【佳学基因检测】开发用于筛选 BRCA1/2 突变的评分系统

肿瘤基因检测公司排名国内热点

与同行交流时知悉《Methods Mol Biol》在 2010;653:237-47发表了一篇题目为《开发用于筛选 BRCA1/2 突变的评分系统》肿瘤靶向药物治疗基因检测临床研究文章。该研究由Gareth R Evans, Fiona Lalloo等完成。促进了肿瘤的精准治疗与个性化用药的发展，进一步强调了基因信息检测与分析的重要性。

肿瘤靶向药物及精准治疗临床研究内容关键词：

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肿瘤靶向治疗基因检测临床应用结果

BRCA1 和 BRCA2 致病性突变的基因检测选择是医疗保健的一个重要领域。虽然突变分析的测试成本正在下降，但北美的测试成本仍然超过 3,000 美元。大多数国家规定，在进行突变分析之前，应该有至少 10-20% 的可能性在一个家庭中检测到 BRCA1 或 BRCA2 突变。已经开发了许多基于计算机的模型来评估这种可能性，并且这些模型继续得到改进，以结合突变频率、乳腺癌发病率和肿瘤组织学。然而，这些在繁忙的诊所中可能很耗时且难以使用。曼彻斯特评分系统于 2003 年开发，我们继续验证其在西方人群中的使用。评分系统在 10% 和 20% 的测试阈值下都可以很好地区分，并且可以与更复杂的基于计算机的模型进行很好的比较。然而，它不应该以目前的形式用于创始人人群或乳腺癌发病率低的人群，尽管可以使用较低的点阈值来确定适当的截止值。本章将介绍曼彻斯特分数的发展及其与其他模型的比较。

肿瘤发生与复发转移国际数据库描述：

Selection for genetic testing for pathogenic mutations in BRCA1 and BRCA2 is an important area of healthcare. While testing costs for mutational analysis are falling, costs of tests in North America remain in excess of $3,000. Most countries state that there should be at least a 10-20% likelihood of detecting a mutation in BRCA1 or BRCA2 within a family before mutational analysis is performed. A number of computer-based models have been developed to assess this likelihood, and these continue to be improved to incorporate mutation frequencies, breast cancer incidence and tumour histology. However, these can be time-consuming and difficult to use in a busy clinic. The Manchester scoring system was developed in 2003, and we have continued to validate its use in Western populations. The scoring system discriminates well at both the 10 and 20% threshold for testing and compares very well with more complex computer-based models. However, it should not be used in its current form in founder populations or populations with low incidence of breast cancer, although a lower points threshold could be used to determine an appropriate cut off. The development of the Manchester score and its comparison with other models will be described in this chapter.