卵巢癌追踪基因测试计划中的级联测试:GRACE研究的经验经验
Jamilyn M Zepp1, Heather S Feigelson2, Yolanda K Prado1
1Department of Translational and Applied Genomics, Kaiser Permanente Center for Health Research, Kaiser Permanente Northwest, Portland, Oregon, USA.
Journal of genetic counseling
|November 5, 2025
概括
对卵巢癌 (OC) 幸存者和亲属的遗传追溯测试发现了新的癌症风险变异. 这种方法在最初诊断几年后提出,在美国医疗保健机构中证明是可行的和有效的,用于遗传性癌症风险评估.
科学领域:
- 遗传学 是一个遗传学.
- 在瘤学瘤学.
- 公共卫生 公共卫生
背景情况:
- 大约20%的卵巢癌 (OC) 患者携带遗传的癌症风险基因变异.
- 在OC诊断时建议进行基因检测,但许多患者及其亲属错过了这个机会.
- 遗传性癌症风险信息和遗传检测可以在任何时候使个人受益.
研究的目的:
- 评估用于卵巢癌幸存者及其高危亲属 (ARR) 的追溯基因测试计划的可行性和有效性.
- 评估级测试在美国医疗保健机构的应用和结果.
- 在癌症风险基因中识别具有致病性或可能致病性 (P/LP) 变异的个体.
主要方法:
- 卵巢癌遗传风险评估 (GRACE) 研究为诊断时未经测试的卵巢癌幸存者和已故卵巢癌患者的亲属提供了基于小组的遗传测试.
- 积极的结果引发了对ARR的级联测试提供,支持通信和直接联系选项.
- 测试发生在OC诊断后的10-12年.
主要成果:
- 追溯测试发现了20个P/LP变体,使93个ARR符合连续测试的条件.
- 级联测试的采用率为38%,确定了11名患有OC风险变异的个人和3个偶然发现.
- 女性的连续测试完成率比男性 (30%) 高 (45%).
结论:
- 追溯基因测试计划在美国医疗保健系统中是可行的和有效的,用于识别遗传性癌症风险.
- 级联测试有助于识别有风险的亲属,甚至在最初的癌症诊断后的几年.
- 这一策略增强了癌症风险评估和卵巢癌影响家庭的潜在早期干预.
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