Promoter methylation of the hMLH1 gene and protein expression of human mutL homolog 1 and human mutS homolog 2 in resected esophageal squamous cell carcinoma [PDF]
Aberrant expression of mismatch repair genes, such as human mutL homolog 1 (hMLH1) and human mutS homolog 2 (hMSH2), are common in some human cancers, and promoter methylation is believed to inactivate expression of hMLH1. We investigated whether promoter methylation is involved in loss of hMLH1 protein and whether aberrant expression of hMLH1 and ...
Ching Tzao +2 more
exaly +3 more sources
Characterization of a novel MSH2 variant in Lynch syndrome: clinical data and complementary bioinformatics assessment [PDF]
Objective To describe the clinical characteristics and perform a multi-step bioinformatics evaluation of the pathogenicity of NM_000251.3(MSH2):c.1894_1898del (p.Ile633Lysfs*9), an MSH2 germline variant detected in a family with Lynch syndrome. Methods
Anisse Marques Chami +5 more
doaj +2 more sources
Background: The development of colorectal carcinoma is a complicated multistep process that involves the accumulation of mutations in tumor suppressor genes and oncogenes.
Eshita Garg +5 more
doaj +3 more sources
Human MutY Homolog, a DNA Glycosylase Involved in Base Excision Repair, Physically and Functionally Interacts with Mismatch Repair Proteins Human MutS Homolog 2/Human MutS Homolog 6 [PDF]
Adenines mismatched with guanines or 7,8-dihydro-8-oxo-deoxyguanines that arise through DNA replication errors can be repaired by either base excision repair or mismatch repair. The human MutY homolog (hMYH), a DNA glycosylase, removes adenines from these mismatches. Human MutS homologs, hMSH2/hMSH6 (hMutSalpha), bind to the mismatches and initiate the
Dau-Yin Chang, A-Lien Lu
exaly +3 more sources
Clinical Discovery and Molecular Analysis of Two Novel MSH2 Gene Mutations (p.Ala771Gly and p.Val797Gly) in Saudi Colorectal Cancer Patients: Potential Implications for Tumorigenesis [PDF]
Background and Aims Colorectal cancer (CRC) is a serious global health problem, ranking first in men and third in women among all cancers worldwide.
Mahmood Rasool +10 more
doaj +2 more sources
Expression of PD-L1 in Microsatellite Instability High Tumours: A Retrospective Study [PDF]
Introduction: Microsatellite Instability (MSI) is the hallmark of Lynch syndrome/Constitutional Mismatch Repair Deficiency (CMMRD) and is also found in many sporadic cancers like colorectal cancer, endometrial, gastric, small intestine, urothelial ...
Dinisha Einstien +5 more
doaj +1 more source
The methylation status of the O6-methylguanine methyltransferase (MGMT) gene promoter has been widely accepted as a prognostic biomarker for treatment with the alkylator, temozolomide (TMZ). In the absence of promoter methylation, the MGMT enzyme removes
Sachita Ganesa +3 more
doaj +1 more source
Most tumors, including osteosarcomas, have deficiencies in DNA damage repair. However, the regulatory mechanisms underlying dysregulation of DNA damage repair genes are still being investigated.
Xun Chen +7 more
doaj +1 more source
OBJECTIVE: To determine the role of RNA-binding protein with serine-rich domain 1 (RNPS1) in uterine corpus endometrial carcinoma (UCEC), the role of RNPS1 knockdown in UCEC development in vitro and in vivo, and the relationship between RNPS1 and ...
Xiaojuan Liu +4 more
doaj +1 more source
Objectives: We sought to determine the immunohistochemistry expression of mismatch repair (MMR) and BRAF V600E proteins in sporadic young-onset colorectal cancer (CRC) and their association with clinicopathological features in the Kelantan population ...
Zubaidah Saizul +5 more
doaj +1 more source

