|
Malignant neoplasm of colon and/or rectum
|
0.100 |
Biomarker
|
disease |
BEFREE |
We aim to better understand MSH6 staining heterogeneity in colorectal cancer by comparative sequencing of different tumor areas for MMR and DNA polymerase mutations.
|
31783044 |
2020 |
|
Malignant neoplasm of colon and/or rectum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Colorectal cancer in Lynch syndrome associated with PMS2 and MSH6 mutations.
|
31845022 |
2020 |
|
Malignant neoplasm of colon and/or rectum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic MSH6 variants caused a sex-limited trait with high endometrial cancer risk but only modestly increased colorectal cancer risk in both genders.
|
31337882 |
2020 |
|
Malignant neoplasm of colon and/or rectum
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Additional loss of MSH2 and MSH6 expression in sporadic deficient mismatch repair colorectal cancer due to MLH1 promoter hypermethylation.
|
30723092 |
2019 |
|
Malignant neoplasm of colon and/or rectum
|
0.100 |
Biomarker
|
disease |
BEFREE |
After filtering, 15 pathogenic germline variants (9.9%) were found in 15 patients, arising from 9 genes of varying penetrance for colorectal cancer (APC (n = 2; 13%), ATM (n = 1; 6%), BRCA1 (n = 2; 13%), CDH1 (n = 2; 13%), CHEK2 (n = 4; 27%), MSH2 (n = 1; 7%), MSH6 (n = 1; 7%), NF2 (n = 1; 7%), and TP53 (n = 1; 7%)).
|
30730459 |
2019 |
|
Malignant neoplasm of colon and/or rectum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Germline MLH1, MSH2 and MSH6 variants in Brazilian patients with colorectal cancer and clinical features suggestive of Lynch Syndrome.
|
29575718 |
2018 |
|
Malignant neoplasm of colon and/or rectum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The aim of the study was to determine the relationship between gene polymorphism Glu39Gly (c.116G>A) of the hMSH6 gene and the modulation of the risk of sporadic colorectal cancer in the Polish population.
|
29442465 |
2017 |
|
Malignant neoplasm of colon and/or rectum
|
0.100 |
Biomarker
|
disease |
BEFREE |
Lynch syndrome (LS) is an autosomal-dominant inherited disorder mainly caused by a germline mutation in the DNA mismatch repair (MMR) genes (MLH1, MSH2, MSH6, and PMS2) and is associated with increased risk for various cancers, particularly colorectal cancer and endometrial cancer (EC).
|
26848797 |
2016 |
|
Malignant neoplasm of colon and/or rectum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The frequency of MSH6 mutation carriers among patients presenting with MSI-L colorectal cancer has yet to be determined, as has the appropriate genetic workup in this context.
|
25432668 |
2015 |
|
Malignant neoplasm of colon and/or rectum
|
0.100 |
Biomarker
|
disease |
BEFREE |
Using data from the Colon Cancer Family Registry, we compared the proportion of childhood cancers (diagnosed before 18 years of age) in the first-, second-, and third-degree relatives of 781 probands with a pathogenic mutation in one of the MMR genes; MLH1 (n = 275), MSH2 (n = 342), MSH6 (n = 99), or PMS2 (n = 55) or in EPCAM (n = 10) (Lynch syndrome families), with that of 5073 probands with MMR-deficient colorectal cancer (non-Lynch syndrome families).
|
25963852 |
2015 |
|
Malignant neoplasm of colon and/or rectum
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Relationship between MLH-1, MSH-2, PMS-2,MSH-6 expression and clinicopathological features in colorectal cancer.
|
26097592 |
2015 |
|
Malignant neoplasm of colon and/or rectum
|
0.100 |
Biomarker
|
disease |
BEFREE |
On the other hand, the hexaplex panel has higher sensitivity for the identification of MSH6-deficient tumours (94.7% vs 84.2%) and MMR-deficient tumours other than colorectal cancer (92.9% vs 85.7%).
|
23652311 |
2013 |
|
Malignant neoplasm of colon and/or rectum
|
0.100 |
Biomarker
|
disease |
BEFREE |
Germ-line mutations in the DNA mismatch repair genes MLH1, MSH2, and MSH6 predispose to the development of colorectal cancer (Lynch syndrome or hereditary nonpolyposis colorectal cancer).
|
24090359 |
2013 |
|
Malignant neoplasm of colon and/or rectum
|
0.100 |
Biomarker
|
disease |
BEFREE |
High-resolution melting analyses for gene scanning of APC, MLH1, MSH2, and MSH6 associated with hereditary colorectal cancer.
|
22283331 |
2012 |
|
Malignant neoplasm of colon and/or rectum
|
0.100 |
Biomarker
|
disease |
BEFREE |
Hereditary non-polyposis colorectal cancer (HNPCC) is a genetic disorder caused by mutation in one of the mismatch repair (MMR) genes (MLH1, MSH2, MSH6, PMS2) which predisposes to colorectal cancer and other malignances, that not yet include sarcomas.
|
22782591 |
2012 |
|
Malignant neoplasm of colon and/or rectum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Lynch syndrome, also known as hereditary non-polyposis colorectal cancer, characterized by predisposition to colorectal cancer and other associated cancers, is an autosomal-dominant disorder mainly caused by germline mutations in DNA mismatch repair (MMR) genes such as MLH1, MSH2, and MSH6.
|
22766992 |
2012 |
|
Malignant neoplasm of colon and/or rectum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The estimated cumulative risks of colorectal cancer by age 70 years were 41% (95% confidence intervals [CI], 25%-70%) for MLH1 mutation carriers, 48% (95% CI, 30%-77%) for MSH2, and 12% (95% CI, 8%-22%) for MSH6.
|
21642682 |
2011 |
|
Malignant neoplasm of colon and/or rectum
|
0.100 |
Biomarker
|
disease |
BEFREE |
This relates particularly to MSH6-associated cases, which show reduced penetrance of colorectal cancer and a higher age at diagnosis.
|
21836479 |
2011 |
|
Malignant neoplasm of colon and/or rectum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Hereditary non-polyposis colorectal cancer is the most common known genetic syndrome that predisposes to various types of cancer including gastric cancer and occures mainly due to pathogenic germline mutations in DNA mismatch repair (MMR) genes, such as MLH1, MSH2 and MSH6.
|
21136174 |
2011 |
|
Malignant neoplasm of colon and/or rectum
|
0.100 |
Biomarker
|
disease |
BEFREE |
MSH6 and MUTYH deficiency is a frequent event in early-onset colorectal cancer.
|
20924129 |
2010 |
|
Malignant neoplasm of colon and/or rectum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Compared with incidence for the general population, MSH6 mutation carriers had an eightfold increased incidence of colorectal cancer (HR = 7.6, 95% CI = 5.4 to 10.8), which was independent of sex and age.
|
20028993 |
2010 |
|
Malignant neoplasm of colon and/or rectum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Data suggest that the frequency of MSH6 mutation is higher in hereditary non-polyposis colorectal cancer patients than in atypical hereditary non-polyposis colorectal cancer and sporadic patients.
|
19492230 |
2009 |
|
Malignant neoplasm of colon and/or rectum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The MSH6 G39E germline polymorphism is not associated with an increased risk of either microsatellite stable or unstable sporadic colorectal cancer.
|
19582761 |
2009 |
|
Malignant neoplasm of colon and/or rectum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Association of MUTYH and MSH6 germline mutations in colorectal cancer patients.
|
19685280 |
2009 |
|
Malignant neoplasm of colon and/or rectum
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Examination of the colorectal cancer tissue showed high microsatellite instability (MSI-H) and an exclusive loss of expression of the MSH6 protein.
|
18409202 |
2008 |