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 type of gene is MSH2?
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 MutSĪ± mismatch repair complex. It also dimerizes with MSH3 to form the MutSĪ² DNA repair complex.
What gene is mutated in HNPCC?
HNPCC is also known as Lynch syndrome, or Cancer Family Syndrome. The majority of HNPCC is caused by mutations in one of several mismatch-repair genes: MSH2, MSH6, and PMS1 on chromosome 2, MLH1 on chromosome 3, MSH3 on chromosome 5, and PMS2 on chromosome 7.
How common is MSH2?
Lynch syndrome (LS), or hereditary nonpolyposis colorectal cancer (HNPCC) syndrome, is genetically heterogeneous autosomal dominant disease, caused by mutations in one of at least four mismatch repair (MMR) genes, most frequently MLH1 or MSH2, which account for about 50% and 40% of cases respectively [1].
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).
How is HNPCC inherited?
How Is HNPCC Inherited? HNPCC is an autosomal dominant condition. This means that people with HNPCC have a 50% chance of passing the HNPCC gene mutation (change) to each of their children. The gene mutation can be passed on even if the parent has had surgery to remove his or her own colon.
What is biomarker MSH2?
MSH2 is a predictive biomarker for use of nivolumab, pembrolizumab, dostarlimab, fluorouracil, and ipilimumab in patients. Colorectal carcinoma, endometrial adenocarcinoma, endometrial carcinoma, and malignant solid tumor have the most therapies with MSH2 as a predictive biomarker.
What does PMS1 stand for?
PMS1 (PMS1 Homolog 1, Mismatch Repair System Component) is a Protein Coding gene. Diseases associated with PMS1 include Colorectal Cancer and Lynch Syndrome I.
How is HNPCC detected?
Tests such as colonoscopy and barium enema with flexible sigmoidoscopy are available to tell whether polyps or cancer are present in the colon. For patients at risk for HNPCC, colonoscopy is the preferred method of screening.