在患有黑色素瘤的个体中,生殖细胞癌的易感性
Pauline Funchain1, Ying Ni2, Brandie Heald3
1Taussig Cancer Institute, Cleveland Clinic Foundation, Cleveland, Ohio.
Journal of the American Academy of Dermatology
|March 21, 2024
概括
遗传性黑色素瘤比以前认为的更常见,在10.6%至15.8%的患者中发现了生殖线倾向. 这项研究确定了癌症倾向基因中可操作的遗传变异,影响黑色素瘤风险.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 皮肤病学 皮肤病学
背景情况:
- 黑色素瘤具有很高的遗传性,但之前的估计表明生殖线癌症的倾向性很低 (2%-2.5%).
- 最近的双胞胎研究表明,黑色素瘤的发展有着重要的遗传成分.
研究的目的:
- 为了确定遗传性黑色素瘤的发病率.
- 描述与黑色素瘤风险相关的癌症倾向基因的谱.
主要方法:
- 在400个患有黑色素瘤的个体中,对80多个癌症倾向基因进行生殖基因检测.
- 对生殖线数据的比较分析与三个额外的瘤和皮肤学数据集.
主要成果:
- 在15.3%的黑色素瘤患者中发现了生殖系致病性/可能致病性 (P/LP) 变体.
- 显著比例的变异 (67%) 在以前与黑色素瘤无关的基因中.
- 同源的修复缺陷基因占已识别的P/LP变异的近一半.
结论:
- 对黑色素瘤的生殖线倾向是常见的,在10.6%至15.8%的个体中发现了可行的发现.
- 研究结果强调了在黑色素瘤患者中进行基因检测的重要性,即使是那些没有强烈家族病史的人.
相关概念视频
Skin Cancer
4.1K
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...
4.1K
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
Cancers Originate from Somatic Mutations in a Single Cell
11.9K
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...
11.9K
Cancer Prevention
6.2K
Several factors can increase the risk of cancer in an individual. About 50% of cancer cases can be prevented by adopting a healthy lifestyle, regular exercise, eating healthy, and following a modest cancer prevention diet. Epidemiological studies have consistently shown that populations with vegetable and fruit-rich diets have reduced the incidence of cancer. On the other hand, populations who have a diet rich in animal fat, red meat, junk food, or high calories are predisposed to cancer.
Some...
Some...
6.2K
Cancer-Critical Genes II: Tumor Suppressor Genes
7.4K
Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
7.4K
The Retinoblastoma Gene
4.1K
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.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
4.1K


