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]

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.

2024年12月25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).

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)。

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。

People with an inherited PMS2 mutation have an increased lifetime risk for several cancers. Additionally, the cancers tend to occur at a younger age than people in the general population. The following are the most common cancers: lifetime risk of 8.7 - 20 percent compared to 4 percent in the general population.

2024年9月6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.

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 ...

如果双⽅都有 pms2 基因突变，则您的孩⼦有可能会在出⽣时患有⼀种称为先天性错配修 复缺陷综合征 (CMMR-D) 的严重疾病。 CMMR-D 综合征会导致⼉童罹患癌症的⻛险较

PMS2是一种错配修复基因，其存在于细胞核中。 正常情况下，结肠黏膜细胞核呈阳性；然而，一旦发生突变，该基因的表达便会丢失。 PMS2的联合检测与MLH1、MSH2和MSH6可用于筛查Lynch综合征（遗传性非息肉性结肠癌）。 根据阳性率的不同，不同类型的癌症可能与PMS2有关。 几乎全部阳性（≥95%的病例阳性）可能与皮脂腺腺癌、皮脂腺腺瘤、壶腹腺癌、肠型、透明细胞肾细胞癌、皮脂腺上皮瘤、子宫内膜透明细胞癌、壶腹腺癌以及胰胆管型、壶腹癌相关联。 …