Malignant tumor of colon
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
MSH6 gene pathogenic variant identified in familial pancreatic cancer in the absence of colon cancer.
|
31851094 |
2020 |
Malignant tumor of colon
|
0.200 |
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 |
Malignant tumor of colon
|
0.200 |
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 |
Malignant tumor of colon
|
0.200 |
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 |
Malignant tumor of colon
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The distributions of cancer deaths in 485 individuals from 67 families with LS (35, 30, and two families with MutL homologue 1 (MLH1), MSH2, and MSH6 gene mutations, respectively), obtained from the Registry of the Japanese Society for Cancer of the Colon and Rectum were analyzed.
|
27069191 |
2016 |
Malignant tumor of colon
|
0.200 |
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 |
Malignant tumor of colon
|
0.200 |
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 |
Malignant tumor of colon
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the mismatch repair (MMR) genes MSH2, MSH6, MLH1 and PMS2 are associated with Lynch Syndrome (LS), a familial predisposition to early-onset cancer of the colon and other organs.
|
24829445 |
2014 |
Malignant tumor of colon
|
0.200 |
Biomarker
|
disease |
BEFREE |
Prostate cancers (mean age at diagnosis = 62 ± SD = 8 years) from 32 MMR mutation carriers (23 MSH2, 5 MLH1 and 4 MSH6) enrolled in the Australasian, Mayo Clinic and Ontario sites of the Colon Cancer Family Registry were examined for clinico-pathologic features and MMR-deficiency (immunohistochemical loss of MMR protein expression and high levels of microsatellite instability; MSI-H).
|
25117503 |
2014 |
Malignant tumor of colon
|
0.200 |
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 |
Malignant tumor of colon
|
0.200 |
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 |
Malignant tumor of colon
|
0.200 |
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 |
Malignant tumor of colon
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry.
|
22949379 |
2013 |
Malignant tumor of colon
|
0.200 |
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 |
Malignant tumor of colon
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer.
|
23047549 |
2012 |
Malignant tumor of colon
|
0.200 |
Biomarker
|
disease |
BEFREE |
We prospectively followed a cohort of 446 unaffected carriers of an MMR gene mutation (MLH1, n = 161; MSH2, n = 222; MSH6, n = 47; and PMS2, n = 16) and 1,029 their unaffected relatives who did not carry a mutation every 5 years at recruitment centers of the Colon Cancer Family Registry.
|
22331944 |
2012 |
Malignant tumor of colon
|
0.200 |
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 |
Malignant tumor of colon
|
0.200 |
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 |
Malignant tumor of colon
|
0.200 |
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 |
Malignant tumor of colon
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The MSH6 Gly39Glu and MLH1 -93G>A polymorphisms were associated with risk of overall colon and MSI-positive colon cancers, respectively.
|
18523027 |
2009 |
Malignant tumor of colon
|
0.200 |
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 |
Malignant tumor of colon
|
0.200 |
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 |
Malignant tumor of colon
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
We show that the immunohistochemical pattern of expression of hMSH6 in normal colorectal crypts and in colon cancers differs significantly from that of the other MMR proteins, with a much lower percentage of replicating cells being hMSH6-positive.
|
11971198 |
2002 |
Malignant tumor of colon
|
0.200 |
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 |
Malignant tumor of colon
|
0.200 |
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 |