宪法不匹配修复缺陷:对具有独特皮肤发现的癌症倾向综合征的范围审查
Kristie Mar1, Kimia Ameri1, Joseph M Lam2,3
1Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada.
Pediatric dermatology
|February 6, 2025
概括
宪法不匹配修复缺陷 (CMMRD) 是一种罕见的遗传综合征,导致早期发作的癌症. 这份审查详细介绍了CMMRD的细节.
科学领域:
- 遗传学和瘤学 在
- 遗传性癌症综合征 遗传性癌症综合征
背景情况:
- 宪法不匹配修复缺陷 (CMMRD) 是一种罕见的,严重的遗传性癌症倾向综合征.
- 由不匹配修复基因 (MLH1,MSH2,MSH6,PMS2) 中的双性致病变体引起.
- 在儿童时期出现了血液,大脑和胃肠道癌症,以及神经纤维素瘤1型类似的皮肤特征.
研究的目的:
- 探索宪法不匹配修复缺陷 (CMMRD) 的临床特征.
- 为CMMRD表现和遗传关联提供全面的概述.
主要方法:
- 进行了医学文献的范围审查.
- 在医学数据库中进行了系统的搜索.
- 在分析中包括了127篇相关文章.
主要成果:
- 最常受到影响的基因是PMS2,其次是MSH6,MLH1和MSH2.
- 在所有变体中,血液和脑癌的早期发病;发病年龄在PMS2下降到MSH2.2.
- 在PMS2/MSH6变体的青春晚期出现的胃肠道瘤;在MLH1/MSH2.2中罕见.
- 与NF1患者相比,CMMRD患者表现出较大,较少的咖啡牛奶斑;PMS2/MSH6变体显示出不同的皮肤发现 (血管瘤,瘤,pilomatricomas).
结论:
- 诊断,基因检测和监测方面的进展改善了CMMRD的生存率和管理.
- 了解CMMRD多样化的临床谱对于早期检测和有效的患者护理至关重要.
相关概念视频
Mismatch Repair
4.8K
Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
4.8K
Skin Cancer
3.0K
Skin cancer is a type of cancer that occurs when there is an abnormal growth of skin cells, usually triggered by damage to the DNA within the skin cells. It is primarily caused by exposure to ultraviolet (UV) radiation from the sun or artificial sources like tanning beds. Skin cancer is the most common type of cancer worldwide, and its incidence continues to rise.
Basal Cell Carcinoma (BCC): BCC is the most common type of skin cancer, accounting for about 80% of cases. It typically develops in...
Basal Cell Carcinoma (BCC): BCC is the most common type of skin cancer, accounting for about 80% of cases. It typically develops in...
3.0K
Nucleotide Excision Repair
3.4K
DNA Distortion and Damage
Cells are regularly exposed to mutagens—factors in the environment that can damage DNA and generate mutations. UV radiation is one of the most common mutagens and is estimated to introduce a significant number of changes in DNA. These include bends or kinks in the structure, which can block DNA replication or transcription. If these errors are not fixed, the damage can cause mutations, which in turn can result in cancer or disease depending on which sequences are...
Cells are regularly exposed to mutagens—factors in the environment that can damage DNA and generate mutations. UV radiation is one of the most common mutagens and is estimated to introduce a significant number of changes in DNA. These include bends or kinks in the structure, which can block DNA replication or transcription. If these errors are not fixed, the damage can cause mutations, which in turn can result in cancer or disease depending on which sequences are...
3.4K
Cancers Originate from Somatic Mutations in a Single Cell
11.5K
Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
11.5K
Loss of Tumor Suppressor Gene Functions
4.7K
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
4.7K
Combination Therapies and Personalized Medicine
4.8K
Combining two or more treatment methods increases the life span of cancer patients while reducing damage to vital organs or tissue from the overuse of a single treatment. Combination therapy also targets different cancer-inducing pathways, thus reducing the chances of developing resistance to treatment.
The combination of the drug acetazolamide and sulforaphane is a good example of combination therapy to treat cancer. The cells in the interior of a large tumor often die due to the hypoxic and...
The combination of the drug acetazolamide and sulforaphane is a good example of combination therapy to treat cancer. The cells in the interior of a large tumor often die due to the hypoxic and...
4.8K


