What is MSH2 MSH6?
This protein helps fix errors that are made when DNA is copied (DNA replication) in preparation for cell division. 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.
What is MSH2 positive?
Your testing shows that you have a pathogenic mutation (a disease-causing change in the gene, like a spelling mistake) or a variant that is likely pathogenic in the MSH2 gene. Both of these results should be considered positive.
How does an MSH2 gene mutation contribute to the development of colon cancer?
Several hundred mutations in the MSH2 gene that predispose carriers to colorectal, endometrial and other Lynch syndrome-associated cancers have been found. These mutations may cause the MSH2 gene to stop producing the normal protein, and to produce the wrong protein or no protein at all.
What kind of gene is MSH2?
MSH2 (MutS Homolog 2) is a Protein Coding gene. Diseases associated with MSH2 include Lynch Syndrome I and Mismatch Repair Cancer Syndrome 2. Among its related pathways are Mismatch repair and DNA damage_Role of Brca1 and Brca2 in DNA repair.
Is MSH6 a tumor suppressor?
MSH6 is also a tumor suppressor gene, although inactivation of MSH6 yields a slightly less severe phenotype than that caused by MSH2 or MLH1 mutations because in MSH6-deficient cells, one class of mismatches, insertions/deletions, apparently are repaired normally.
What chromosome is MSH6 on?
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.
Is MSH2 dominant or recessive?
Associated disorders The MSH2 gene is associated with autosomal dominant Lynch syndrome (also called hereditary nonpolyposis colorectal cancer syndrome, or HNPCC) (MedGen UID: 423615) and autosomal recessive constitutional mismatch repair deficiency syndrome (CMMR-D) (MedGen UID: 78553).
What does MSH2 code for?
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 Tumour 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).
Is MSH2 a tumor suppressor gene?
Which is part of the MSH2 gene fixes errors?
The MSH2 protein combines with one of two other proteins — either MSH6 or MSH3 — to form a protein complex. This complex finds locations on DNA where errors occurred during replication. Then another group of proteins — the MLH1-PMS2 complex — fixes the errors. MSH2 is part of a set of gene known as the mismatch repair (MMR) genes.
How does the MSH2 gene increase your risk for cancer?
Certain mutations in the MSH2 gene can cause another form of Lynch syndrome, known as Muir-Torre syndrome. People with this condition have an increased risk of developing colorectal cancer and rare tumors on the skin. ( 2) How Does MSH2 Increase Your Risk for Cancer?
Can a mutation in the MSH2 gene cause Lynch syndrome?
About 40 percent of Lynch syndrome cases related to a gene mutation are associated with defects in the MSH2 gene. Certain mutations in the MSH2 gene can cause another form of Lynch syndrome, known as Muir-Torre syndrome. People with this condition have an increased risk of developing colorectal cancer and rare tumors on the skin. (2)