Department of Molecular and Regenerative Medicine, Hematology, Oncology and Transfusion Medicine Center, Vilnius University Hospital Santariskiu Clinics, Santariškių st. 2, Vilnius, 08661 Lithuania.
EPMA J. 2010 Sep;1(3):397-412. doi: 10.1007/s13167-010-0037-y. Epub 2010 Jun 27.
Detection of mutations in hereditary breast and ovarian cancer-related BRCA1 and BRCA2 genes is an effective method of cancer prevention and early detection. Different ethnic and geographical regions have different BRCA1 and BRCA2 mutation spectrum and prevalence. Along with the emerging targeted therapy, demand and uptake for rapid BRCA1/2 mutations testing will increase in a near future. However, current patients selection and genetic testing strategies in most countries impose significant lag in this practice. The knowledge of the genetic structure of particular populations is important for the developing of effective screening protocol and may provide more efficient approach for the individualization of genetic testing. Elucidating of founder effect in BRCA1/2 genes can have an impact on the management of hereditary cancer families on a national and international healthcare system level, making genetic testing more affordable and cost-effective. The purpose of this review is to summarize current evidence about the BRCA1/2 founder mutations diversity in European populations.
检测遗传性乳腺癌和卵巢癌相关的 BRCA1 和 BRCA2 基因突变是癌症预防和早期检测的有效方法。不同的种族和地理区域具有不同的 BRCA1 和 BRCA2 突变谱和流行率。随着新兴的靶向治疗，快速检测 BRCA1/2 基因突变的需求和接受度将在不久的将来增加。然而，目前大多数国家的患者选择和基因检测策略在这方面存在显著滞后。了解特定人群的遗传结构对于制定有效的筛查方案很重要，并且可能为基因检测的个体化提供更有效的方法。阐明 BRCA1/2 基因中的起源效应可以对国家和国际医疗保健系统层面上遗传性癌症家族的管理产生影响，使基因检测更加经济实惠。本文综述的目的是总结欧洲人群中 BRCA1/2 基因突变的多样性的现有证据。
