高风险突变载体的乳腺癌和非乳腺癌查实践
Alison C Coogan1, Lilia G Lunt1, Sarah S Keshwani1
1Department of Surgery, Rush University Medical Center, Chicago, Illinois.
The Journal of surgical research
|July 29, 2023
概括
基因检测可以识别患多种癌症的高风险女性. 虽然乳腺癌查的遵守率正在提高,但胰腺癌查率仍然很低,这表明需要在这个人群中制定更好的方案.
科学领域:
- 在瘤学瘤学.
- 遗传学 遗传学 是一个
- 预防医学 预防医学
背景情况:
- 对癌症倾向的基因检测越来越常见.
- 像BRCA1/2这样的基因中的致病变体 (突变) 增加了多种癌症的风险.
- 目前对这些高风险个体的查做法各不相同.
研究的目的:
- 评估基因突变携带者遵守推的癌症查指南.
- 确定影响查完成率的因素.
主要方法:
- 对662名患有癌症倾向基因 (BRCA1,BRCA2,ATM,CHEK2等) 致病变异的患者进行了回顾性图表审查. ) 的情况.
- 对国家综合癌症网络 (NCCN) 查指南的遵守情况的分析.
- 多变量分析以确定与查遵守相关的因素.
主要成果:
- 46%的符合条件的患者完成了推的乳房成像.
- 只有19%接受了胰腺癌查 (MRCP) 和15% (EUS).
- 年龄较大 (40-70岁) 与乳房成像的坚持度较高有关.
结论:
- 尽管突变携带者乳腺癌查率有所提高,但仍存在重大差距,特别是在胰腺癌查方面.
- 需要更清晰的协议来优化这种高风险人群的癌症监测.
- 年龄是乳腺成像坚持的一个因素,但需要进一步的研究来改善整体查遵守.
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