What is the function of the MSH2 gene?

What is the function of the MSH2 gene?

The MSH2 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 protein does MSH2 code for?

DNA mismatch repair (MMR) protein
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.

Is MSH2 a tumor suppressor?

MSH2 is a tumor suppressor linked to hereditary nonpolyposis colorectal cancer (HNPCC), alterations in the p53 gene are the most frequent mutations found in a variety of different tumors (Hollstein et al., 1994; Modrich and Lahue, 1996).

What type of gene is MSH6?

MSH6 (MutS Homolog 6) is a Protein Coding gene. Diseases associated with MSH6 include Colorectal Cancer, Hereditary Nonpolyposis, Type 5 and Endometrial Cancer. Among its related pathways are DNA repair pathways, full network and DNA Damage.

What does MSH2 positive 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 MSH6 mutation?

If you have a mutation in the MSH6 gene, this means you have a condition called Lynch syndrome. Lynch syndrome increases your risk for certain types of cancers, including: Colorectal (colon and rectal) cancer. Uterine (endometrial) cancer.

How common is MSH6 mutation?

There is a 50/50 random chance to pass on a MSH6 mutation to your sons and daughters. The image to the right shows that both men and women can carry and pass on these mutations.

What MSH6 positive?

People with MSH6 mutations have Lynch syndrome, previously known as hereditary non-polyposis colorectal cancer (HNPCC). You have an increased chance to develop colorectal, endometrial/uterine, stomach, ovarian, small bowel, and other types of cancer.

Is Lynch syndrome serious?

Lynch syndrome is a condition that makes people more likely to get certain cancers. It’s passed down from parents to children through problem genes. People who have it have about a 40% to 80% chance of getting colorectal cancer by age 70. They’re also at risk for cancer of the uterus, ovaries, or stomach.

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.

What does loss of MSH6 mean?

MSH6 is a mismatch repair gene whose loss of function is associated with decreased responsiveness to temozolomide [79].

What happens if you test positive for Lynch syndrome?

If you test positive for Lynch syndrome, meaning that genetic mutations were found in your blood, this does not necessarily mean that you will get cancer. It means that your lifetime risk of developing colon cancer is between 60 to 80 percent.

What type of cancers does Lynch syndrome cause?

Lynch syndrome, also known as hereditary non-polyposis colorectal cancer (HNPCC), is the most common cause of hereditary colorectal (colon) cancer. Certain types of skin cancers.

How common is MSH6?

All these studies only evaluated the risks associated with MLH1 and MSH2 mutations. Thirty one percent of the families included in our study carried an MSH6 mutation. This frequency is higher than previously reported [4, 21–23].