巴基斯坦乳腺癌家族的预期效应,无论是否有BRCA1/2病原体变异
Noor Muhammad1, Humaira Naeemi1, Shumaila Arif1
1Basic Sciences Research, Shaukat Khanum Memorial Cancer Hospital and Research Centre (SKMCH&RC), Lahore, Pakistan.
Cancer epidemiology
|February 27, 2025
概括
遗传预期导致巴基斯坦女儿比母亲更早患乳腺癌,无论BRCA1/2基因突变如何. 这表明需要更新高风险家庭的查指南.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 流行病学 流行病学
背景情况:
- 在亚洲人群中,遗传预期,即乳腺癌 (BC) 在连续几代人的早期发病,报告不足.
- 这项研究调查了巴基斯坦家族BC患者的遗传预期.
研究的目的:
- 调查巴基斯坦家族乳腺癌 (BC) 患者遗传预测现象.
- 为了比较不同遗传状态的母亲和女儿之间的BC诊断年龄 (BRCA1/2致病变体携带者和非携带者).
主要方法:
- 分析了171对母女BC对,包括BRCA1 (n=52),BRCA2 (n=11) 病原变体 (PV) 携带者和非携带者 (n=108).
- 纳入了741名一级女性亲属,以评估BC发生率.
- 使用配对t测试对BC诊断时的年龄进行比较,并使用几率比率 (ORs) 评估代际BC发病率.
主要成果:
- 女儿比母亲早得多地被诊断出BC,代际年龄差异为14.3年 (BRCA1PV携带者),11.5年 (BRCA2PV携带者) 和12.6年 (非携带者).
- 这些年龄差异具有统计学意义 (P < 0.0001) 并独立于出生队列效应或确定偏差.
- 在母亲和女儿的世代之间没有观察到BC发病率 (OR1.20,P=0.135) 或存活时间的统计学上显著差异.
结论:
- 这项研究提供了巴基斯坦家族乳腺癌患者显著预期效应的第一个证据,女儿比母亲更早被诊断出乳腺癌.
- 不管BRCA1/2病原性变异的携带者身份如何,都会观察到较早的发病.
- 研究结果强调,需要对巴基斯坦高风险人口的乳腺癌查指南进行改进,以考虑遗传预测.
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