神经母细胞瘤患者的生殖系病原体变异被BARD1丰富,并预测了更糟糕的生存率
Jung Kim1, Zalman Vaksman2,3, Laura E Egolf3,4
1Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD, USA.
Journal of the National Cancer Institute
|September 9, 2023
概括
癌症倾向基因中的罕见生殖系变异,特别是BARD1,与神经母细胞瘤有关. 这些遗传变异与受影响儿童的整体存活率较差有关.
科学领域:
- 遗传学 遗传学 是一个
- 在瘤学瘤学.
- 儿科癌症 儿科癌症
背景情况:
- 神经母细胞瘤是一种罕见的胚胎癌,起源于交感神经系统.
- 罕见的生殖系变异在神经母细胞瘤倾向中的作用,特别是在零星病例中,尚未完全理解.
研究的目的:
- 研究神经母细胞瘤患者罕见的致病性生殖系变异的频率和影响.
- 确定与神经母细胞瘤风险相关的特定基因及其临床影响.
主要方法:
- 786名神经母细胞瘤患者的生殖线DNA测序和与无癌症对照进行比较.
- 在更大的队列中分析瘤DNA的第二次命中和生殖系复制数变异.
- 对生殖系变异的关联分析与临床特征,瘤特征和患者存活率.
主要成果:
- 在13.9%的神经母细胞瘤患者中发现了致病或可能致病的生殖系变异,这比对照组的负担要高得多.
- BARD1显示了致病变异的强烈丰富和罕见的复制数变异破坏了基因.
- 生殖系致病变体独立地与神经母细胞瘤患者的整体存活率较差有关.
结论:
- BARD1被确定为一个重要的神经母细胞瘤倾向基因.
- 癌症倾向基因中生殖系病原体变异的存在预测了较差的生存结果.
- 对于对神经母细胞瘤的生殖系病原性变异进行前性研究,需要集中数据和基础设施.
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