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多基因评分与瘤分子亚型在乳头甲状腺癌中的关联
Jennifer R Wang1,2, Mark E Zafereo1, Wenyi Wang3,4
1Department of Head and Neck Surgery, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
The Journal of clinical endocrinology and metabolism
|July 15, 2023
概括
通过多基因分数 (PGS) 测量的生殖系遗传风险与乳头甲状腺癌 (PTC) 的特定分子亚型有关. 较高的PGS与BRAFV600E突变的PTC有关,这表明亚型特定的风险预测潜力.
科学领域:
- 遗传学 遗传学是一种遗传学.
- 在瘤学瘤学.
- 分子生物学分子生物学
背景情况:
- 全基因组关联研究 (GWAS) 已经确定了与乳头甲状腺癌 (PTC) 风险相关的生殖系变异.
- 乳头甲状腺癌 (PTC) 可以根据体力驱动突变进行亚型化,但生殖线风险变异与这些亚型之间的联系尚不清楚.
研究的目的:
- 研究由多基因分数 (PGS) 量化的生殖基因风险与乳头甲状腺癌 (PTC) 的分子亚型之间的关联.
- 为了确定PGS是否预测特定的PTC分子亚型,由瘤驱动突变定义.
主要方法:
- 利用了来自癌症基因组图谱 (TCGA) 甲状腺癌研究的数据.
- 计算了PTC风险的10个单核酸变异PGS.
- 根据驱动突变状态 (BRAFV600E,RAS,其他),mRNA表达,microRNA表达和DNA甲基化定义的分子亚型.
- 采用多种物流回归来分析PGS和PTC亚型之间的关联.
主要成果:
- 根据驱动器突变状态,发现了PGS和PTC分子亚型之间的显著关联.
- 与"其他"亚型相比,更高的生殖基因风险 (PGS) 与BRAFV600E突变PTC的几率增加相关.
- 探索性分析揭示了PGS和基因表达和甲基化模式定义的亚型之间的关联.
结论:
- 多基因评分 (PGS) 显示在乳头甲状腺癌 (PTC) 中具有分子亚型特异性关联.
- 这些发现对完善PTC风险预测模型有影响,包括生殖系遗传风险和分子亚型.
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