|
Colorectal Carcinoma
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
We have analyzed the expression of the MSH3 and MSH6 proteins by immunohistochemistry in 31 colorectal carcinomas in which MLH1 was inactivated.
|
14871813 |
2004 |
|
Colorectal Carcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Although not statistically significant, none of the MSH6 gene mutation carriers were diagnosed with metachronous CRC.
|
27766559 |
2017 |
|
Colorectal Carcinoma
|
0.600 |
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 |
|
Colorectal Carcinoma
|
0.600 |
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 |
|
Colorectal Carcinoma
|
0.600 |
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 |
|
Colorectal Carcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Inherited factors account for around one third of all colorectal cancers (CRCs) and include rare high penetrance mutations in APC, MSH2, MSH6, and POLE.
|
23585368 |
2013 |
|
Colorectal Carcinoma
|
0.600 |
Biomarker
|
disease |
BEFREE |
Most tumors that lose MSH6 will not be detected in screens for MSI; CRC screening might be modified to identify more patients with Lynch syndrome.
|
20655395 |
2010 |
|
Colorectal Carcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
No CRC was found in patients with variants in MSH6 or PMS2 over the entire follow-up period.
|
31470178 |
2019 |
|
Colorectal Carcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Microsatellite instability analysis combined with immunohistochemistry of mismatch repair proteins adequately detects potential MSH6 mutation carriers among MSI-L colorectal cancers.
|
25432668 |
2015 |
|
Colorectal Carcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in hMSH6 alone are not sufficient to cause the microsatellite instability in colorectal cancer cell lines.
|
10674020 |
1999 |
|
Colorectal Carcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Our data confirm that, regardless of the type of families and the tumor phenotype, hPMS1, hPMS2, and hMSH6 germline mutations are rare in familial aggregation of colorectal cancers.
|
10480359 |
1999 |
|
Colorectal Carcinoma
|
0.600 |
Biomarker
|
disease |
BEFREE |
We examined 118 Japanese patients (236 tumors) with synchronous CRC and 117 Japanese patients (117 tumors) with solitary CRC with immunohistochemical staining for TP53 and mismatch repair (MMR) protein (MLH1, MSH2, PMS2, and MSH6) and mutation analyses of KRAS and BRAF genes.
|
28877066 |
2018 |
|
Colorectal Carcinoma
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Loss of MSH6 expression is the predominant cause of MMR deficiency in early-onset CRC.
|
20924129 |
2010 |
|
Colorectal Carcinoma
|
0.600 |
GeneticVariation
|
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 |
|
Colorectal Carcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Similarly, women with mutations in the DNA mismatch repair genes, MLH1, MSH2 or MSH6, associated with the Lynch/Hereditary Non-Polyposis Colorectal Cancer (HNPCC) syndrome, have up to a 40-60% lifetime risk of both endometrial and colorectal cancer as well as a 9-12% lifetime risk of ovarian cancer.
|
17950381 |
2007 |
|
Colorectal Carcinoma
|
0.600 |
Biomarker
|
disease |
BEFREE |
We identified three significantly associated mRNA-miRNA pairs: BCL2 was positively associated with miR-16 and SMAD4 was positively associated with miR-567 in the CRC tissue, while MSH6 was positively associated with miR-142-5p in the normal tissue.
|
24895601 |
2014 |
|
Colorectal Carcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We also found that most colorectal cancers in the MSH6 mutation carrier were diagnosed after the age of 50 and were localized distally.
|
24100870 |
2013 |
|
Colorectal Carcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Germ-line msh6 mutations in colorectal cancer families.
|
10537275 |
1999 |
|
Colorectal Carcinoma
|
0.600 |
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 |
|
Colorectal Carcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
It is of note that mucinous tumour is one of the frequent histological features of colorectal cancer (CRC) in Lynch syndrome (LS), an autosomal dominantly inherited disease caused by a germline mutation of the DNA mismatch repair (MMR) genes including human mutL homolog 1 (MLH1), human mutS homolog 2 (MSH2), human mutS homolog 6 (MSH6), and postmeiotic segregation increased 2 (PMS2).
|
27938333 |
2016 |
|
Colorectal Carcinoma
|
0.600 |
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 |
|
Colorectal Carcinoma
|
0.600 |
Biomarker
|
disease |
BEFREE |
In a population-based sample of young-onset CRC cases, germline mutations in MLH1, MSH, and/or MSH6 were more prevalent than reported for CRC patients overall.
|
21056691 |
2011 |
|
Colorectal Carcinoma
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Telomere shortening and its potential correlation with clinicopathological predictive markers in sporadic colorectal cancer (CRC) with normal expression of mismatch repair (MMR) proteins (including Mlh1, Msh2, Pms2, and Msh6) and normal p53 expression was completely explored.
|
24495131 |
2014 |
|
Colorectal Carcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Median age at diagnosis of first CRC in MSH6 mutation families was 59 years compared to 45 years in both MLH1 and MSH2 mutation families.
|
17939062 |
2008 |
|
Colorectal Carcinoma
|
0.600 |
Biomarker
|
disease |
BEFREE |
LS was suspected due to a positive family history of CRC and because of MSI-H and MSH2-MSH6 deficiency on IHC in the sebaceous gland carcinoma.
|
24518836 |
2014 |