了解整个印度人口中生殖线瘤原生生物标志物变异的流行情况
Aastha Vatsyayan1, Rahul C Bhoyar, Mohamed Imran
1CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB) Mathura Road, Delhi 110 025, India. vinods@igib.in.
这项研究在印度人口中确定了52种癌症生物标志物变体,其中近7%携带可操作的治疗生物标志物. 这些基因组数据有助于个性化医疗,并为印度癌症患者确定潜在的新生物标志物.
科学领域:
- 基因组医学是基因组医学.
- 在瘤学瘤学.
- 人口遗传学 人口遗传学
背景情况:
- 个性化医学依赖基因组生物标志物进行早期检测和向治疗.
- 跨种群的遗传变异需要研究独特的生物标志物景观.
- 在全球基因组生物标志物研究中,印度人口的代表性不足.
研究的目的:
- 为了确定印度人口中突变特异性瘤原生生物标志物的流行率.
- 分析这些生物标志物在各种癌症疾病队列中的存在.
- 确定已识别的生物标志物的治疗和诊断应用的实用性.
主要方法:
- 来自1029名健康的印度人 (IndiGen) 的全基因组测序数据使用OncoKB知识库进行了注释.
- 生物标志物信息与全国数据库GUaRDIAN (队列) 和MUSTARD (疗法) 进行了交叉引用.
- 计算了生物标志物变异的流行率,包括治疗性,耐药性,诊断性和预后性类型.
主要成果:
- 在16个基因中发现了34种治疗可行的生物标志物变异,与23种药物/组合和23种癌症类型相关.
- 总共确定了52种生物标志物变体,包括172种类型 (治疗性,耐药性,诊断性,预后性).
- 发现大约7%的印度人口携带至少四个基于证据的生物标志物之一;23个基因中的42个变异显示了AD/AR遗传.
结论:
- 为印度人口建立了一个全面的癌症生物标志物格局,这对于临床决策至关重要.
- 这些发现支持在印度使用基因组生物标志物来改善患者护理和成本有效的癌症治疗.
- 这项研究强调了在代表性不足的群体中发现新型,人群特异性生物标志物的潜力.
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