细菌系CDH1变体和终身癌症风险
Carrie E Ryan1, Grace-Ann Fasaye2, Amber F Gallanis1
1Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland.
JAMA
|June 14, 2024
概括
患有CDH1基因变异的人一生患胃癌的风险低于此前认为的 (7% - 10%). 然而,女性携带者的乳腺癌风险仍然很高,为37%.
科学领域:
- 遗传学和基因组学
- 癌症学
- 癌症流行病学
背景情况:
- 遗传性扩散性胃癌和叶状乳腺癌通常与CDH1基因变异有关.
- 之前对CDH1变体携带者的风险估计很高,影响了临床管理.
- 准确的风险评估对于遗传咨询和预防策略至关重要.
研究的目的:
- 为携带CDH1致病或可能致病 (P/LP) 变体的个体提供胃癌和乳腺癌风险的最新估计.
- 根据北美队列重新评估终身累积风险.
- 为管理遗传性癌症综合征提供临床指南.
主要方法:
- 一个多中心,回顾性队列和模型研究涉及213个北美家庭.
- 分析了723名个体的数据,其中883人患有CDH1P/LP变体.
- 危险比率的估计和累积风险的计算,直到80岁.
主要成果:
- 携带者一生累积的胃癌风险为7% - 10%,低于之前的估计.
- 女性携带者一生累积患乳腺癌的风险为36. 8%,与之前的研究结果一致.
- 携带者患胃癌和乳腺癌的风险明显增加.
结论:
- 生殖系CDH1P/ LP变异与胃癌和乳腺癌的重大风险有关.
- 更新的风险估计表明胃癌的风险较低,但女性携带者患乳腺癌的风险仍然很高.
- 这些发现对于完善CDH1变异患者的管理策略和遗传咨询至关重要.
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