2023年7月15日 · This information explains how having a mutation in the MSH6 gene may affect you and your family.

The MSH6 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.

MSH6 or mutS homolog 6 is a gene that codes for DNA mismatch repair protein Msh6 in the budding yeast Saccharomyces cerevisiae. It is the homologue of the human "G/T binding protein," (GTBP) also called p160 or hMSH6 (human MSH6).

2024年9月6日 · MSH6 inherited mutations (Lynch Syndrome) may affect your options for cancer prevention, detection and treatment. FORCE is here to guide you.

MSH6 is a type of tumor suppressor gene known as a DNA mismatch repair gene. When working correctly, tumor suppressor genes help to prevent cancer by controlling the growth and division of cells. • People born with an MSH6 pathogenic variant have only one working copy of the MSH6 gene, so their risk for cancer is higher than average.

2024年9月6日 · People with an inherited MSH6 mutation may have an increased risk for other cancers. The exact risks for the following cancers are unknown: pancreatic cancer; sebaceous skin growths; female breast cancer; Research on how inherited mutations in the MSH6 gene affect cancer risk is ongoing.

2024年12月25日 · MSH6 (MutS Homolog 6) is a Protein Coding gene. Diseases associated with MSH6 include Lynch Syndrome 5 and Endometrial Cancer. Among its related pathways are DNA repair pathways, full network and Base excision repair. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and ATP hydrolysis activity.

2024年8月31日 · People with an MSH6 mutation who have been diagnosed with cancer may benefit from biomarker testing and may qualify for clinical trials looking for more effective treatments for cancer. The following are examples of situations where an MSH6 mutation may play a part in treatment decision-making.

2023年9月11日 · The MSH6 gene on chromosome 2 is part of the DNA mismatch repair system It encodes a component of the MutS family of proteins that are involved in DNA mismatch repair, and heterodimerizes with MSH2 to form the MutS alpha complex, which serves as a bidirectional molecular switch for the mismatch repair machinery

Here, we briefly describe the disorders that are related to MMR deficiency, as well as the structure and function of MSH6. Moreover, we review the functional assays that are used to examine VUS identified in MSH6 and discuss the results obtained in …