted an exception to send unsolicited letters with information on hereditary colorectal cancer and an invitation to genetic counseling to members of families with familial and hereditary colorectal cancer.
|
29651783 |
2019 |
Colorectal Carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The absence of BRAF V600E mutation separates LLS colorectal carcinomas from MLH1-methylated colorectal carcinomas with CIMP-positive phenotype.
|
30575961 |
2019 |
Colorectal Carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Of the 363 patients in the initial cohort, 11(3.0%) harbored oncogenic fusions and were all mismatch repair-deficient colorectal carcinomas with hypermethylated MLH1 and wild-type BRAF and KRAS, comprising 55% (11/20) of this subgroup.
|
30723297 |
2019 |
Colorectal Carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We compared the development of (advanced) adenomas and CRC among patients with pathogenic variants in the DNA mismatch repair genes MLH1 (n=55), MSH2 (n=44), MSH6 (n=143), or PMS2 (n=22) over 1836 years of follow-up (median follow-up of 6 years per patient).
|
31470178 |
2019 |
Colorectal Carcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
In tumor cells of 70 HNPCC-associated colorectal cancers, 64 cases (91.43%) showed no MLH1 staining, 5 cases weak (7.14%) and 1 case (1.43%) stronger staining intensity.
|
30613919 |
2019 |
Colorectal Carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The three pathogenic variants included two colorectal cancers with MLH1 loss and high MSI and one endometrial cancer with MSH6 loss and microsatellite stability.
|
31386297 |
2019 |
Colorectal Carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The rate of patients with lesions containing both mutL homolog 1 (MLH1) methylation and microsatellite stable status was 66.7% in those with synchronous CRC, with at least one lesion with high microsatellite instability.
|
30842178 |
2019 |
Colorectal Carcinoma
|
0.800 |
PosttranslationalModification
|
disease |
BEFREE |
Approximately 15% to 20% of colorectal cancers are developed through the serrated pathway of tumorigenesis, which is associated with BRAF mutation, CpG island methylation phenotype, and MLH1 methylation.
|
31199922 |
2019 |
Colorectal Carcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Compared with the surrounding normal mucosa, SPTAN1 expression was reduced in MLH1-deficient CRCs, whereas MLH1-proficient CRCs showed a significant upregulation of SPTAN1.
|
30856214 |
2019 |
Colorectal Carcinoma
|
0.800 |
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 |
Colorectal Carcinoma
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Six formalin-fixed paraffin-embedded CRCs developed within SSA/P were profiled for the immunohistochemical expression of MMR proteins (MLH1, MSH2, MSH6, PMS2, and Ep-CAM), p16, and β-catenin.
|
30738693 |
2019 |
Colorectal Carcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
We wanted to elucidate the role of <i>MLH1/MSH2</i> in the prediction and prognosis of CRC through long-term clinical observation.
|
31798786 |
2019 |
Colorectal Carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Many colorectal cancers (CRCs) that exhibit microsatellite instability (MSI) are not explained by MLH1 promoter methylation or germline mutations in mismatch repair (MMR) genes, which cause Lynch syndrome (LS).
|
30989425 |
2019 |
Colorectal Carcinoma
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Notably, true tumor cell PD-L1 expression in colorectal carcinoma was rare, present in only 3 of 129 tumors (2.3%): 2 MLH1-methylated and 1 mismatch-repair-proficient with high tumor-infiltrating-lymphocytes; and the staining in the tumor cells in all 3 was diffuse (>=50% of the tumor).
|
30166615 |
2019 |
Colorectal Carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
MLH1 promoter methylation and V600E BRAF mutation analysis were investigated on 61 CRCs.
|
31609810 |
2019 |
Colorectal Carcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
In this first report from Pakistan, we investigated the prevalence of pathogenic <i>MLH1/MSH2/MSH6</i> variants in colorectal cancer (CRC) patients.
|
31660093 |
2019 |
Colorectal Carcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
In this study, we screened through a library of commercial and semisynthetic natural compounds to identify potential synthetic lethal drugs that may selectively target MLH1 mutants using MLH1 isogenic colorectal cancer cell lines and various cancer cell lines with known MLH1 status.
|
30897027 |
2019 |
Colorectal Carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here we use the presence of a colorectal cancer (CRC) risk variant (rs1800734) within the MLH1 promoter to investigate the poorly understood mechanisms of MLH1 promoter methylation and loss of expression.
|
31530880 |
2019 |
Colorectal Carcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Of 24 total MLH1-deficient colorectal carcinomas with MLH1ph and wild-type <i>RAS/BRAF</i>, 10 (42%) harbored kinase fusions.
|
30643016 |
2019 |
Colorectal Carcinoma
|
0.800 |
PosttranslationalModification
|
disease |
BEFREE |
Sessile serrated adenomas (SSAs), the main precursor lesion of the serrated pathway, are molecularly driven by MLH1 promoter methylation and microsatellite instability (MSI) in their progression to CRC.
|
30172913 |
2019 |
Colorectal Carcinoma
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
In addition, we found that patients with intact nuclear expression for MLH1 and/or PMS2 were more likely to have higher tumor budding compared with patients with lost expression, possibly related to mismatch repair CC's not being as reliant on tumor budding.
|
31567276 |
2019 |
Colorectal Carcinoma
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
We transiently expressed MLH1 or MSH2 variants in MLH1- or MSH2-null human colorectal cancer cell lines (HCT116 or LoVo), respectively.
|
30998989 |
2019 |