乳腺癌易感性 基因序列变异和逆侧乳腺癌的发展
Anne S Reiner1, Gordon P Watt1, Kathleen E Malone2
1Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, New York.
乳腺癌基因中的有害生殖系变异与特定的雌激素受体 (ER) - 阳性和ER - 阴性逆侧乳腺癌 (CBC) 的发展有关. 第一次原发性乳腺癌的ER状态并没有改变这些关联.
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:
- 雌激素受体 (ER) 特定乳腺癌发展的异质性受到中高透易感基因的生殖系变异的影响.
- 这些生殖系变异与ER特异性逆侧乳腺癌 (CBC) 之间的关联尚未得到充分理解.
研究的目的:
- 研究乳腺癌易感基因中的有害生殖系变异与ER特异性CBC的发展之间的关联.
- 确定第一个原发性乳腺癌的ER状态是否会改变这些关联.
主要方法:
- 一项基于人口的病例控制研究 (WECARE研究) 包括1290名被诊断为乳腺癌的妇女.
- 参与者在几个因素上进行了匹配,包括年龄和种族,并在辐射治疗上进行了对比.
- 在ATM,BRCA1,BRCA2和CHEK21100delC中分析了有害的生殖系变异.
主要成果:
- 有害的ATM变异与ER-阳性CBC的4倍更高的比率有关 (RR,4.84).
- 有害的BRCA2和CHEK21100delC变异显示ER阳性CBC的发病率高出5至6倍 (RR分别为5.88和6.06).
- 有害的BRCA1变异与ER阴性CBC的26倍高率有关 (RR, 26.16).
- 第一次原发性乳腺癌的ER状态并没有改变这些关联.
结论:
- 乳腺癌易感基因中的有害生殖系变异与ER特异性CBC发育有差异性相关.
- 生殖系遗传特征可能有助于预测ER特异性CBC亚型的结果.
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