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在中国东部人口中,与BRCA1和BRCA2病原体变体相关的乳腺癌风险
Sanjian Yu1,2, Xia Qiu3, Zezhou Wang2,4
1Department of Breast Surgery, Fudan University Shanghai Cancer Center, Shanghai 200032, China.
这项研究发现,在中国东部的BRCA1/2变异携带者中,乳腺癌的透率较低. 这些发现表明,预防性乳房切除可能对这一群体来说并不重要.
科学领域:
- 遗传学 是一个遗传学.
- 在瘤学瘤学.
- 流行病学 流行病学
背景情况:
- 在中国东部缺乏对BRCA1/2致病或可能致病 (P/LP) 变种的基于人群的透性研究.
- 这项研究通过调查中国队列中的癌症风险来弥补这一差距.
研究的目的:
- 在携带BRCA1/2 P/LP变异的东华人中确定乳腺癌和其他恶性瘤的透率.
- 为此群体提供风险评估和临床管理的数据.
主要方法:
- 来自中国东部的2216名乳腺癌试验者的队列被分析了BRCA1/2突变.
- 使用亲属队列方法,利用家族病史数据计算癌症透率.
主要成果:
- 109名试验者 (4.90%) 携带BRCA1/2 P/LP变体.
- 到85岁时,乳腺癌的透率为BRCA1携带者的22.50%和BRCA2携带者的18.20%.
- 对于BRCA1携带者来说,到85岁的卵巢癌透率为26.00%.
结论:
- 在中国东部的BRCA1/2 P/LP携带者中,乳腺癌的透率低于以前在其他群体中报告的水平.
- 研究结果表明,所有患有这些变异的中国人可能不需要预防性乳房切除术.
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