2023年7月17日 · What does a PMS2 mutation mean for my blood relatives? If you have a mutation, your biological parents, siblings, and children each have a 50% chance of having the same mutation. Your distant family members may also be at risk for having the same mutation. Males and females have an equal chance of passing down a mutation in their family.

其中，mlh1、msh2、msh6 及 pms2 是mmr 的主导蛋白。这 4 种主要的 mmr 蛋白中的≥1 种表达缺失判定为错配修复基因缺陷(dmmr)，全部阳性则判定为错配修复基因完整(pmmr)。

PMS2 is a gene that encodes for DNA repair proteins involved in mismatch repair. The PMS2 gene is located on chromosome 7p22 and it consists of 15 exons. Exon 11 of the PMS2 gene has a coding repeat of eight adenosines. [18]

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.

2025年3月30日 · 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).

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. The PMS2 protein joins with another protein called MLH1 (produced from the MLH1 gene) to form a two-protein complex called a ...

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.

2023年11月2日 · pms2基因是一种细胞错配修复基因，主要参与dna复制和修复过程，并有助于维持基因组的稳定性。 如果PMS2基因出现异常表达或突变，可能导致DNA复制错误或修复失败，从而导致细胞异常增殖和肿瘤形成。

2025年3月24日 · What is a PMS2 mutation? Inherited mutations in the PMS2 gene cause Lynch syndrome. Other names for Lynch syndrome include: Hereditary Nonpolyposis Colorectal Cancer (HNPCC) Muir-Torre syndrome, which refers to a subset of Lynch syndrome in which people have an increased risk of developing rare skin tumors.

2023年9月5日 · 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