Colon Carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
MSH6 gene pathogenic variant identified in familial pancreatic cancer in the absence of colon cancer.
|
31851094 |
2020 |
Colon Carcinoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Immunostaining showed that the colon cancer was positive for CDX2, SATB2, had a loss of PMS2 and intact expression of MLH1, MSH2 and MSH6, negative for AMACR, while the prostate cancer was positive for AMACR, had intact expression of PMS2, MLH1, MSH2 and MSH6, and negative for CDX2 and SATB2.
|
30061258 |
2018 |
Colon Carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
The expression of hMLH1, hMSH2, hMSH6, and hPMS2 in the resected tumor tissues was examined by SP immunohistochemistry, in order to analyze the relationship between defective DNA MMR (dMMR) and the clinico-pathological features and prognosis of colon cancer.
|
27706583 |
2016 |
Colon Carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
This study included 1966 (56% female) carriers of an MMR gene mutation (719 MLH1, 931 MSH2, 211 MSH6 and 105 PMS2) who were recruited from the USA, Canada, Australia and New Zealand into the Colon Cancer Family Registry between 1997 and 2012.
|
27063605 |
2016 |
Colon Carcinoma
|
0.100 |
GeneticVariation
|
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 |
Colon Carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The most common hereditary colon cancer susceptibility condition, Lynch syndrome (LS), previously known as hereditary nonpolyposis colorectal cancer, is an autosomal dominant condition caused by a germline mutation in 1 of 4 DNA mismatch repair (MMR) genes: MLH1, MSH2, MSH6, or PMS2.
|
24051481 |
2014 |
Colon Carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Here, we take a step toward an analogous system for the mismatch repair (MMR) genes (MLH1, MSH2, MSH6, and PMS2) that confer colon cancer susceptibility in Lynch syndrome by calibrating in silico tools to estimate prior probabilities of pathogenicity for MMR gene missense substitutions.
|
22949387 |
2013 |
Colon Carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We obtained data from the Colon Cancer Family Registry for a cohort of 127 women who had a diagnosis of endometrial cancer and who carried a mutation in one of four MMR genes (30 carried a mutation in MLH1, 72 in MSH2, 22 in MSH6, and 3 in PMS2).
|
23385444 |
2013 |
Colon Carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A total of 927 MMR gene mutation carriers (360 MLH1, 442 MSH2, 85 MSH6 and 40 PMS2) from 315 families enrolled in the Colon Cancer Family Registry, were genotyped for the single nucleotide polymorphisms (SNPs): rs16892766 (8q23.3), rs6983267 (8q24.21), rs719725 (9p24), rs10795668 (10p14), rs3802842 (11q23.1), rs4444235 (14q22.2), rs4779584 (15q13.3), rs9929218 (16q22.1), rs4939827 (18q21.1), rs10411210 (19q13.1) and rs961253 (20p12.3).
|
23434150 |
2013 |
Colon Carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
This retrospective cohort study comprised 79 carriers of germline mutation in a MMR gene (18 MLH1, 55 MSH2, 4 MSH6, and 2 PMS2) from the Colon Cancer Family Registry who had had a proctectomy for index rectal cancer.
|
23358792 |
2013 |
Colon Carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Risk of metachronous CRC was estimated for 382 MMR gene mutation carriers (172 MLH1, 167 MSH2, 23 MSH6 and 20 PMS2) from the Colon Cancer Family Registry, who had surgery for their first colon cancer, using retrospective cohort analysis.
|
21193451 |
2011 |
Colon Carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Immunohistochemical analysis of the patient's colon carcinoma and his GBM both revealed loss of the mismatch repair proteins mutS homolog 2 (MSH2) and mutS homolog 6 (MSH6).
|
21288634 |
2011 |
Colon Carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
We estimated the association between BMI at age 18-20 years and endometrial cancer risk for mismatch repair gene mutation carriers and, as a comparison group, noncarriers using 601 female carriers of a germline mutation in a mismatch repair gene (245 MLH1, 299 MSH2, 38 MSH6, and 19 PMS2) and 533 female noncarriers from the Colon Cancer Family Registry using a weighted Cox proportional hazards regression.
|
21422863 |
2011 |
Colon Carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The objective of our investigation was to evaluate associations between the MSH6 G39E (116G>A) polymorphism and CpG island methylator phenotype (CIMP) and BRAF V600E mutations in tumors from a sample of 1048 individuals with colon cancer and 1964 controls from Utah, Northern California, and Minnesota.
|
19582761 |
2009 |
Colon Carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The MSH6 39Glu allele was associated with increased risk of colon cancer among men (Gly/Glu or Glu/Glu vs Gly/Gly, OR 1.27; 95% CI 1.04 to 1.54).
|
18523027 |
2009 |
Colon Carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The C-allele of the IVS4-101G>C polymorphism in hMSH6 was associated with an increased risk of colon cancer (OR 1.34; 95% CI 1.03-1.74).
|
18851982 |
2008 |
Colon Carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Effect of exogenous MSH6 and POLD1 expression on the mutation rate of the HPRT locus in a human colon cancer cell line with mutator phenotype, DLD-1.
|
14767555 |
2004 |
Colon Carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To evaluate this possibility, we treated three colon cancer cell lines that are either proficient in mismatch repair (MMR) [SW480 (MMR wild type)] or deficient in MMR [HCT116 (hMLH1 mutant) and HCT15 (hMSH6 mutant)] with three cycles of BG+BCNU.
|
12036916 |
2002 |
Colon Carcinoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Expression of the hMSH6 mismatch-repair protein in colon cancer and HeLa cells.
|
11971198 |
2002 |
Colon Carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Three human colon cancer cell lines were used, SW480 cells, which are wild-type for mismatch repair genes and have mutated p53, HCT116 cells, which are mutant in hMLH1 and wild-type for p53, and HCT15 cells, which are mutant in hMSH6 and mutant in p53 as well.
|
12231545 |
2002 |
Colon Carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We conclude that germ-line involvement of MSH6 and MSH3 is rare and that other genes are likely to account for a majority of MSH2-, MLH1-mutation negative families with nonpolypotic colon cancer.
|
11245474 |
2001 |
Colon Carcinoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Effect of hMSH6 cDNA expression on the phenotype of mismatch repair-deficient colon cancer cell line HCT15.
|
10190549 |
1999 |
Colon Carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We have also recently shown the frequent presence of frameshift mutations in (A)8 and (C)8 tracts within the hMSH3 and hMSH6 DNA mismatch repair genes in sporadic colon cancer of the MMP.
|
9500462 |
1998 |