How does MSH2 mutation cause cancer?
If You Carry an MSH2 Gene Mutation, What Cancers Are You at Risk For? Having an error, or mutation, in one copy of the MSH2 gene, causes Lynch syndrome, which raises a person’s risk for developing: Colorectal cancer.
What is MSH2 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 is the most common type of germ line mutation?
The most common mutations included BRCA1, BRCA2, CHEK2 and ATM. Conversely, the most common young-adult cancer types included sarcoma and brain, testicular and thyroid cancers, of which 13% harbored germline mutations, including TP53, SDHA and SDHB.
What is an example of a germ line mutation?
Germline mutations are the cause of some diseases, such as cystic fibrosis and cancer (eg, breast and ovarian cancer, melanoma). Cystic fibrosis is a hereditary genetic disorder that results in a thick, sticky buildup of mucus in the lungs, pancreas and other organs.
Is MSH2 dominant or recessive?
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.
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 Integrated Breast Cancer Pathway and Mismatch Repair.
What percentage of cancers are germline mutations?
Because the mutation affects reproductive cells, it can pass from generation to generation. Cancer caused by germline mutations is called inherited cancer. It accounts for about 5% to 20% of all cancers.
What causes a germ line mutation?
A germline mutation often arises due to endogenous factors, like errors in cellular replication and oxidative damage. This damage is rarely repaired imperfectly, but due to the high rate of germ cell division, can occur frequently. Endogenous mutations are more prominent in sperm than in ova.
Why is it called a germline?
Germ Line A germ line is the sex cells (eggs and sperm) that are used by sexually reproducing organisms to pass on genes from generation to generation. Egg and sperm cells are called germ cells, in contrast to the other cells of the body that are called somatic cells.
Is MSH2 a tumor suppressor gene?
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).