对于早期乳腺癌的基因检测进行单一中心审计
C A Pillay1, W Ngwisanyi2, C A Benn3,4
1Human Genetics, Department of Biochemistry, Genetics and Microbiology, University of Pretoria, South Africa.
概括
对BRCA1/2突变的基因测试在被诊断为乳腺癌的年轻女性中严重不足. 本次审计突出了早期乳腺癌患者获得基本遗传服务的重大差距.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 公共卫生 公共卫生
背景情况:
- 专注于在南非约翰内斯堡的一家私人专科医院诊断出乳腺癌的年轻女性 (≤35岁).
- 在这个人口群体中调查BRCA1和BRCA2致病变体的基因测试的采用情况.
- 强调乳腺护理卓越中心 (BCCE) 作为该研究的临床环境.
研究的目的:
- 对被诊断患有乳腺癌的年轻女性接受BRCA1/2突变遗传检测的数量进行审计.
- 发现早期乳腺癌患者在基因检测获取方面的差异.
主要方法:
- 追溯审查的患者档案诊断乳腺癌在年龄≤35岁.
- 从多个设施提取医疗信息并与遗传服务记录进行比较.
- 编制和分析遗传测试数据.
主要成果:
- 在10年的时间里,196名患者被诊断出患有乳腺癌,年龄≤35岁.
- 其中只有5名患者接受了BRCA1/2突变的基因检测.
- 这表明在这个高风险人群中,基因检测的普及率非常低.
结论:
- 强调需要增加BRCA1/2突变遗传检测服务的可用性和可访问性.
- 建议国家或医疗保险资金对于改善获得遗传服务的机会至关重要.
- 建议增强基因测试可以提高对BRCA诊断,降低风险和乳腺癌年轻女性生活质量的理解.
相关概念视频
Cancers Originate from Somatic Mutations in a Single Cell
12.6K
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...
12.6K
Cancer-Critical Genes II: Tumor Suppressor Genes
8.3K
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...
8.3K


