|
Abdominal Pain
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Abnormality of abdomen morphology
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Acute lymphocytic leukemia
|
0.020 |
Biomarker
|
disease |
BEFREE |
MSH6 haploinsufficiency at relapse contributes to the development of thiopurine resistance in pediatric B-lymphoblastic leukemia.
|
29449434 |
2018 |
|
Acute lymphocytic leukemia
|
0.020 |
Biomarker
|
disease |
BEFREE |
In order to investigate the possible relevance of mismatch repair to the chemosensitivty of blasts to 6MP, relative to normal tissues, we have measured the expression of the mismatch repair proteins MLH1, MSH2, PMS2 and MSH6 in blasts from children and adults with ALL and in normal bone marrows, using western blotting.
|
10500837 |
1999 |
|
Acute monocytic leukemia
|
0.010 |
Biomarker
|
disease |
BEFREE |
Burden testing identifies 13 cancer genes with significant enrichment of rare truncations, some associated with specific cancers (for example, RAD51C, PALB2 and MSH6 in AML, stomach and endometrial cancers, respectively).
|
26689913 |
2015 |
|
Adenocarcinoma
|
0.070 |
GeneticVariation
|
group |
BEFREE |
The colon adenocarcinomas had a mutation in MSH6 gene, DNA methylation in CDKN2A gene, and increased microsatellite instability (MSI), although these genetic changes were not recognized in either DLBCL or non-neoplastic UC mucosa.
|
20846793 |
2010 |
|
Adenocarcinoma
|
0.070 |
Biomarker
|
group |
BEFREE |
Compared with dMMR CRC, dMMR small intestinal adenocarcinomas more frequently demonstrated loss of MSH2 and MSH6 and less often showed loss of MLH1 and PMS2 (both P < .001).
|
30381262 |
2019 |
|
Adenocarcinoma
|
0.070 |
GeneticVariation
|
group |
LHGDN |
Hereditary and somatic DNA mismatch repair gene mutations in sporadic endometrial carcinoma.
|
11474654 |
2001 |
|
Adenocarcinoma
|
0.070 |
AlteredExpression
|
group |
BEFREE |
The 6 MMRD small bowel adenocarcinomas had the following expression pattern: 3 with concurrent loss of MSH2 and MSH6, 1 with isolated loss of MSH6, and 2 with concurrent loss of MLH1 and PMS2 in patients with a family history suggestive of genetic cancer susceptibility.
|
27258561 |
2017 |
|
Adenocarcinoma
|
0.070 |
AlteredExpression
|
group |
BEFREE |
The patient had intellectual disability and presented with a prostatic adenocarcinoma with an incidentally identified synchronous sigmoid adenocarcinoma that exhibited deficient MMR with an absence of MSH2 and MSH6 protein expression.Family history was unrevealing.
|
28555354 |
2018 |
|
Adenocarcinoma
|
0.070 |
Biomarker
|
group |
BEFREE |
Negative nuclear staining for both MSH2 and MSH6 proteins was found in 2.4% of colon adenocarcinomas.
|
29976631 |
2018 |
|
Adenocarcinoma
|
0.070 |
GeneticVariation
|
group |
BEFREE |
We analyzed 100 sporadic and 3 hereditary pancreatic ductal adenocarcinomas for MSI, and high-frequency MSI (MSI-H) and low-frequency MSI (MSI-L) tumors were further analyzed for frameshift mutations of possible target genes and for promoter methylation and mutation of DNA MMR genes, including hMLH1, hMSH2, hMSH3, and hMSH6 genes.
|
11306499 |
2001 |
|
Adenocarcinoma of colon
|
0.120 |
GeneticVariation
|
disease |
BEFREE |
We report on a case with constitutional mismatch repair deficiency caused by a novel MSH6 mutation leading to a T-cell lymphoma and colonic adenocarcinoma at six and 13 years of age, respectively.
|
20015892 |
2010 |
|
Adenocarcinoma of colon
|
0.120 |
AlteredExpression
|
disease |
BEFREE |
The patient's adenocarcinoma of the colon and IPMN of the pancreas showed identical immunohistochemical staining profiles with loss of expression of MSH2 and MSH6 proteins and high levels of microsatellite instability.
|
18987546 |
2009 |
|
Adenocarcinoma of colon
|
0.120 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Adenocarcinoma of large intestine
|
0.340 |
AlteredExpression
|
disease |
BEFREE |
In this study, we investigated the correlation between the clinicopathological features themselves and also the correlation between them and the immunohistochemical MLH-1, MSH-2, PMS-2, MSH-6 expressions in a total of 186 resection materials with colorectal adenocarcinoma between 2008 and 2012.
|
26097592 |
2015 |
|
Adenocarcinoma of large intestine
|
0.340 |
CausalMutation
|
disease |
CGI |
|
|
|
|
Adenocarcinoma of large intestine
|
0.340 |
Biomarker
|
disease |
BEFREE |
Immunohistochemistry for PMS2 and MSH6 alone can replace a four antibody panel for mismatch repair deficiency screening in colorectal adenocarcinoma.
|
20632815 |
2010 |
|
Adenocarcinoma of large intestine
|
0.340 |
AlteredExpression
|
disease |
BEFREE |
HMSH2 and HMSH6 gene expression profiles in colorectal adenocarcinoma in patients up to 50 years of age.
|
27459116 |
2016 |
|
Adenocarcinoma of large intestine
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
We identified the MSH6 gene pathogenic variant c.2194C>T, p.(Arg732Ter) in a family with hereditary pancreatic cancer without diagnosed cases of colorectal adenocarcinoma.
|
31851094 |
2020 |
|
Adenocarcinoma of lung (disorder)
|
0.300 |
Biomarker
|
disease |
CTD_human |
Using suppression subtractive hybridization and a microarray analysis to identify drug resistance-associated DNA repair-related genes, we found that the mRNA levels of ERCC1, MSH-3, MSH-6 and XPC were significantly increased in LADC patients.
|
21327329 |
2011 |
|
Adenocarcinoma of pancreas
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Adenocarcinoma of prostate
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
The patient had intellectual disability and presented with a prostatic adenocarcinoma with an incidentally identified synchronous sigmoid adenocarcinoma that exhibited deficient MMR with an absence of MSH2 and MSH6 protein expression.Family history was unrevealing.
|
28555354 |
2018 |
|
Adenocarcinoma, Endometrioid
|
0.010 |
Biomarker
|
disease |
BEFREE |
These results indicate that mutations in the mono-nucleotide tracts of hMSH3 and hMSH6 are infrequent in ovarian endometrioid adenocarcinomas, other mechanisms may play a more important role in the development of these tumors.
|
15547740 |
2004 |
|
Adenoma
|
0.080 |
Biomarker
|
group |
BEFREE |
All four adenomas showed retention of MLH1, MHS2 and MSH6 but complete loss of PMS2 in both low-grade and high-grade dysplasia areas.Two of the four adenomas were MSI-high, <i>BRAF V600E</i> wild type and were not <i>MLH1</i> methylated.
|
31649038 |
2019 |