|
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Germline mutation prevalence in individuals with pancreatic cancer and a history of previous malignancy.
|
29360161 |
2018 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our results suggest that MSH6 pathogenic variants are not common among Brazilian LS probands diagnosed with CRC and that MMR gene rearrangements account for a significant proportion of the germline variants in this population underscoring the need to include rearrangement analysis in the molecular testing of Brazilian individuals with suspected Lynch syndrome.
|
29575718 |
2018 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Lynch syndrome due to pathogenic variants in the DNA mismatch repair genes MLH1, MSH2, and MSH6 is predominantly associated with colorectal and endometrial cancer, although extracolonic cancers have been described within the Lynch tumor spectrum.
|
30161022 |
2018 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
Biomarker
|
disease |
BEFREE |
In humans, the importance of MMR is underscored by the discovery that a single mutation in any 1 of 4 genes within the MMR pathway (MLH1, MSH2, MSH6 and PMS2) results in Lynch syndrome (LS).
|
29286535 |
2018 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer.
|
29345684 |
2018 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
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
|
0.800 |
Biomarker
|
disease |
BEFREE |
An expression pattern revealing absent MSH2 and intact MSH6 is not expected, but could result in failed Lynch syndrome detection.
|
29967423 |
2018 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
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
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Prediction of MLH1, MSH2, and MSH6 (PREMM<sub>1,2,6</sub>) is a web-based tool that analyzes individuals' personal/family histories of cancer to quantify their likelihood of carrying a germline mutation associated with Lynch syndrome.
|
28668538 |
2018 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
We report the case of a woman with an early-onset endometrial adenocarcinoma who was suspected to be affected with Lynch syndrome based on tumor dMMR phenotype (MSI associated with loss of expression of MSH2 and MSH6 proteins).
|
28819700 |
2018 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
PosttranslationalModification
|
disease |
BEFREE |
PMS2 and MSH6 protein expression in metastatic and matched primary tumor was assessed using clinically validated immunohistochemistry methods for Lynch syndrome screening.
|
30340772 |
2018 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
Biomarker
|
disease |
BEFREE |
Using MSI burden and bi-allelic alteration status, we reclassify two variants of unknown significance in MSH6 as potentially pathogenic for Lynch syndrome.
|
30217226 |
2018 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
However, MSH1, MSH2, MSH6 and PSM2, proteins that are associated with Lynch Syndrome, were expressed at normal levels.
|
29849799 |
2018 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency.
|
30013564 |
2018 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Genetic testing in one case with MSH2 and MSH6 deficiency confirmed the diagnosis of Lynch syndrome with MSH2 mutation.
|
29400022 |
2018 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
CRC risks for POLE mutation carriers are sufficiently high to warrant consideration of colonoscopy screening and implementation of management guidelines recommended for MSH6 mutation carriers in cases of Lynch syndrome.
|
29120461 |
2018 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline variants in mismatch repair genes MLH1, MSH2 (EPCAM), MSH6, or PMS2 cause Lynch syndrome.
|
29758216 |
2018 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, in this cohort of 24 consecutive Arab Bedouins with CRC, one patient was found to harbor a constitutional mismatch repair deficiency, one patient had LS with MSH6 mutation, and two patients had unresolved loss of MLH1/PMS2 proteins/BRAF <sup>wild type</sup> phenotype.
|
28608265 |
2018 |
|
Endometrial Carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in MSH6 were less prevalent, and MSH6 mutation carriers presented with colorectal and endometrial cancer at later ages than carriers of mutations in MSH2 or MLH1.
|
28772289 |
2017 |
|
Endometrial Carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To our knowledge, this is the first case of endometrial carcinoma of the LUS with MSH6 germline mutation.
|
27928858 |
2017 |
|
Endometrial Carcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Here we describe our institution's experience with a prospective universal screening protocol in which all ECs resected over a period of 19 months (n=242) were screened for MLH1, PMS2, MSH2, and MSH6 deficiencies using IHC, followed by MLH1 promoter methylation testing when appropriate.
|
27556954 |
2017 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
First description of mutational analysis of MLH1, MSH2 and MSH6 in Algerian families with suspected Lynch syndrome.
|
27468915 |
2017 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.
|
28874130 |
2017 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Multigene Panel Testing Provides a New Perspective on Lynch Syndrome.
|
28514183 |
2017 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Improving Mutation Screening in Patients with Colorectal Cancer Predisposition Using Next-Generation Sequencing.
|
28502729 |
2017 |