|
polyps
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
His sole offspring, a 25-year-old man, was negative for a pathogenic variant in MSH6 and had no polyps on colonoscopy.
|
30844969 |
2019 |
|
Malignant neoplasm of pharynx
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Here we describe a patient diagnosed with a germline mutation in the MMR gene MSH6 who developed an oral pharynx cancer.
|
31445773 |
2019 |
|
Malignant neoplasm of ureter
|
0.010 |
Biomarker
|
disease |
BEFREE |
Immunohistochemical staining showed the absence of both MSH2 and MSH6 proteins in the ureter cancer and other available cancer tissue specimens.
|
30882153 |
2019 |
|
Undifferentiated carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
The mass recurred 2 years later, and she underwent endoscopic endonasal biopsy demonstrating an undifferentiated carcinoma of the sella with MSH2 and MSH6 loss.
|
31491579 |
2019 |
|
Lip and Oral Cavity Carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
All the reviewed works were unanimous in recognizing the veracity and complexity of the Genomic Repair System, also called Mismatch Repair System, confirming the participation of repair gene proteins (such as hMSH2 and hMSH6) in patients with oral cancer and even of lesions that are susceptible to malignization.
|
31502267 |
2019 |
|
Panhypopituitarism
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
A 56-year-old female with LS due to MSH2 and MSH6 mutations presented with panhypopituitarism and a sellar mass.
|
31491579 |
2019 |
|
Oropharyngeal disorders
|
0.010 |
Biomarker
|
group |
BEFREE |
The present study aims to conduct a systematic review of the literature on the expression of the repair genes hMSH2 and hMSH6 in patients with SCC in the mouth and oropharyngeal region.
|
31502267 |
2019 |
|
Ureter Carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Immunohistochemical staining showed the absence of both MSH2 and MSH6 proteins in the ureter cancer and other available cancer tissue specimens.
|
30882153 |
2019 |
|
Metastatic Prostate Carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
The purpose of this article is to provide a review of principles of genetic testing in prostate cancer and highlight the significance of clinical genetic testing of BRCA1/2 and other genes (CHEK2, HOXB13, PALB2), including Lynch syndrome genes (MLH1, MSH2, MSH6, and PMS2) in men with metastatic prostate cancer.
|
30681994 |
2019 |
|
Metastasis from malignant tumor of prostate
|
0.010 |
Biomarker
|
disease |
BEFREE |
The purpose of this article is to provide a review of principles of genetic testing in prostate cancer and highlight the significance of clinical genetic testing of BRCA1/2 and other genes (CHEK2, HOXB13, PALB2), including Lynch syndrome genes (MLH1, MSH2, MSH6, and PMS2) in men with metastatic prostate cancer.
|
30681994 |
2019 |
|
Undifferentiated round cell sarcoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Ewing-like sarcoma/undifferentiated round cell sarcoma in an infant with APC and MSH6 variation: A case report.
|
31702654 |
2019 |
|
Barrett Esophagus
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
There was a strong positive correlation between MLH1 and PMS2 expression (Spearman ρ 0.97; P<0.001) and between MSH2 and MSH6 expression (Spearman ρ 0.90, P<0.001) in the entire sample and in all BE groups.
|
29972732 |
2018 |
|
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 |
|
Lymphoid leukemia
|
0.010 |
Biomarker
|
disease |
BEFREE |
MSH6 haploinsufficiency at relapse contributes to the development of thiopurine resistance in pediatric B-lymphoblastic leukemia.
|
29449434 |
2018 |
|
Obesity
|
0.010 |
Biomarker
|
disease |
BEFREE |
In comparison to the non-obese controls, we observed significant DMRs in CRC for genes involved in tumorigenesis including <i>MLH3, MSH2</i>, <i>MSH6, SEPT9, GNAS</i>; and glucose transporter genes associated with obesity and diabetes including <i>SLC2A1/GLUT1,</i> and <i>SLC2A3/GLUT3</i> that were reported on methylation being modified in cancer tissues.
|
29876008 |
2018 |
|
Squamous cell carcinoma of esophagus
|
0.010 |
Biomarker
|
disease |
BEFREE |
The MSI-H was observed in an ESCC/CM patient that presents lack of MSH6 immunostaining corroborating deficiency in MMR pathway.
|
29873509 |
2018 |
|
Desmoplastic Medulloblastoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Diagnostic challenges in a child with early onset desmoplastic medulloblastoma and homozygous variants in MSH2 and MSH6.
|
29302048 |
2018 |
|
Endometrial adenocarcinoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
We report the case of a woman with an early-onset endometrial adenocarcinoma who was suspected to be affected with Lynch syndrome based on tumor dMMR phenotype (MSI associated with loss of expression of MSH2 and MSH6 proteins).
|
28819700 |
2018 |
|
Endocervical adenocarcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
All patients surgically treated for FIGO stage IB-IIA usual type AC (1990-2011, n = 82) were retrospectively reviewed and classified into pattern A, B or C. Additional immunohistochemical analyses were performed for p53, MSH6, and PMS2.
|
30262404 |
2018 |
|
Single tumor
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
The Concordant patients showed concurrent MLH1/PMS2 loss (n=3), concurrent MSH2/MSH6 loss (n=4) and isolated MSH6 loss (n=2) in both tumors, whereas the Discordant patients showed concurrent MLH1/PMS2 loss (n=2), isolated PMS2 loss (n=2) and isolated MSH6 loss (n=2) in a single tumor.
|
28877066 |
2018 |
|
Endocervical Carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
All patients surgically treated for FIGO stage IB-IIA usual type AC (1990-2011, n = 82) were retrospectively reviewed and classified into pattern A, B or C. Additional immunohistochemical analyses were performed for p53, MSH6, and PMS2.
|
30262404 |
2018 |
|
Precursor Cell Lymphoblastic Leukemia Lymphoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
MSH6 haploinsufficiency at relapse contributes to the development of thiopurine resistance in pediatric B-lymphoblastic leukemia.
|
29449434 |
2018 |
|
Intellectual Disability
|
0.010 |
Biomarker
|
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 |
|
Choroid Plexus Carcinoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
To our knowledge, this is the first case report of CPC in an adult patient with a germline MSH6 mutation.
|
28460341 |
2017 |
|
Familial Colorectal Cancer Type X
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Targeted sequencing of 36 known or putative CRC susceptibility genes was conducted for 1231 CRC cases from five subsets: (1) Familial Colorectal Cancer Type X (<i>n</i> = 153); (2) CRC unselected by tumor immunohistochemical or microsatellite stability testing (<i>n</i> = 548); (3) young onset (age <50 years) (<i>n</i> = 333); (4) proficient mismatch repair (MMR) in cases diagnosed at ≥50 years (<i>n</i> = 68); and (5) deficient MMR CRCs with no germline mutations in MLH1, MSH2, MSH6, or PMS2 (<i>n</i> = 129).
|
28944238 |
2017 |