What is the MSH6 gene?
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.
What does MSH6 stand for?
The name MSH6 stands for “MutS homolog 6.” The gene is located on chromosome 2. The MSH6 gene protein plays an important role in repairing DNA damage.
Where is the MSH6 gene located?
It is the homologue of the human “G/T binding protein,” (GTBP) also called p160 or hMSH6 (human MSH6)….
|Location (UCSC)||Chr 2: 47.7 – 47.81 Mb||Chr 17: 88.28 – 88.3 Mb|
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How common is MSH6 mutation?
The population prevalence of Lynch syndrome is 0.442%. We discover a translocation disrupting MLH1 and three mutations in MSH6 and PMS2 that increase endometrial, colorectal, brain and ovarian cancer risk.
What is MSH2 and MSH6?
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 MLH1 and PMS2?
MLH1 and PMS2 function as a stable heterodimer that, along with MSH2, MSH6 and EXO1, corrects small errors involving mispaired nucleotides which are introduced by DNA polymerase during DNA replication.
How common is MSH6?
Results: In 56 (7%) of 815 families, at least 1 MSH6 mutation, 23 definitively pathogenic mutations and 38 missense mutations or unclassified variants, and several polymorphisms in the MSH6 gene were detected.
What does MSH6 positive mean?
MSH6 mutation. Your testing shows that you have a pathogenic mutation or a variant that is likely pathogenic in the MSH6 gene. 2. Lynch syndrome. People with MSH6 mutations have Lynch syndrome, previously known as hereditary non-polyposis colorectal cancer (HNPCC).
Is MSH6 mutation hereditary?
Mutations in the MSH6 gene are inherited in an autosomal dominant fashion. This means that children, brothers, sisters, and parents of individuals with an MSH6 mutation have a 1 in 2 (50%) chance of having the mutation as well.
Is MSH6 a tumor suppressor?
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.
What is PMS2 gene?
The PMS2 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.