Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The rate of MSH6 mutations was 0.93% (4/429) when considering only cases with a personal or first-degree relative with LS-related cancer, and 0.17% (1/587) of cases with second-degree relative or no family history of LS-related cancers (p = 0.087).
|
30498870 |
2019 |
Malignant Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Using The Cancer Genome Atlas RNA-seq datasets with the greatest MSI-H incidence, i.e. those from colon (n = 208), stomach (n = 269), and endometrial (n = 241) cancers, we trained an algorithm to predict tumor MSI from under-expression of the mismatch repair genes MLH1, PMS2, MSH2, and MSH6 and from 10 additional genes with strong pan-cancer associations with tumor hypermutation.
|
30665466 |
2019 |
Malignant Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Prediction of MLH1, MSH2, and MSH6 (PREMM<sub>1,2,6</sub>) is a web-based tool that analyzes individuals' personal/family histories of cancer to quantify their likelihood of carrying a germline mutation associated with Lynch syndrome.
|
28668538 |
2018 |
Malignant Neoplasms
|
0.100 |
Biomarker
|
group |
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 |
Malignant Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Cox proportional hazards modeling was used to investigate the factors correlating with early-onset CRC diagnosis, using clinical data such as gender, tobacco use, alcohol consumption, body mass index, gene mutation (MLH1, MSH2 vs MSH6), and family cancer history.
|
29574523 |
2018 |
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Specifically, individuals with MSH6 mutations could be offered cancer surveillance from a later age.
|
28772289 |
2017 |
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We show that the stability of the MSH2/MSH6 heterodimer is severely perturbed, causing attenuated MMR in in vitro assays and cancer predisposition in mice.
|
27873144 |
2017 |
Malignant Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
MSH3, MSH6, APC and PIK3CA genes seem to play a bigger role in the path to cancer in this population.
|
28002797 |
2017 |
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Variant calling with standard settings identified the 10 mutations in the control set, with the exception of MSH6 c.255dupC using TruSight Cancer.
|
28050010 |
2017 |
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Constitutional mismatch repair deficiency syndrome is a cancer predisposition syndrome caused by autosomal recessive biallelic (homozygous) germline mutations in the mismatch repair genes (MLH1, MSH2, MSH6, and PMS2).
|
28562508 |
2017 |
Malignant Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
MSH6, MLH1 and PMS2 expression was detectable in 89.5%, 85.4% and 85.0% of cancers and was particularly strong in cancers with advanced pathological tumor stage (P < 0.0001 each), high Gleason grade (P < 0.0001 each), nodal metastasis (P ≤ 0.0083) and early biochemical recurrence (P < 0.0001).
|
27803051 |
2017 |
Malignant Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
miR-155 is an oncogenic miRNA that is often overexpressed in cancer and is associated with poor prognosis. miR-155 can target several DNA repair factors, including RAD51, MLH1, and MSH6, and its overexpression results in an increased mutation frequency in vitro, although the mechanism has yet to be fully understood.
|
26850462 |
2016 |
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
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 Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Concurrent reduction of three MMR genes namely hMLH1, hMSH6 and hMSH2 (34-85%, P<0.05) was observed in prostate cancer tissues. hMSH6 polymorphism rs1800932(Pro92Pro) conferred a borderline protection in cancer patients (OR = 0.33, 95% CI = 0.15-0.75).
|
25938433 |
2015 |
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Lynch syndrome (MSH2, MLH1, MSH6, PMS2), by contrast, is associated primarily with cancer risk.
|
26169059 |
2015 |
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We describe a kindred with multiple gastrointestinal malignancies where a novel MSH6 germline susceptibility variant was identified by exome sequencing after eluding serial routine testing in multiple affected members.
|
25380764 |
2015 |
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The present meta-analysis identified some statistical evidence for an association between the MSH6 G39E polymorphism and risk of cancer.
|
24622885 |
2014 |
Malignant Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
The p160 steroid receptor coactivators (SRCs) SRC-1, SRC-2 [nuclear receptor coactivator (NCOA)2], and SRC-3 [amplified in breast cancer 1 (AIB1)/NCOA3] are key pleiotropic "master regulators" of transcription factor activity necessary for cancer cell proliferation, survival, metabolism, and metastasis.
|
23559371 |
2013 |
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations in MSH6 have also been found but these do not always cause a clear cancer predisposition phenotype and MSH6-defective tumors often do not show the standard characteristics of MMR deficiency, such as microsatellite instability.
|
24040339 |
2013 |
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Cancer data from 1980 to 2007 were obtained from the Familial Gastrointestinal Cancer Registry in Toronto for 321 persons with known MMR mutations: mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) (MLH1); mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) (MSH2); mutS homolog 6 (E. coli) (MSH6); and PMS2 postmeiotic segregation increased 2 (S. cerevisiae) (PMS2).
|
22883484 |
2013 |
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We investigated the clinical and molecular features of the MSH6 variants, such as the family cancer history, pathological findings, immunohistochemistry, methylation status of the MLH1 promoter and BRAF mutation in the colorectal tumor.
|
24100870 |
2013 |
Malignant Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
We present a deficient MMR system, in a PJS patient, which demonstrated low mRNA levels of hMSH6 and hPMS2 and an increasing MMR deficiency from the non-dysplastic lesion to hamartomatous polyp of PJS with a high risk of cancer.
|
23677888 |
2013 |
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Whole-exome capture and massively parallel sequencing combined with homozygosity mapping identified a homozygous novel mutation in the MSH6 gene that leads to constitutional mismatch repair deficiency syndrome and increased cancer risk.
|
22493294 |
2012 |
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The predicted truncation from a cancer-associated variant of the MSH2 initiation codon alters activity of the MSH2-MSH6 mismatch repair complex.
|
21837758 |
2012 |
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The inactivation of an MMR gene (MSH2, MSH6, MLH1, or PMS2) with an inherited mutation causes Lynch syndrome (LS), a dominant susceptibility to cancer.
|
22581703 |
2012 |