What kind of gene is MSH2?
tumor suppressor gene
MSH2 is a tumor suppressor gene and more specifically a caretaker gene that codes for a DNA mismatch repair (MMR) protein, MSH2, which forms a heterodimer with MSH6 to make the human MutSα mismatch repair complex. It also dimerizes with MSH3 to form the MutSβ DNA repair complex.
What is MSH2 gene mutation?
MSH2 gene mutations result in near or complete loss of MSH2 protein production. A shortage of this protein eliminates mismatch repair activity and prevents the proper repair of DNA replication errors. These errors accumulate as the abnormal cells continue to divide.
What causes MSH2 mutation?
A Novel Splice-Site Mutation in MSH2 Is Associated With the Development of Lynch Syndrome. Lynch syndrome (LS) is an inherited autosomal dominant disorder caused by germline mutations of mismatch repair (MMR) genes, including MSH2, MSH6, PMS2, and MLH1.
What does a positive MSH2 mean?
MSH2 mutation. Your testing shows that you have a pathogenic mutation or a variant that is likely pathogenic in the MSH2 gene. 2. Lynch syndrome. People with MSH2 mutations have Lynch syndrome, previously known as hereditary non-polyposis colorectal cancer (HNPCC).
What is MSH2 positive?
What is STK11 gene?
The STK11 gene (also called LKB1) provides instructions for making an enzyme called serine/threonine kinase 11. This enzyme is a tumor suppressor, which means that it helps keep cells from growing and dividing too fast or in an uncontrolled way.
What is the MLH1 gene?
The MLH1 gene provides instructions for making a protein that plays an essential role in repairing DNA. This protein helps fix errors that are made when DNA is copied (DNA replication) in preparation for cell division.
Can I take a genetic test to identify an MSH2 mutation?
Yes, you can take a genetic test to identify an MSH2 mutation. You might consider testing if your relatives have gene mutations, you develop an MSH2-related cancer at a young age, you have a family history of MSH2-related cancers, or you have other risk factors. You’ll be asked to provide a blood or saliva sample that’s analyzed in the lab.
How does the MSH2 gene affect cancer risk?
Your MSH2 gene normally helps prevent cancers. A mutation in this gene causes it to stop working like it should. This increases your risk for certain types of cancers. What is my cancer risk if I have an MSH2 mutation? If you have a mutation in the MSH2 gene, this means you have a condition called Lynch syndrome.
What is the function of MSH2 protein?
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. This complex identifies locations on the DNA where errors have been made during DNA replication.
What is the function of MLH1 PMS2 dimer?
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. The MSH2 gene is one of a set of genes known as the mismatch repair (MMR) genes.