在美国5个种族/民族群体中,致病性BRCA1突变载体的流行率
Esther M John1, Alexander Miron, Gail Gong
1Northern California Cancer Center, Fremont, CA 94538-2334, USA. ejohn@nccc.org
JAMA
|December 27, 2007
概括
BRCA1突变载体的患病率在西班牙裔患者中最高,在亚裔美国人乳腺癌患者中最低. 这项研究强调了需要在不同人群中进行更广泛的遗传查.
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:
- 有限的数据存在于致病性BRCA1突变携带者在种族/少数民族人口中的流行率.
- 了解遗传倾向对于有针对性的癌症预防和治疗策略至关重要.
研究的目的:
- 确定和比较拉美裔,非裔美国人和亚裔美国女性乳腺癌患者的BRCA1携带者患病率.
- 为了将这些患病率与非西班牙裔白人患者进行比较,包括那些有或没有阿什肯纳兹犹太血统的白人患者.
主要方法:
- 分析了65岁以下女性乳腺癌患者的基于人口的多民族系列.
- 种族/种族和祖先数据是自我报告的.
- 使用霍维茨-普森估计方程计算了加权的流行率估计和置信区间.
主要成果:
- 在西班牙裔患者中,BRCA1的患病率为3.5%,在非裔美国人中为1.3%,在亚裔美国人中为0.5%.
- 阿什基纳兹犹太人的患病率为8.3%,其他非西班牙裔白人患者的患病率为2.2%.
- 值得注意的是,在年轻的非裔美国患者 (<35岁) 中,患病率很高,为16.7%.
结论:
- BRCA1突变携带者患病率在种族/族群之间有显著差异.
- 西班牙裔患者在少数群体中患病率最高,而亚裔美国人患病率最低.
- 在西班牙裔人口中患病率较高,这可能表明来自未被认可的犹太血统的贡献.
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