|
Endometrial Carcinoma
|
0.800 |
Biomarker
|
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 |
|
Endometrial Carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Instability of only mononucleotide repeat markers was found in both endometrial carcinomas and hyperplasias from MSH6 mutation carriers.
|
11054716 |
2000 |
|
Endometrial Carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Women who were MSH6 mutation carriers had a 26-fold increased incidence of endometrial cancer (HR = 25.5, 95% CI = 16.8 to 38.7) and a sixfold increased incidence of other cancers associated with Lynch syndrome (HR = 6.0, 95% CI = 3.4 to 10.7).
|
20028993 |
2010 |
|
Endometrial Carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Recently, a link has been established between hMSH6 mutations and 'atypical' hereditary non-polyposis colon cancer (HNPCC) with an increased incidence of endometrial cancers.
|
10753784 |
2000 |
|
Endometrial Carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report the first case of compound heterozygosity for two MSH6 mutations resulting in a nonconservative amino-acid change of a conserved residue and in a premature stop codon in a patient who developed rectal and endometrial cancer at ages 19 and 24 years, respectively, and presented few CALS in a single body segment.
|
16418736 |
2006 |
|
Endometrial Carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Endometrial cancer and/or atypical hyperplasia were diagnosed in 8 of 12 female carriers of MSH6 truncating mutations.
|
11709755 |
2002 |
|
Endometrial Carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Microsatellite instability positive ECs frequently are associated with frameshift mutations in coding mononucleotide tracts in IGFIIR, BAX, hMSH6, and hMSH3.
|
11753956 |
2001 |
|
Endometrial Carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We identified germline mutations in BRCA1 and in MSH6 in a patient with increased risk for HBOC diagnosed with endometrial cancer at the age of 46 years.
|
23164213 |
2012 |
|
Endometrial Carcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
However, to optimise the detection of MSH6 families, MSI and IHC analysis should also be performed in families with clustering of late-onset endometrial carcinoma.
|
18625694 |
2008 |
|
Endometrial Carcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Heterogenous MSH6 loss was seen in colorectal carcinoma (n=18), endometrial carcinoma (n=3), and sebaceous neoplasm (n=1).
|
26099011 |
2015 |
|
Endometrial Carcinoma
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Endometrial cancer of the proband was investigated for microsatellite instability (MSI) and immunohistochemical expression of MLH1, MSH2 and MSH6 proteins.
|
23695190 |
2014 |
|
Endometrial Carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to investigate the penetrance and expressivity of MSH6 mutations in kindreds ascertained through endometrial cancer probands unselected for family history.
|
15098177 |
2004 |
|
Endometrial Carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Israeli patients with early onset (age under 50 years) (n = 44) and familial nonsyndromic (n = 23) CRC, and women with familial clustering of EC or CRC (n = 12), and those diagnosed with EC at, or under, the age of 50 years (n = 5) were genotyped for germ-line mutations within the hMSH6 gene.
|
12537658 |
2002 |
|
Endometrial Carcinoma
|
0.800 |
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 |
|
Endometrial Carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The Lynch syndrome (LS) is an inherited cancer syndrome showing a preponderance of colorectal cancer (CRC) in context with endometrial cancer and several other extracolonic cancers, which is due to pathogenic mutations in the mismatch repair (MMR) genes, MLH1, MSH2, MSH6, and PMS2.
|
21769135 |
2011 |
|
Endometrial Carcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant disorder predisposing to predominantly colorectal cancer (CRC) and endometrial cancer frequently due to germline mutations in DNA mismatch repair (MMR) genes, mainly MLH1, MSH2 and also MSH6 in families seen to demonstrate an excess of endometrial cancer.
|
15118395 |
2004 |
|
Endometrial Carcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
To develop and validate a genetic counseling and risk prediction tool that estimates the probability of carrying a deleterious mutation in mismatch repair genes MLH1, MSH2, or MSH6 and the probability of developing colorectal or endometrial cancer.
|
17003396 |
2006 |
|
Endometrial Carcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Lynch syndrome is caused by germline mutations in MSH2, MLH1, MSH6, and PMS2 mismatch repair genes and leads to a high risk of colorectal and endometrial cancer.
|
21791569 |
2011 |
|
Endometrial Carcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
The latter finding is consistent with the literature that MSH6 endometrial cancers exhibit a phenotype different than those of the other MMR genes.
|
24503759 |
2014 |
|
Endometrial Carcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
To our knowledge, this is the first report to show that hMSH6 (C8) has an important role as an MSI target gene in sporadic endometrial cancer.
|
19787250 |
2009 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Frequent frameshift mutations in the DNA mismatch repair genes hMSH3, and hMSH6, have been reported in colorectal and endometrial cancers with microsatellite instability, however, it is unclear whether they are similarly altered in ovarian endometrioid carcinoma.
|
15547740 |
2004 |
|
Endometrial Carcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
The mismatch repair (MMR) genes MLH1, MSH2, MSH6, and PMS2 are associated with Lynch syndrome where colon and endometrial cancers are the predominant phenotypes.
|
19723918 |
2009 |
|
Endometrial Carcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Overall, 15% (7/50) of microsatellite instability high endometrial carcinomas showed isolated loss of MSH6 in contrast to 7% (1/15) seen in microsatellite instability high colorectal carcinomas.
|
30443012 |
2019 |
|
Endometrial Carcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
These results demonstrate a marked difference between hereditary nonpolyposis colorectal cancer-related CRCs and ECs and suggest that the development of the latter tumors is selectively associated with the MSH2/MSH6 protein complex deficiency.
|
11306449 |
2001 |