|
Endometrial Carcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Unusual staining patterns such as heterogeneous MSH6 staining have been reported in colorectal and endometrial cancers.
|
31783044 |
2020 |
|
Endometrial Carcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Immunohistochemistry (IHC) for DNA mismatch repair proteins MLH1, PMS2, MSH2, and MSH6 is used for microsatellite instability (MSI) screening in colorectal carcinoma (CRC) and endometrial carcinoma (EC).
|
31402167 |
2020 |
|
Endometrial Carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic MSH6 variants caused a sex-limited trait with high endometrial cancer risk but only modestly increased colorectal cancer risk in both genders.
|
31337882 |
2020 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Overall, 17/23 (74%) subjects carried LS-associated gene variants (MLH1: 10; MSH2: 4; MSH6: 2; PMS2: 1), with 2 alleles (MLH1 c.677G > T and MSH2 с.1906G > C) detected twice.
|
31491536 |
2020 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
Biomarker
|
disease |
BEFREE |
We describe a family with MSH6-dependent Lynch syndrome and familial pancreatic cancer and other tumours (gastric and endometrial), in the absence of colorectal neoplasia.
|
31851094 |
2020 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We present a case that developed metastatic CRC, which we diagnosed as LS in association with a very rarely seen PMS2 and MSH6 germline mutation.
|
31845022 |
2020 |
|
Turcot syndrome (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Metachronous Wilms Tumor, Glioblastoma, and T-cell Leukemia in an Child With Constitutional Mismatch Repair Deficiency syndrome due to Novel Mutation in MSH6 (c.2590G>T).
|
31815888 |
2019 |
|
Turcot syndrome (disorder)
|
0.800 |
Biomarker
|
disease |
BEFREE |
Cumulative colorectal cancer incidence was estimated in a cohort of PMS2- and MSH6-associated families, ascertained by the CMMRD phenotype of the index, by using mutation probabilities based on kinship coefficients as analytical weights in a proportional hazard regression on the cause-specific hazards.
|
31204389 |
2019 |
|
Turcot syndrome (disorder)
|
0.800 |
Biomarker
|
disease |
BEFREE |
Six (7%) tumors were p53 abnormal, 82 (91%) were p53 normal, and 2 (2%) tumors had MMR deficiency (1 MSH6 loss and 1 MSH2/6 loss; both were p53 normal).
|
31335355 |
2019 |
|
Endometrial Carcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Overall, 15% (7/50) of microsatellite instability high endometrial carcinomas showed isolated loss of MSH6 in contrast to 7% (1/15) seen in microsatellite instability high colorectal carcinomas.
|
30443012 |
2019 |
|
Endometrial Carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The three pathogenic variants included two colorectal cancers with MLH1 loss and high MSI and one endometrial cancer with MSH6 loss and microsatellite stability.
|
31386297 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
No CRC was found during follow-up of patients with Lynch syndrome carrying pathogenic variants in MSH6; advanced neoplasia developed over shorter follow-up time periods in patients with pathogenic variants in MLH1 or MSH2.
|
31470178 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.
|
30128536 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
By confirming that the tumor was not dMMR and not MSI-H, it was concluded that his oral pharynx cancer was sporadic, rather than LS-related, and other family members carrying the mutated MSH6 are unlikely to be at above-average risk for the development of oral cancers, as a result of the LS.
|
31445773 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Lynch syndrome (LS) is an autosomal dominant inherited disorder that is associated with an increased predisposition to certain cancers caused by loss-of-function mutations in one of four DNA mismatch repair (MMR) genes (MLH1, MSH2, MSH6, or PMS2).
|
30653781 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
Biomarker
|
disease |
BEFREE |
Thirteen variants were revealed in MLH1, MSH2, and MSH6, all genes previously linked to LS.
|
31297992 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel heterozygous large deletion of MSH6 gene in a Chinese family with Lynch syndrome.
|
30974197 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
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 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We have previously shown that even a partial expression decrease in MLH1, MSH2, or MSH6 suggests that heterozygous LS mutation carriers have MMR malfunction in constitutive tissues.
|
30946512 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Second, when we focused on Lynch syndrome (LS) with additional selected patients, 45 were identified to carry pathogenic mutations in MMR genes, with a higher frequency found in MSH2 and MSH6.
|
31054147 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
Biomarker
|
disease |
BEFREE |
Furthermore, isolated loss of MSH6 or PMS2 protein predicts LS.
|
30877237 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The cases demonstrated diffuse MLH1 loss associated with BRAF mutations and MLH1 promoter hypermethylation in keeping with sporadic dMMR, with presumed additional double hit mutations in MSH2+/-MSH6 rather than underlying LS.
|
30723092 |
2019 |
|
Endometrial Carcinoma
|
0.800 |
Biomarker
|
disease |
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 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
Biomarker
|
disease |
BEFREE |
Colon tissues were collected from patients with advanced adenomas, ≥4 nonadvanced adenomas, or CRC, and analyzed by immunohistochemistry to identify patients with loss of mismatch repair (MMR) proteins (MLH1, MSH2, MSH6, or PMS2): a marker of Lynch syndrome.
|
30063919 |
2018 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer.
|
29922827 |
2018 |