Up-regulation of MSH6 is associated with temozolomide resistance in human glioblastoma.
Sign Up to like & getrecommendations! Published in 2018 at "Biochemical and biophysical research communications"
DOI: 10.1016/j.bbrc.2018.01.093
Abstract: The impact of DNA mismatch repair (MMR) on resistance to temozolomide (TMZ) therapy in patients with glioblastoma (GBM) is recently reported but the mechanisms are not understood. We aim to analyze the correlation between MMR… read more here.
Keywords: msh6; regulation msh6; tmz; resistance ... See more keywords
Universal screening for Lynch syndrome in endometrial cancers: frequency of germline mutations and identification of patients with Lynch-like syndrome.
Sign Up to like & getrecommendations! Published in 2017 at "Human pathology"
DOI: 10.1016/j.humpath.2017.10.022
Abstract: Lynch syndrome (LS) is an inherited clinical syndrome characterized by a high risk of colorectal, endometrial (lifetime risk of up to 60%), ovarian, and urinary tract cancers. The diagnosis is confirmed by identification of germline… read more here.
Keywords: msh6; loss; identification; syndrome ... See more keywords
HGG-44. DEFECTS OF MISMATCH REPAIR PROTEINS IN PEDIATRIC HIGH GRADE GLIOMAS
Sign Up to like & getrecommendations! Published in 2020 at "Neuro-Oncology"
DOI: 10.1093/neuonc/noaa222.325
Abstract: Abstract Hetero- and homozygous germline mutations of the mismatch repair genes MLH1, PMS2, MSH2 and MSH6 cause Lynch and constitutional mismatch repair (CMMRD) cancer predisposition syndrome, respectively. Affected CMMRD individuals are at risk to develop… read more here.
Keywords: msh2 msh6; msh6; mismatch repair; cmmrd ... See more keywords
Abstract 1907: Unique and novel deleterious MSH6 mutation among African American patients with colorectal cancer
Sign Up to like & getrecommendations! Published in 2023 at "Cancer Research"
DOI: 10.1158/1538-7445.am2023-1907
Abstract: Background: Colorectal cancer (CRC) incidence and mortality in African Americans (AA) is higher compared to Caucasians (CAU). It has also been reported that the disparity is due to differences in the mutation spectrum particularly germline… read more here.
Keywords: msh6 protein; msh6; msh6 mutation; colorectal cancer ... See more keywords
Abstract 5236: Functional analysis of variants of uncertain significance of the MSH6 mismatch repair gene
Sign Up to like & getrecommendations! Published in 2023 at "Cancer Research"
DOI: 10.1158/1538-7445.am2023-5236
Abstract: Lynch syndrome (LS) is a hereditary condition that increases patients’ lifetime risk of cancer, primarily colorectal cancer. LS is caused by germline mutations in mismatch repair (MMR) genes, MLH1, MSH2, MSH6, and PMS2. Identification of… read more here.
Keywords: mismatch repair; msh6; significance; variants uncertain ... See more keywords
MSH6 haploinsufficiency at relapse contributes to the development of thiopurine resistance in pediatric B-lymphoblastic leukemia
Sign Up to like & getrecommendations! Published in 2018 at "Haematologica"
DOI: 10.3324/haematol.2017.176362
Abstract: Survival of children with relapsed acute lymphoblastic leukemia is poor, and understanding mechanisms underlying resistance is essential to developing new therapy. Relapse-specific heterozygous deletions in MSH6, a crucial part of DNA mismatch repair, are frequently… read more here.
Keywords: msh6; lymphoblastic leukemia; thiopurine; resistance ... See more keywords
Concurrent loss of MLH1, PMS2 and MSH6 immunoexpression in digestive system cancers indicating a widespread dysregulation in DNA repair processes
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Oncology"
DOI: 10.3389/fonc.2022.1019798
Abstract: Immunohistochemical analysis of mismatch repair (MMR) protein expression is widely used to identify tumors with a deficient MMR (dMMR). MMR proteins (MLH1/PMS2 and MSH2/MSH6) work as functional heterodimers, which usually leads to the loss of… read more here.
Keywords: msh6; mlh1 pms2; pms2 msh6; repair ... See more keywords
Incomplete Segregation of MSH6 Frameshift Variants with Phenotype of Lynch Syndrome
Sign Up to like & getrecommendations! Published in 2017 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms18050999
Abstract: Lynch syndrome (LS), the most frequent form of hereditary colorectal cancer, involves mutations in mismatch repair genes. The aim of this study was to identify mutations in MSH6 from 97 subjects negative for mutations in… read more here.
Keywords: msh6; segregation msh6; incomplete segregation; frameshift ... See more keywords
Classification of MSH6 Variants of Uncertain Significance Using Functional Assays
Sign Up to like & getrecommendations! Published in 2021 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms22168627
Abstract: Lynch syndrome (LS) is one of the most common hereditary cancer predisposition syndromes worldwide. Individuals with LS have a high risk of developing colorectal or endometrial cancer, as well as several other cancers. LS is… read more here.
Keywords: msh6; msh6 variants; functional assays; variants uncertain ... See more keywords
Identification and in silico Analysis of Nonsense SNPs of Human Colorectal Cancer Protein.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of oleo science"
DOI: 10.5650/jos.ess21313
Abstract: Colorectal cancer (CRC) is the third most prevalent disease in the world, with an estimated 1.2 million new cases each year. Spontaneous CRCs account for around 70% of all CRCs, are caused by somatic mutations.… read more here.
Keywords: silico; snps; msh6; colorectal cancer ... See more keywords