在乳腺癌中,BRCA2逆转突变赋予了对olaparib的耐药性
Shinya Yamamoto1, Kei Kawashima1, Yoshie Fujiwara1
1Department of Breast and Thyroid Surgery Yokohama City University Medical Center Yokohama Japan.
Clinical case reports
|June 26, 2023
概括
一种罕见的BRCA2逆转突变,p.Gln3047Tyr,被确定为乳腺癌患者对olaparib耐药性的机制. 这一发现对于了解BRCA突变癌症的治疗耐药性至关重要.
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:
- 奥拉巴里布是一种PARP抑制剂,用于治疗BRCA突变乳腺癌.
- 对olaparib的耐药性可以通过各种机制发展,包括BRCA基因的二次突变.
研究的目的:
- 确定乳腺癌和BRCA2突变患者对olaparib获得耐药性的机制.
主要方法:
- 使用液体活检进行癌症基因组分析.
- 在olaparib治疗前后对BRCA2基因突变的分析.
主要成果:
- 最初存在一个生殖系BRCA2:p.Gln3047Ter突变.
- 在olaparib治疗进展后,检测到二次逆转突变,BRCA2:p.Gln3047Tyr,具有较低的等位基因频率 (0.37%).
- 原始突变 (p.Gln3047Ter) 在高等位基因频率 (48.9%) 中仍然可检测.
结论:
- 在乳腺癌中,BRCA2的逆转突变可以成为对olaparib耐药性的机制.
- 通过液体活检检测回归突变可以为BRCA突变癌症患者的治疗策略提供信息.
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