在固体瘤中体质BRCA突变的预测价值和治疗意义
Gyongyver Szentmartoni1, Dorottya Mühl1, Renata Csanda1
1Division of Oncology, Department of Internal Medicine and Oncology, Semmelweis University, 1083 Budapest, Hungary.
实体BRCA突变,虽然比生殖系突变更不了解,但可以预测对PARP抑制剂 (PARPi) 的反应. 本综述探讨了它们在识别可能受益于PARPi治疗的患者中的作用.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 药理学 药理学是指药理学的学科.
背景情况:
- 在10%的乳腺癌和卵巢癌中发现了生殖系BRCA1/BRCA2突变.
- 身体变化导致大多数其他癌症.
- PARP 抑制剂 (PARPi) 已被批准用于具有生殖系 BRCA 突变的癌症.
研究的目的:
- 审查体质BRCA突变在PARPi反应中的预测作用.
- 帮助临床医生识别可能从PARPi.Pi中受益的患者.
主要方法:
- 对体性BRCA突变和PARPi研究的文献综述.
- 对病例报告和随机试验的分析.
主要成果:
- 生殖线BRCA变异和HRD状态预测了一些固体瘤中的PARPi反应.
- 有证据表明,体质BRCA突变也可能预测PARPi的有效性.
- 最近的研究表明,PARPi在患有体质BRCA突变的患者中有效.
结论:
- 实体BRCA突变值得考虑作为PARPi治疗的预测生物标志物.
- 需要进一步的研究来澄清体质BRCA突变在治疗决策中的作用.
更多相关视频
09:24Silencing of BRCA2 to Identify Novel BRCA2-regulated Biological Functions in Cultured Human Cells
Published on: August 12, 2015
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
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...
Targeted Cancer Therapies
There are several types of targeted therapies against...
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...
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,...
Sensitivity, Specificity, and Predicted Value
Sensitivity is the...
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...
