Jul 17, 2023 · This information explains how having a mutation in the PMS2 gene may affect you and your family.

In this review, we discuss the role of PMS2 in the MMR pathway, the evolving testing criteria used to identify variants in the PMS2 gene, the LS phenotype as well as the autosomal recessive condition called Constitutional Mismatch Repair Deficiency syndrome, and current methods used to elucidate the clinical impact of PMS2 mutations.

PMS2 is a protective mediator of cell survival in p53-deficient cells and modulates protective DNA damage response pathways independently of p53. [16] PMS2 and MLH1 can protect cells from cell death by counteracting p73-mediated apoptosis in a mismatch repair dependent manner. [16]

Sep 5, 2023 · The PMS2 gene (on chromosome 7) encodes an endonuclease that forms a heterodimer with MLH1 to form the MutL alpha complex which is activated upon recognition of DNA mismatches, insertions or deletions by MutS alpha and MutS beta heterodimers

Mar 24, 2025 · PMS2 inherited mutations (Lynch Syndrome) may affect your options for cancer prevention, detection and treatment. FORCE is here to guide you.

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.

PMS2 is located on the short arm of chromosome 7 and spans 15 exons. Multiple regions with over 90% homology have been identified, all on chromosome 7, and these pseudogene regions make interpretation of sequencing results of the PMS2 gene challenging.

Mar 24, 2025 · People with an inherited mutation in the PMS2 have Lynch syndrome. Learn about the cancer risks associated with mutations in this gene. FORCE is here to guide you.

PMS2 is a type of 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 a PMS2 pathogenic variant have only one working copy of the PMS2 gene, so their risk for cancer is higher than average.

Mar 30, 2025 · PMS2 (PMS1 Homolog 2, Mismatch Repair System Component) is a Protein Coding gene. Diseases associated with PMS2 include Lynch Syndrome 4 and Mismatch Repair Cancer Syndrome 4. Among its related pathways are DNA repair pathways, full network and Gene expression (Transcription).