Recombinant Human DNA mismatch repair protein Msh6 (MSH6), partial

1. discover a translocation disrupting MLH1 and three mutations in MSH6 and PMS2 that increase endometrial, colorectal, brain and ovarian cancer risk PMID:28466842
2. Whole exome sequencing in triple negative breast cancer cases revealed MSH6 rs2020912 (MAF: 56.25% vs. 1.04%, OR 122.13, 95% CI 12.29-2985.48) are risk factors for triple negative breast cancer. PMID:30136158
3. CSE1L expression was correlated with MSH6 expression in tumor samples and was associated with poor prognosis in patients with osteosarcoma. Taken together, our results demonstrate that the CSE1L-MSH6 axis has an important role in osteosarcoma progression. PMID:28387323
4. our data suggests thatMSH6 Glu39Gly polymorphism is associated with the risk of developing sporadic colorectal cancer in polish population. Linkage to the female gender, onset above 60 years old and further increase of risk when combined with wild-type allele of PMS2 IVS1-1121C > PMID:28451866
5. Results from a study on gene expression variability markers in early-stage human embryos shows that is a putative expression variability marker for the 3-day, 8-cell embryo stage. PMID:26288249
6. hMSH6 Glu39Gly polymorphism is associated with the risk of developing colorectal cancer in the Polish population. PMID:29442465
7. Expression of MSH6 and MSH2 was positively associated with tumor volume doubling time. Gene expression was positively associated with ATR expression. Reduction of MSH6 and MSH2 expression at the messenger RNA and protein levels could be involved in direct Pituitary Adenoma proliferation by promoting cell-cycle progression or decreasing the rate of apoptosis through interference with the function of the ATR-Chk1 pathway. PMID:29342268
8. Our results suggest that increased expression of MSH6, or other MMR, may be a new mechanism contributing to the acquired resistance during TMZ therapy; and may serve as an indicator to the resistance in GBM. PMID:29366782
9. study to estimate frequency of point mutations and chromosomal rearrangements in 3 mismatch repair (MMR) genes MLH1, MSH2, and MSH6 among unselected patients with ovarian cancer; estimate that approximately 0.6% of unselected ovarian cancer patients have mutations in the MMR genes PMID:28176205
10. MSH6 frameshift variants incompletely segregate with the Lynch syndrome phenotype in two families. PMID:28481244
11. Patients with mutations 6 showed higher rate of achieving major molecular response than those<6 (P=0.0381). Mutations in epigenetic regulator, ASXL1, TET2, TET3, KDM1A and MSH6 were found in 25% of patients. TET2 or TET3, AKT1 and RUNX1 were mutated in one patient each. ASXL1 was mutated within exon 12 in three cases PMID:28452984
12. The MSH6 gene polymorphisms are likely to play an important role in the progression of AIDS in the northern Chinese population. PMID:27090025
13. MSH6 mutations contribute to colorectal cancer susceptibility in Algerian families with suspected Lynch syndrome. PMID:27468915
14. Neoadjuvant therapy in microsatellite-stable colorectal carcinoma induces concomitant loss of MSH6 and Ki-67 expression. PMID:28232158
15. High MSH6 expression is associated with the development of genetic instability and is linked to tumor aggressiveness and early PSA recurrence in prostate cancer. PMID:27803051
16. In path_MSH6 10-year survival was 84%, relative incidence of subsequent cancer compared with incidence of first cancer was slightly but insignificantly higher than cancer incidence in patients with Lynch syndrome without previous cancer. PMID:27261338
17. human Pol alpha interacts with MSH2-MSH6 complex PMID:27805738
18. In colorectal neoplasms, negative expression of the MMR proteins MLH1, MSH2 or MSH6 was seen in 15% (47 of 313) of the patients. Defect MLH1 was most common and detected in 12% of the cases. Defect MLH1 and MSH2 were identified in each patient's normal adjacent mucosa. PMID:27836416
19. A total of 201 unique disease-predisposing mismatch repair gene mutations were identified in 369 Lynch syndrome families. These mutations affected MLH1 in 40%, MSH2 in 36%, MSH6 in 18% and PMS2 in 6% of the families PMID:27601186
20. There is a positive correlation between the expressions of hMSH2 and hMSH6 between males (RHO=0.673 and p=0.001) and females with colorectal adenocarcinoma. PMID:27459116
21. Individuals with Lynch syndrome and double-mutants in MSH6 and MSH2 had normal MSH2 expression, whereas MSH6 immunoexpression was lost in all evaluable cases. PMID:26446363
22. we identified gene promoter methylation signatures (WT1, MSH6, GATA5 and PAX5) that are strongly correlated to, and can have a predictive value for the clinical outcome of oral squamous cell carcinoma patients PMID:27491556
23. In Lynch syndrome families, prostate cancer was associated with mutations in MSH6 with loss of the mismatch repair protein. PMID:27013479
24. Loss of MSH-2/MSH-6 expression was correlated with the right-colon location, poor and mucinous differentiation in colorectal adenocarcinoma. PMID:26097592
25. Heterozygous germline mutations in any of the mismatch repair (MMR) genes, MLH1, MSH2, MSH6, and PMS2, cause Lynch syndrome (LS), an autosomal dominant cancer predisposition syndrome. PMID:26544533
26. MSH2, MSH6, and EXO1 genes were overexpressed in gastroesophageal cancers. PMID:26215063
27. SNP rs1800934 and 12 rare variants in the mismatch repair gene MSH6 were also associated with cafe-au-lait macule count in neurofibromatosis type 1 patients. PMID:25329635
28. microsatellite instability-high and loss of MSH6 were found. Based on these results, genetic testing of MSH6 revealed a frame-shift mutation in codon 604 PMID:26805314
29. MutSalpha, proliferating cell nuclear antigen, and replication factor C activate MutLalpha endonuclease to remove the 1-nucleotide Okazaki fragment flaps PMID:26224637
30. We describe a kindred with multiple gastrointestinal malignancies where a novel MSH6 germline susceptibility variant was identified PMID:25380764
31. Heterogenous MSH6 loss is uncommon, usually caused by instability in MSH6 exon 5 polycytosine tract, and not associated with germline MSH6 mutation. PMID:26099011
32. immunohistochemical expression of MLH1, MSH2, and MSH6 in initial glioblastoma is not associated with patient survival PMID:24995467
33. The study evaluates the frequency and distribution of mutations in the MLH1, MSH2 and MSH6 genes within a cohort of families with Lynch syndrome in Cyprus. PMID:25133505
34. Somatic rearrangements in MSH2 and MSH6 are an important mechanism leading to hypermutation and microsatellite instability in advanced prostate cancer. PMID:25255306
35. Our database and literature searches retrieved 30 MLH1, 22 MSH2, 4 MSH6 and 9 PMS2 alternative transcripts, many predicted to introduce premature termination codons PMID:24989436
36. After a short turnaround time of less than 3 weeks, the diagnosis of CMMR-D could be confirmed by the identification of a homozygous 29-bp deletion in MSH6 (exon 6), which was confirmed by independent methods. PMID:25431869
37. We identified 11 previously unreported mutations in MSH6 in nine different glioma samples and in three oligodendrogliomas and two treatment-naive gliomas PMID:25078279
38. MSH6 founder mutations in Ashkenazi Jews with Lynch syndrome PMID:23990280
39. Some uterine carcinosarcomas show loss of MSH6. PMID:25083964
40. When controlling for surgical and pathologic factors, mismatch repair protein expression did not predict lymph node yield after colectomy for Colon cancer . PMID:25664706
41. The survival time of patients with osteosarcoma may be predicted by local expression of MSH6 and MSH2/6 in surgical primary tumor resections. PMID:25503122
42. isolated loss of expression of hMSH6 in the basal cell layer of oral carcinoma in situ lesions could potentially be a useful diagnostic biomarker for these lesions PMID:25352643
43. Results show that MSH6 and MSH2 expressions are downregulated by YB-1. PMID:24141788
44. DNA mismatch repair gene MSH6 implicated in determining age at natural menopause. PMID:24357391
45. We here demonstrate the causative role of the first germline mutation of MSH2, c.1249-1251 dupGTT (p.417V-418I dupV), associated with normal hMSH2 expression and lack of hMSH6 protein despite a normal MSH6 gene sequence PMID:25106712
46. Immunohistochemistry revealed loss of expression for MLH1, MSH2, MSH6, and PMS2 in 15, 21, 13, and 15 % of cases, respectively...we found a perfect association between MMR immunohistochemical analyses and MSI molecular investigation PMID:24643686
47. This report specifically focus on the protein expression profile and germline mutations of MSH6 and PMS2 genes in 50 Malaysian Lynch syndrome suspected patients. PMID:24072394
48. identified some statistical evidence for an association between the MSH6 G39E polymorphism and risk of cancer PMID:24622885
49. MSH6 protein expression can be a valuable marker to improve prognosis assessment in primary melanoma. PMID:24926095
50. three MSH6 variants found in suspected Lynch syndrome families, MSH6-P1087R, MSH6-R1095H and MSH6-L1354Q were found not to be disease causing when expressed in a mouse model PMID:24040339

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HGNC: 7329

UNIGENE: Hs.445052

KEGG: hsa:2956

STRING: 9606.ENSP00000234420

OMIM: 114500