|
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 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 |
GeneticVariation
|
disease |
BEFREE |
The minimum estimate of the prevalence of inherited MSH6 mutation in endometrial cancer is 1.6% (7 of 441), comparable with the predicted prevalence for patients with colorectal cancer.
|
12732731 |
2003 |
|
Malignant neoplasm of colon and/or rectum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Very low prevalence of germline MSH6 mutations in hereditary non-polyposis colorectal cancer suspected patients with colorectal cancer without microsatellite instability.
|
17117178 |
2006 |
|
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 |
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 |
Germline mutations in hMSH6 are rare and rather confer predisposition to late-onset familial colorectal cancer, and frequent extracolonic tumors.
|
11900875 |
2002 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
HMSH6 alterations in patients with microsatellite instability-low colorectal cancer.
|
10786688 |
2000 |
|
Malignant neoplasm of colon and/or rectum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In female MSH6 mutation carriers, the risk for colorectal cancer was significantly lower (P = 0.0049) and the risk for endometrial cancer significantly higher (P = 0.02) than in MLH1 and MSH2 mutation carriers.
|
15236168 |
2004 |
|
Malignant neoplasm of colon and/or rectum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Eight novel MSH6 germline mutations in patients with familial and nonfamilial colorectal cancer selected by loss of protein expression in tumor tissue.
|
14974087 |
2004 |
|
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 |
Combined deficiency of hMLH1, hMSH2, hMSH3 and hMSH6 is an independent prognostic factor in colorectal cancer.
|
12469183 |
2003 |
|
Malignant neoplasm of colon and/or rectum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Later age of disease onset and lower incidence of colorectal cancer may contribute to a lower proportion of identified MSH6 mutations in families suspected of HNPCC.
|
15483016 |
2004 |
|
Malignant neoplasm of colon and/or rectum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Further studies are warranted to understand the genetic and environmental factors responsible for the variable penetration of MSH6 germline mutations, as well as to identify other causes of early-onset colorectal cancer.
|
16940983 |
2006 |
|
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 |
|
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer.
|
10480359 |
1999 |
|
Malignant neoplasm of colon and/or rectum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
MSH6 mutation carriers have later age of onset of both colorectal cancer (62 vs. 51 years) and endometrial cancer (58 vs. 48 years) and a larger proportion of endometrial cancer than MLH1 or MSH2 mutation carriers.
|
14961575 |
2004 |
|
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 |
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 |
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 |
Moreover, the mean age of onset of both colorectal cancer (MSH6 v MSH2/MLH1 = 55 years v 44/41 years) and endometrial carcinomas (MSH6 v MSH2/MLH1 = 55 years v 49/48 years) is delayed.
|
11333868 |
2001 |