几种实体瘤患者中BRCA变化的潜在不可知作用:一个为所有,所有为一个?
Daniele Fanale1, Lidia Rita Corsini1, Erika Pedone1
1Section of Medical Oncology, Department of Surgical, Oncological and Oral Sciences, University of Palermo, 90127 Palermo, Italy.
生殖系BRCA1/2变异是遗传性乳腺癌和卵巢癌的关键生物标志物. 本综述探讨了Poly (ADP) -Ribose聚合酶抑制剂 (PARPi) 在BRCA1/2-突变固体瘤中的疗效,并检查了它们作为无关治疗的潜力.
科学领域:
- 在瘤学瘤学.
- 遗传学 遗传学 是一个
- 药理学 药理学是指药理学的学科.
背景情况:
- 生殖系BRCA1/2变异是遗传性乳腺癌和卵巢癌 (HBOC) 的主要敏感性标志物.
- 分子生物学的进步已经在各种恶性瘤中确定了BRCA1/2变异,扩大了它们的临床相关性.
- 现在,BRCA遗传测试在患者管理中提供了预测和预后价值.
研究的目的:
- 审查关于BRCA突变瘤与对多 (ADP) - рибо聚合酶抑制剂 (PARPi) 的反应之间的关联的临床研究.
- 评估有争议的证据,支持基于固体瘤中的BRCA1 / 2变异对PARPi的潜在不可知性指示.
主要方法:
- 对现有临床研究进行全面审查.
- 对将BRCA1/2突变与PARPi治疗结果联系起来的数据的分析.
- 专注于具有BRCA1/2变异的多种固体瘤类型.
主要成果:
- 在BRCA1/2缺陷瘤中,PARPi已经显示出显著的治疗影响.
- 有证据表明,PARPi的疗效超出了卵巢和乳腺癌.
- 关于PARPi仅基于BRCA1/2状态的普遍适用性,存在有争议的数据.
结论:
- 对于识别可能从PARPi治疗中受益的患者来说,BRCA1/2的改变至关重要.
- "突变性"的临床模型,由不可知药物指示驱动,正在改变癌症管理.
- 需要进一步的研究来澄清BRCA1/2测试在指导各种固体瘤中PARPi治疗中的作用.
更多相关视频
08:53Identifying the Effects of BRCA1 Mutations on Homologous Recombination using Cells that Express Endogenous Wild-type BRCA1
Published on: February 17, 2011
08:15gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair
Published on: October 6, 2014
相关概念视频
Targeted Cancer Therapies
There are several types of targeted therapies against...
Cancer-Critical Genes II: Tumor Suppressor Genes
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...
Cancer-Critical Genes I: Proto-oncogenes
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...
Cancer Prevention
Some...
The Retinoblastoma Gene
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,...
Loss of Tumor Suppressor Gene Functions
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...
