产前BRCA1表皮突变对三阴性乳腺癌的发展有显著的贡献
Oleksii Nikolaienko1,2, Hans P Eikesdal1,2, Elisabet Ognedal1,2
1K.G. Jebsen Center for Genome-Directed Cancer Therapy, Department of Clinical Science, University of Bergen, Bergen, Norway.
Genome medicine
|December 5, 2023
概括
正常细胞BRCA1表皮化可能导致约20%的三阴性乳腺癌 (TNBC) 和低雌激素受体 (ER) 乳腺癌. 这些宪法马赛克BRCA1甲基化可能起源于子宫内,与性别相关的机制,而不是孟德尔遗传.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 表观遗传学 在表观遗传学中,表观遗传学是指表观遗传学.
背景情况:
- 正常细胞BRCA1表皮转移与增加三阴性乳腺癌 (TNBC) 风险有关.
- 由BRCA1表皮突变引起的TNBC的比例及其遗传模式仍然不清楚.
研究的目的:
- 为了确定TNBC和其他乳腺癌中BRCA1表皮突变的频率.
- 研究BRCA1表皮突变的起源,遗传和时间.
主要方法:
- 从408名乳腺癌患者的瘤和白细胞 (WBC) 中分析了BRCA1甲基化.
- 从新生儿和父母的血液样本中评估了带血中的BRCA1甲基化.
- 使用敏感测序试验进行基因因解析甲基化评估.
主要成果:
- 在19.4%的TNBC和低ER瘤中发现一致的BRCA1表皮.
- 在9.0%的新生女婴和4.5%的新生男婴中检测到BRCA1表皮.
- 母亲的BRCA1甲基化率比父亲 (3.0%) 高 (8.0%).
结论:
- 产前BRCA1表皮突变可能是TNBC和低ER乳腺癌的约20%的基础.
- 宪法马赛克BRCA1甲基化可能源于子宫内,受性别影响的过程.
- 遗传似乎独立于传统的孟德尔模式.
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