|
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
Biomarker
|
disease |
BEFREE |
Pathogenic variants in mismatch repair (MMR) genes (<i>MLH1, MSH2</i>, <i>MSH6</i> and <i>PMS2</i>) increase risk for Lynch syndrome and related cancers.
|
31391288 |
2020 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
PosttranslationalModification
|
disease |
BEFREE |
This new case of concomitant presence of MLH1 promoter hypermethylation and MLH1 germline mutation demonstrates that the presence of MLH1 promoter hypermethylation should not rule out the diagnosis of Lynch Syndrome.
|
31745674 |
2020 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Overall, 17/23 (74%) subjects carried LS-associated gene variants (MLH1: 10; MSH2: 4; MSH6: 2; PMS2: 1), with 2 alleles (MLH1 c.677G > T and MSH2 с.1906G > C) detected twice.
|
31491536 |
2020 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The level of invasive front immune cell staining was significantly higher in mismatch-repair-deficient tumors compared to mismatch-repair-proficient tumors (p < 0.001), but no difference was observed among the different subtypes of mismatch-repair-deficient tumors: Lynch syndrome-associated vs. MLH1-methylated vs. unexplained.
|
30166615 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
PosttranslationalModification
|
disease |
BEFREE |
Six hundred and fifty-four consecutive CRC patients were screened for suspected LS using MSI and absence of MLH1 methylation.
|
30989425 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
Biomarker
|
disease |
BEFREE |
For patients with Lynch Syndrome (LS) (formerly known as hereditary nonpolyposis colorectal cancer or HNPCC), inheritance of one of several mutated mismatch repair genes (MMR) results in an increased risk for a variety of malignancies including colon, rectal, endometrial, urinary tract, gastric, small bowel and others [1].
|
31445773 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Alu element insertion in the MLH1 exon 6 coding sequence as a mutation predisposing to Lynch syndrome.
|
30815977 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Somatic mosaicism by a de novo MLH1 mutation as a cause of Lynch syndrome.
|
31104363 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Matched germline DNA was analyzed for mutations in LS-associated mismatch repair genes ( MLH1, MSH2, MSH6, PMS2, EPCAM).
|
30376427 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Kinase fusions in MSI-H colorectal carcinoma were associated with sporadic MLH1ph rather than with Lynch syndrome, and these patients may be eligible for kinase inhibitors, particularly following resistance or toxicity in response to immunotherapy.
|
30643016 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
Biomarker
|
disease |
BEFREE |
Tumor triage with IHC and reflex <i>MLH1</i> methylation testing of MLH1 protein-deficient cancers followed by NGS of women with likely Lynch syndrome cost £45.68.
|
30863719 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
PosttranslationalModification
|
disease |
BEFREE |
Constitutional MLH1 methylation (epimutation) is a rare cause of Lynch syndrome.
|
31779681 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
Biomarker
|
disease |
BEFREE |
Lynch syndrome (LS) registries have been criticized for not reporting colonoscopy quality adequately.<b>Methods:</b> Prospective follow-up data from the national registry were combined with a retrospective assessment of the colonoscopy reports from Helsinki University Hospital electronic patients records in 2004-2019.<b>Results:</b> Total of 366 <i>MLH1, MSH2</i> and <i>MSH6</i> carriers underwent 1564 colorectal endoscopies (mean 4.3 per patient, range 1-10) at a single unit.
|
31829749 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
PosttranslationalModification
|
disease |
BEFREE |
Among 107 MMR-deficient tumors, 81 (76%) were attributable to MLH1 promoter methylation and 9 (8%) to germline mutations (Lynch syndrome, LS), leaving 14 LLS cases (13%) (3 remained unclassified).
|
30575961 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The 138 analyzable patients were all proven mismatch repair mutation carriers for LS (MLH1 = 33%, MSH2 = 47%, MSH6 = 15%, PMS2 = 4%, and EPCAM = 1%).
|
31498154 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Computational and cellular studies reveal structural destabilization and degradation of MLH1 variants in Lynch syndrome.
|
31697235 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We adapted this method to test the effects of VUS in MLH1 and MSH2 genes found in patients with suspected Lynch syndrome.
|
30998989 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Here, we report substitution of one base-pair in exon 1 of MLH3 (c.1397C>A) and a frameshift mutation in exon 19 of MLH1 (c.2250_2251ins AA) in a 43-year-old Chinese male with an LS pedigree.
|
30614234 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
PosttranslationalModification
|
disease |
BEFREE |
Abnormal MMR expression in EIN/AH and adjacent carcinoma was concordant in 100% of LS cases and 71% of MLH1 promoter hypermethylation cases.
|
30383610 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Endometrioid endometrial cancer "recurring" as high-grade serous adenocarcinoma in the inguinal lymph nodes in a patient with germline MLH1 mutated Lynch syndrome: consequence or coincidence?
|
31139268 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Inactivating mutations in the MLH1 DNA mismatch repair (MMR) gene underlie 42% of Lynch syndrome (LS) cases.
|
31784484 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
MLH1 germline mutation associated with Lynch syndrome in a family followed for more than 45 years.
|
31046708 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Human mutL homolog 1 (MLH1) is a member of the MMRs, and its mutation is found in Lynch syndrome (LS).
|
31207149 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The purpose of this article is to provide a review of principles of genetic testing in prostate cancer and highlight the significance of clinical genetic testing of BRCA1/2 and other genes (CHEK2, HOXB13, PALB2), including Lynch syndrome genes (MLH1, MSH2, MSH6, and PMS2) in men with metastatic prostate cancer.
|
30681994 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
PosttranslationalModification
|
disease |
BEFREE |
Universal endometrial cancer tumor typing: How much has immunohistochemistry, microsatellite instability, and MLH1 methylation improved the diagnosis of Lynch syndrome across the population?
|
31150123 |
2019 |