【佳学基因检测】癌症易感基因的发现：研究设计、分析方法和技术趋势

人体基因检测需要多少钱—比较

开会学习基因实验室人员知识更新《肿瘤靶向药物选择的基因突变标准》,了解到《J Natl Cancer Inst Monogr》在. 1999;(26):1-16.发表了一篇题目为《癌症易感基因的发现：研究设计、分析方法和技术趋势》肿瘤靶向药物治疗基因检测临床研究文章。该研究由D J Schaid, K Buetow, D E Weeks, E Wijsman, S W Guo, J Ott, C Dahl等完成。促进了肿瘤风险基因检测项目设计的全面性与准确性，进一步强调了基因信息检测与分析在除低癌症发病率中的重要性。

肿瘤靶向药物及精准治疗临床研究内容关键词：

癌症，易感基因,肿瘤风险,基因检测,设计,风险

肿瘤靶向治疗基因检测临床应用结果

确定癌症的遗传原因具有巨大的公共卫生益处，从预防到早期发现和治疗疾病。尽管已经成功鉴定了许多癌症易感基因，但设计和分析问题仍然挑战着当前基因发现的范式。一些例子是癌症表型的定义和测量、中间终点的使用、样本的选择（例如，受影响的相对对与大的扩展谱系）、分析基因解码基因检测的研究方法的选择[例如，几率的参数对数 (LOD) score 基因解码基因检测的研究方法与无模型基因解码基因检测的研究方法]，以及基因-环境相互作用对连锁分析的影响。此外，基于传统病例对照研究设计或基于家庭的对照的关联基因解码基因检测的研究方法是评估候选基因或筛选连锁不平衡的流行选择。最后，基因发现的研究设计和分析基因解码基因检测的研究方法在一定程度上取决于实验室内何种基因组技术是可行的。许多与基因发现相关的主要问题，以及将影响基因发现的基因组技术趋势，都从其优缺点的角度进行了讨论，指出了需要进一步开展工作的领域。

肿瘤发生与复发转移国际数据库描述：

Determining the genetic causes of cancers has immense public health benefits, ranging from prevention to earlier detection and treatment of disease. Although a number of cancer susceptibility genes have been successfully identified, design and analytic issues remain that challenge the current paradigm of gene discovery. Some examples are the definition and measurement of cancer phenotype, the use of intermediate end points, the choice of sample (e.g., affected relative pairs versus large extended pedigrees), the choice of analytic method [e.g., parametric logarithm of the odds (LOD) score method versus model-free methods], and the influence of gene-environment interaction on linkage analysis. Furthermore, association methods, based on either the traditional case-control study design or family-based controls, are popular choices to evaluate candidate genes or screen for linkage disequilibrium. Finally, the study design and analytic methods for gene discovery are determined to some extent by what genomic technology is feasible within the laboratory. Many of the main issues related to gene discovery, as well as trends in genomic technology that will impact on gene discovery, are discussed from the perspective of their strengths and weaknesses, pointing to areas in need of further work.