Another group of proteins, the MLH1-PMS2 dimer, then binds to the MSH2 dimer and repairs the errors by removing the mismatched DNA and replicating a new segment. (medlineplus.gov)
Use of Anti-MSH2 is optimized when paired in an IHC panel with antibodies against MSH6, MLH1, and PMS2. (genomeme.ca)
Seven women (5.9%) had a germline mutation: 4 had MLH1 (mutL homolog 1), 2 had MSH6 (mutS homolog 6), and 1 had MSH2 (mutS homolog 2). (mcmaster.ca)
Hereditary non-polyposis colorectal cancer is an autosomal dominant condition due to germline mutations in DNA-mismatch-repair genes, in particular MLH1, MSH2 and MSH6. (amsterdamumc.org)
BRAF-V600E mutations were analysed by automatic sequencing in 38 tumors from HNPCC families with germline mutations in the MSH6 gene and also in HNPCC (suspected) families that do not have mutations in the MMR genes MLH1, MSH2 and MSH6. (ox.ac.uk)
The detection of a positive BRAF-V600E mutation in a colorectal cancer suggests a sporadic origin of the disease and the absence of germline alterations of MLH1, MSH2 and also of MSH6. (ox.ac.uk)
This protein forms heterodimers with the gene product of the mutL homolog 1 (MLH1) gene to form the MutL-alpha heterodimer. (nih.gov)
Neoplasm Proteins2
Some neoplasm proteins are tumor antigens (ANTIGENS, NEOPLASM), i.e. they induce an immune reaction to their tumor. (lookformedical.com)
Many neoplasm proteins have been characterized and are used as tumor markers (BIOMARKERS, TUMOR) when they are detectable in cells and body fluids as monitors for the presence or growth of tumors. (lookformedical.com)
PMS21
Diabetes mellitus impacts on expression of DNA mismatch repair protein PMS2 and tumor microenvironment in pancreatic ductal adenocarcinoma. (nih.gov)
Mismatch repair protein2
Here, we report positional cloning of Pairing homoeologous 2 (Ph2) and functional validation of the wheat DNA mismatch repair protein MSH7-3D as a key inhibitor of homoeologous recombination, thus solving a half-century-old question. (nature.com)
BACKGROUND: Immunohistochemistry (IHC) for mismatch repair protein expression, microsatellite instability (MSI) testing, tumor morphology, and family history were compared to determine which screening strategy is superior in identifying Lynch syndrome (LS) in unselected women with newly diagnosed endometrial cancer (EC) who have undergone universal germline mutation testing. (mcmaster.ca)
Humans1
Chromosome 2 is one of the twenty-three pairs of chromosomes in humans. (wikipedia.org)
Genes6
So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. (wikipedia.org)
The following is a partial list of genes on human chromosome 2. (wikipedia.org)
With such models, the interactions between genes, proteins or other multiomics data can be captured and studied, and provide valuable insight into their functional relationships. (biomedcentral.com)
The resulting hubs (i.e. genes or proteins with a high number of interactions) may again be used to identify central genes, functionally important proteins or pathway initiators, and thus potential drug targets [ 1 ]. (biomedcentral.com)
One setting where integrative network analysis has a lot of potential is when there are two types of data, e.g. measured mRNA and protein, associated with the same genes. (biomedcentral.com)
Using the ONCOMINE and Gene Expression Omnibus (GEO) databases, we compared the gene expression of 24 importins and exportins in 20 cancer microarray datasets and then analyzed the survival of the candidate genes, CSE1L (Chromosome Segregation Like 1 protein/CAS) was finally selected. (researchsquare.com)
Gene15
Chromosome 2 contains the HOXD homeobox gene cluster. (wikipedia.org)
Jacob W. Ijdo The following are some of the gene count estimates of human chromosome 2. (wikipedia.org)
Networks may be constructed from data found by high-throughput gene expression profiling technologies, such as microarray or RNA-seq [ 2 ]. (biomedcentral.com)
A specific mRNA molecule is transcribed from each gene, which then can be translated into a specific protein. (biomedcentral.com)
Thus, each gene is associated with a specific mRNA sequence and protein. (biomedcentral.com)
The MSH2 gene provides instructions for making a protein that plays an essential role in repairing DNA. (medlineplus.gov)
The MSH2 protein joins with one of two other proteins, MSH6 or MSH3 (each produced from a different gene), to form a two-protein complex called a dimer. (medlineplus.gov)
MSH2 gene variants result in near or complete loss of MSH2 protein production. (medlineplus.gov)
MSH2 gene variants involved in Lynch syndrome may cause the production of an abnormally short or inactive MSH2 protein or prevent the production of any protein from one copy of the gene. (medlineplus.gov)
Because there is some functional MSH2 protein produced from the normal copy of the gene, mismatch repair activity in Lynch syndrome is reduced but not absent, as it is in CMMRD syndrome (described above). (medlineplus.gov)
This protein is commonly associated with hereditary non-polyposis colorectal cancer, and mutations in this gene are correlated with the development of sporadic colorectal carcinoma. (genomeme.ca)
The SET domain containing 2 histone lysine methyltransferase ( SETD2) gene encodes the functional domain of an enzyme that trimethylates histone H3 at lysine 36 (H3K36me3), which mediates MMR in a way that removes lesions associated with a persistently open chromatin structure in early replication, and preferentially safeguards active transcripts during replication by recruiting hMutSa which can quickly identify the mismatch to initiate the MMR reaction [ 15 , 16 ]. (biomedcentral.com)
The protein encoded by this gene is a key component of the mismatch repair system that functions to correct DNA mismatches and small insertions and deletions that can occur during DNA replication and homologous recombination. (nih.gov)
There is a DQHA(X)2E(X)4E motif found at the C-terminus of the protein encoded by this gene that forms part of the active site of the nuclease. (nih.gov)
The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. (lovd.nl)
In the past decade, the use of immune checkpoint inhibitors (ICIs) has revolutionized the treatment of a variety of tumors, including lung cancer, melanoma, colorectal cancer, and renal cell carcinoma [ 1 , 2 ]. (biomedcentral.com)
No mutations were detected in 14 tumors from HNPCC patients with germline mutations in MSH6. (ox.ac.uk)
Twenty-five percent of all lung tumors belong to the group of neuroendocrine tumors [ 2 ] including typical carcinoid (TC) and atypical carcinoid (AC), large-cell neuroendocrine cancer (LCNEC), and small-cell lung cancer (SCLC). (oncotarget.com)
Meiosis2
Proteínas reparadoras del ADN, que incluyen la proteína bacteriana de unión a las proteínas MutS que reparan errores de emparejamiento del ADN y sus homólogos eucariotas, que intervienen en la REPARACIÓN DEL EMPAREJAMIENTO INCORRECTO DEL ADN y en la recombinación del ADN durante la MEIOSIS. (bvsalud.org)
ZIP4 is a ZMM protein involved in homologous recombination and may act as a hub through physical interactions with components of the chromosome axis and other ZMMs 19 . (nature.com)
MRNA2
With our method, mRNA data are demonstrated to provide highly useful prior information for protein-protein interaction networks. (biomedcentral.com)
Export and import of mRNA and specific proteins from the nucleus is a key step in intracellular signaling and can lead to cell proliferation or apoptosis. (researchsquare.com)
Neoplasms1
Proteins whose abnormal expression (gain or loss) are associated with the development, growth, or progression of NEOPLASMS. (lookformedical.com)
Neoplastic2
Reports have shown Anti-MSH2 to be useful in the detection of the protein in a number of normal and neoplastic tissues, and for identifying a loss of MSH2 in tumours that are microsatellite-unstable. (genomeme.ca)
Abnormal expression of ONCOGENE PROTEINS is involved in neoplastic transformation, whereas the loss of expression of TUMOR SUPPRESSOR PROTEINS is involved with the loss of growth control and progression of the neoplasm. (lookformedical.com)
It encodes a large, nuclear protein that is an essential component of DNA repair pathways, suppressing the formation of gross chromosomal rearrangements. (lookformedical.com)
Pathway1
MutS Homolog 2 (MSH2) is a protein involved in the mismatch-repair pathway. (genomeme.ca)
Chromosome7
Chromosome 2 is the second-largest human chromosome, spanning more than 242 million base pairs and representing almost eight percent of the total DNA in human cells. (wikipedia.org)
Human chromosome 2 is a result of an end-to-end fusion of two ancestral chromosomes. (wikipedia.org)
The evidence for this includes: The correspondence of chromosome 2 to two ape chromosomes. (wikipedia.org)
The closest human relative, the chimpanzee, has nearly identical DNA sequences to human chromosome 2, but they are found in two separate chromosomes. (wikipedia.org)
Normally a chromosome has just one centromere, but in chromosome 2 there are remnants of a second centromere in the q21.3-q22.1 region. (wikipedia.org)
These are normally found only at the ends of a chromosome, but in chromosome 2 there are additional telomere sequences in the q13 band, far from either end of the chromosome. (wikipedia.org)
We conclude that the locus cloned in cosmids c8.1 and c29B is the relic of an ancient telomere-telomere fusion and marks the point at which two ancestral ape chromosomes fused to give rise to human chromosome 2. (wikipedia.org)
Mismatches1
The MutL-alpha heterodimer possesses an endonucleolytic activity that is activated following recognition of mismatches and insertion/deletion loops by the MutS-alpha and MutS-beta heterodimers, and is necessary for removal of the mismatched DNA. (nih.gov)
Nucleus1
In normal cells the BRCA1 protein is localized in the nucleus, whereas in the majority of breast cancer cell lines and in malignant pleural effusions from breast cancer patients, it is localized mainly in the cytoplasm. (lookformedical.com)
Occur1
MutS has a conserved mismatch recognition domain characterized by GxFxE, or similar AMINO ACID MOTIFS that also occur in eukaryotic homologs such as MSH1, MSH6, and MSH8. (bvsalud.org)
Functional1
A decrease in functional MSH2 protein leads to an increase in unrepaired DNA errors during cell division. (medlineplus.gov)
Replication2
This protein helps fix errors that are made when DNA is copied (DNA replication) in preparation for cell division. (medlineplus.gov)
A shortage of this protein eliminates mismatch repair activity and prevents the proper repair of DNA replication errors. (medlineplus.gov)
The BRCA2 protein is an essential component of DNA repair pathways, suppressing the formation of gross chromosomal rearrangements. (lookformedical.com)
Description1
description of variant at protein level (following HGVS recommendations). (lovd.nl)
Compound1
Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity. (lovd.nl)
Molecular1
In parallel, much progress has been made in the understanding of the molecular and genetic basis of CRC[ 2 - 4 ]. (wjgnet.com)
Domain1
All MutS proteins also contain a highly-conserved ATP-binding domain and most have weak ATPase activity. (bvsalud.org)
Function1
An altered protein cannot perform its normal function. (medlineplus.gov)
Groups1
Familial polyposis syndromes are divided into 2 major groups based on the presence of adenomas or hamartomas. (medscape.com)