乳腺癌患者的致病性生殖系变异:跨代对话,实践和患者的态度
Hikmat Abdel-Razeq1,2, Rawan Mustafa1, Sarah Abdel-Razeq2
1King Hussein Cancer Center, Department of Internal Medicine, Amman, Jordan.
Frontiers in genetics
|November 3, 2023
概括
对BRCA1和BRCA2等乳腺癌易感基因的基因测试有助于治疗和预防. 虽然许多患者接受了降低风险的手术,但家庭成员经常因为成本和恐惧而推迟或放弃预防措施.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 预防医学 预防医学
背景情况:
- 在患者群体中,对乳腺癌易感基因 (例如BRCA1,BRCA2,PALB2,CHEK2) 的识别越来越多.
- 识别这些变异的个体为风险家庭成员的癌症预防提供了机会.
研究的目的:
- 评估风险降低干预措施的采用情况和乳腺癌患者具有致病性/可能致病性 (P/LP) 生殖系变异的级联测试.
- 在这些患者的亲属中识别基因测试和预防措施的障碍.
主要方法:
- 成年乳腺癌患者的观测横截面研究,具有P/LP生殖系变异.
- 通过结构化问卷和临床图表审查收集的数据.
- 排除具有不确定的意义变异 (VUS) 或拒绝同意的患者.
主要成果:
- 纳入169名患者:其中42名 (24.9%) 是BRCA1,84名 (49.7%) 是BRCA2,43名 (25.4%) 是非BRCA变异. 平均年龄为45±9.9岁.
- 预防性乳房切除 (74.3%) 和双边沙卵巢切除 (BSO) (59.0%) 的高吸收率.
- 结果传达给94.7%的家庭成员,但只有44.5%采取行动;成本和恐惧是主要障碍.
结论:
- 大多数患有P/LP变体的患者接受了降低风险的手术.
- 对遗传结果向家庭成员的高传播率并没有转化为广泛的预防行动.
- 成本和对癌症诊断的恐惧是级联基因测试的重大障碍.
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