南非环境中的乳腺癌遗传服务:试验测试,级联和临床管理
T S Osler1,2, M Schoeman3, J Edge4
1Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Cancer medicine
|March 5, 2025
概括
在南非,遗传性乳腺癌的基因测试得到了患者的好评,但亲属对连续测试的接受率很低. 超过一半的符合条件的个人采取了降低风险的措施,尽管采用情况各不相同.
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:
- 来自低收入和中等收入国家 (LMICs) 的遗传性乳腺癌管理数据很少.
- 在南非区域乳腺癌服务中评估基因测试和降低风险的策略,提供了关键的见解.
研究的目的:
- 评估遗传性乳腺癌的探针和级联基因测试的有效性.
- 评估南非环境中遗传性乳腺癌患者采取降低风险措施的情况.
主要方法:
- 分析了534名女性乳腺癌试验者和115名接受遗传咨询的亲属的记录.
- 数据收集包括人口统计,临床细节,家族史和遗传测试结果.
主要成果:
- 试验和遗传测试的采用率很高 (86.9%),其中19.6%的测试结果呈阳性.
- 亲属的级联测试是有限的 (9.2%),但与较强的家族病史和一级亲属关系有关.
- 符合条件的女性中有52.6%接受了降低风险的乳房切除术;乳房镜监测和卵管切除术的采用率较低.
结论:
- 试验人员接受基因测试,但家庭成员的参与 (级联测试) 是不理想的.
- 这项研究发现,每11名被测试的试验者中,就有一个家庭成员患有病原性变异.
- 级联测试和降低风险的选择的可变采用突出显示了在LMICs计划改进的领域.
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