在南亚和西亚的BRCA1/2病原型变体的谱系 - - 一个系统的审查
Samra Khan1, Ikram A Burney2, Mahrukh Nasir1
1Jamil-ur-Rahman Center for Genome Research, Dr. Panjwani Center for Molecular Medicine and Drug Research, International Center for Chemical and Biological Sciences, University of Karachi, Karachi 75270, Pakistan.
Mutation research. Reviews in mutation research
|June 21, 2025
概括
生殖系BRCA1/2致病变体 (PVs) 在遗传性乳腺癌 (BC) 中至关重要. 这项研究揭示了南亚区域合作协会 (SAARC) 和海湾合作委员会 (GCC) 国家的独特的光伏景观,强调了对特定地区进行基因测试的必要性.
科学领域:
- 遗传学 是一个遗传学.
- 在瘤学瘤学.
- 人口健康 人口健康
背景情况:
- 生殖系BRCA1/2致病变体 (PVs) 是遗传性乳腺癌 (BC) 的重要贡献者.
- 关于南亚和中东地区BRCA1/2 PV流行情况的数据有限.
- 了解区域突变格局对于有针对性的查和治疗至关重要.
研究的目的:
- 调查南亚区域合作协会 (SAARC) 和海湾合作委员会 (GCC) 国家的生殖系BRCA1/2 PVs的流行率和频谱.
- 在这些地区内确定共同和独家的光伏.
- 突出BRCA基因对乳腺癌的区域遗传倾向.
主要方法:
- 在SAARC和海湾合作委员会国家报告BRCA1/2变异的46项研究的系统文献搜索.
- 使用ClinVar和BRCA Exchange数据库重新解释已识别的变异,以确定病原性.
- 对变种数据的分析,重点关注患病率,复发率和与早期发病,三阴性和家族性乳腺癌的关联.
主要成果:
- 在来自SAARC和海湾合作委员会国家的772个指数病例中,共确定了259个BRCA1/2 PVs.
- BRCA1 c.68_69del是最经常出现的PV (n=111).
- 观察到PV的区域差异很大,SAARC和GCC队伍之间只有6%的重叠. 在早期发病 (83%),三阴性 (95%) 和家族性 (80%) BC中,BRCA1 PVs是常见的. 在不同地区,热点异构有所不同 (SAARC:BRCA1异构11,BRCA2异构15,GCC:BRCA1异构18,BRCA2异构13).
结论:
- 在SAARC和海湾合作委员会国家,BRCA基因突变具有明显的区域遗传倾向.
- 在这些地区,针对BRCA1/2变异的特定人群基因测试对于有效的乳腺癌管理至关重要.
- 这项研究提供了BRCA1/2 PVs的全面数据集,为未来的研究和临床应用提供了宝贵的资源.
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